IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000000196
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Benign
Aug 2015 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
Variation ID: 41814 Accession: VCV000041814.77
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43092507 (GRCh38) [ NCBI UCSC ] 17: 41244524 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 12, 2013 Dec 22, 2024 Aug 10, 2015 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3024G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met1008Ile missense NM_001407571.1:c.2811G>A NP_001394500.1:p.Met937Ile missense NM_001407581.1:c.3024G>A NP_001394510.1:p.Met1008Ile missense NM_001407582.1:c.3024G>A NP_001394511.1:p.Met1008Ile missense NM_001407583.1:c.3024G>A NP_001394512.1:p.Met1008Ile missense NM_001407585.1:c.3024G>A NP_001394514.1:p.Met1008Ile missense NM_001407587.1:c.3021G>A NP_001394516.1:p.Met1007Ile missense NM_001407590.1:c.3021G>A NP_001394519.1:p.Met1007Ile missense NM_001407591.1:c.3021G>A NP_001394520.1:p.Met1007Ile missense NM_001407593.1:c.3024G>A NP_001394522.1:p.Met1008Ile missense NM_001407594.1:c.3024G>A NP_001394523.1:p.Met1008Ile missense NM_001407596.1:c.3024G>A NP_001394525.1:p.Met1008Ile missense NM_001407597.1:c.3024G>A NP_001394526.1:p.Met1008Ile missense NM_001407598.1:c.3024G>A NP_001394527.1:p.Met1008Ile missense NM_001407602.1:c.3024G>A NP_001394531.1:p.Met1008Ile missense NM_001407603.1:c.3024G>A NP_001394532.1:p.Met1008Ile missense NM_001407605.1:c.3024G>A NP_001394534.1:p.Met1008Ile missense NM_001407610.1:c.3021G>A NP_001394539.1:p.Met1007Ile missense NM_001407611.1:c.3021G>A NP_001394540.1:p.Met1007Ile missense NM_001407612.1:c.3021G>A NP_001394541.1:p.Met1007Ile missense NM_001407613.1:c.3021G>A NP_001394542.1:p.Met1007Ile missense NM_001407614.1:c.3021G>A NP_001394543.1:p.Met1007Ile missense NM_001407615.1:c.3021G>A NP_001394544.1:p.Met1007Ile missense NM_001407616.1:c.3024G>A NP_001394545.1:p.Met1008Ile missense NM_001407617.1:c.3024G>A NP_001394546.1:p.Met1008Ile missense NM_001407618.1:c.3024G>A NP_001394547.1:p.Met1008Ile missense NM_001407619.1:c.3024G>A NP_001394548.1:p.Met1008Ile missense NM_001407620.1:c.3024G>A NP_001394549.1:p.Met1008Ile missense NM_001407621.1:c.3024G>A NP_001394550.1:p.Met1008Ile missense NM_001407622.1:c.3024G>A NP_001394551.1:p.Met1008Ile missense NM_001407623.1:c.3024G>A NP_001394552.1:p.Met1008Ile missense NM_001407624.1:c.3024G>A NP_001394553.1:p.Met1008Ile missense NM_001407625.1:c.3024G>A NP_001394554.1:p.Met1008Ile missense NM_001407626.1:c.3024G>A NP_001394555.1:p.Met1008Ile missense NM_001407627.1:c.3021G>A NP_001394556.1:p.Met1007Ile missense NM_001407628.1:c.3021G>A NP_001394557.1:p.Met1007Ile missense NM_001407629.1:c.3021G>A NP_001394558.1:p.Met1007Ile missense NM_001407630.1:c.3021G>A NP_001394559.1:p.Met1007Ile missense NM_001407631.1:c.3021G>A NP_001394560.1:p.Met1007Ile missense NM_001407632.1:c.3021G>A NP_001394561.1:p.Met1007Ile missense NM_001407633.1:c.3021G>A NP_001394562.1:p.Met1007Ile missense NM_001407634.1:c.3021G>A NP_001394563.1:p.Met1007Ile missense NM_001407635.1:c.3021G>A NP_001394564.1:p.Met1007Ile missense NM_001407636.1:c.3021G>A NP_001394565.1:p.Met1007Ile missense NM_001407637.1:c.3021G>A NP_001394566.1:p.Met1007Ile missense NM_001407638.1:c.3021G>A NP_001394567.1:p.Met1007Ile missense NM_001407639.1:c.3024G>A NP_001394568.1:p.Met1008Ile missense NM_001407640.1:c.3024G>A NP_001394569.1:p.Met1008Ile missense NM_001407641.1:c.3024G>A NP_001394570.1:p.Met1008Ile missense NM_001407642.1:c.3024G>A NP_001394571.1:p.Met1008Ile missense NM_001407644.1:c.3021G>A NP_001394573.1:p.Met1007Ile missense NM_001407645.1:c.3021G>A NP_001394574.1:p.Met1007Ile missense NM_001407646.1:c.3015G>A NP_001394575.1:p.Met1005Ile missense NM_001407647.1:c.3015G>A NP_001394576.1:p.Met1005Ile missense NM_001407648.1:c.2901G>A NP_001394577.1:p.Met967Ile missense NM_001407649.1:c.2898G>A NP_001394578.1:p.Met966Ile missense NM_001407652.1:c.3024G>A NP_001394581.1:p.Met1008Ile missense NM_001407653.1:c.2946G>A NP_001394582.1:p.Met982Ile missense NM_001407654.1:c.2946G>A NP_001394583.1:p.Met982Ile missense NM_001407655.1:c.2946G>A NP_001394584.1:p.Met982Ile missense NM_001407656.1:c.2946G>A NP_001394585.1:p.Met982Ile missense NM_001407657.1:c.2946G>A NP_001394586.1:p.Met982Ile missense NM_001407658.1:c.2946G>A NP_001394587.1:p.Met982Ile missense NM_001407659.1:c.2943G>A NP_001394588.1:p.Met981Ile missense NM_001407660.1:c.2943G>A NP_001394589.1:p.Met981Ile missense NM_001407661.1:c.2943G>A NP_001394590.1:p.Met981Ile missense NM_001407662.1:c.2943G>A NP_001394591.1:p.Met981Ile missense NM_001407663.1:c.2946G>A NP_001394592.1:p.Met982Ile missense NM_001407664.1:c.2901G>A NP_001394593.1:p.Met967Ile missense NM_001407665.1:c.2901G>A NP_001394594.1:p.Met967Ile missense NM_001407666.1:c.2901G>A NP_001394595.1:p.Met967Ile missense NM_001407667.1:c.2901G>A NP_001394596.1:p.Met967Ile missense NM_001407668.1:c.2901G>A NP_001394597.1:p.Met967Ile missense NM_001407669.1:c.2901G>A NP_001394598.1:p.Met967Ile missense NM_001407670.1:c.2898G>A NP_001394599.1:p.Met966Ile missense NM_001407671.1:c.2898G>A NP_001394600.1:p.Met966Ile missense NM_001407672.1:c.2898G>A NP_001394601.1:p.Met966Ile missense NM_001407673.1:c.2898G>A NP_001394602.1:p.Met966Ile missense NM_001407674.1:c.2901G>A NP_001394603.1:p.Met967Ile missense NM_001407675.1:c.2901G>A NP_001394604.1:p.Met967Ile missense NM_001407676.1:c.2901G>A NP_001394605.1:p.Met967Ile missense NM_001407677.1:c.2901G>A NP_001394606.1:p.Met967Ile missense NM_001407678.1:c.2901G>A NP_001394607.1:p.Met967Ile missense NM_001407679.1:c.2901G>A NP_001394608.1:p.Met967Ile missense NM_001407680.1:c.2901G>A NP_001394609.1:p.Met967Ile missense NM_001407681.1:c.2901G>A NP_001394610.1:p.Met967Ile missense NM_001407682.1:c.2901G>A NP_001394611.1:p.Met967Ile missense NM_001407683.1:c.2901G>A NP_001394612.1:p.Met967Ile missense NM_001407684.1:c.3024G>A NP_001394613.1:p.Met1008Ile missense NM_001407685.1:c.2898G>A NP_001394614.1:p.Met966Ile missense NM_001407686.1:c.2898G>A NP_001394615.1:p.Met966Ile missense NM_001407687.1:c.2898G>A NP_001394616.1:p.Met966Ile missense NM_001407688.1:c.2898G>A NP_001394617.1:p.Met966Ile missense NM_001407689.1:c.2898G>A NP_001394618.1:p.Met966Ile missense NM_001407690.1:c.2898G>A NP_001394619.1:p.Met966Ile missense NM_001407691.1:c.2898G>A NP_001394620.1:p.Met966Ile missense NM_001407692.1:c.2883G>A NP_001394621.1:p.Met961Ile missense NM_001407694.1:c.2883G>A NP_001394623.1:p.Met961Ile missense NM_001407695.1:c.2883G>A NP_001394624.1:p.Met961Ile missense NM_001407696.1:c.2883G>A NP_001394625.1:p.Met961Ile missense NM_001407697.1:c.2883G>A NP_001394626.1:p.Met961Ile missense NM_001407698.1:c.2883G>A NP_001394627.1:p.Met961Ile missense NM_001407724.1:c.2883G>A NP_001394653.1:p.Met961Ile missense NM_001407725.1:c.2883G>A NP_001394654.1:p.Met961Ile missense NM_001407726.1:c.2883G>A NP_001394655.1:p.Met961Ile missense NM_001407727.1:c.2883G>A NP_001394656.1:p.Met961Ile missense NM_001407728.1:c.2883G>A NP_001394657.1:p.Met961Ile missense NM_001407729.1:c.2883G>A NP_001394658.1:p.Met961Ile missense NM_001407730.1:c.2883G>A NP_001394659.1:p.Met961Ile missense NM_001407731.1:c.2883G>A NP_001394660.1:p.Met961Ile missense NM_001407732.1:c.2883G>A NP_001394661.1:p.Met961Ile missense NM_001407733.1:c.2883G>A NP_001394662.1:p.Met961Ile missense NM_001407734.1:c.2883G>A NP_001394663.1:p.Met961Ile missense NM_001407735.1:c.2883G>A NP_001394664.1:p.Met961Ile missense NM_001407736.1:c.2883G>A NP_001394665.1:p.Met961Ile missense NM_001407737.1:c.2883G>A NP_001394666.1:p.Met961Ile missense NM_001407738.1:c.2883G>A NP_001394667.1:p.Met961Ile missense NM_001407739.1:c.2883G>A NP_001394668.1:p.Met961Ile missense NM_001407740.1:c.2880G>A NP_001394669.1:p.Met960Ile missense NM_001407741.1:c.2880G>A NP_001394670.1:p.Met960Ile missense NM_001407742.1:c.2880G>A NP_001394671.1:p.Met960Ile missense NM_001407743.1:c.2880G>A NP_001394672.1:p.Met960Ile missense NM_001407744.1:c.2880G>A NP_001394673.1:p.Met960Ile missense NM_001407745.1:c.2880G>A NP_001394674.1:p.Met960Ile missense NM_001407746.1:c.2880G>A NP_001394675.1:p.Met960Ile missense NM_001407747.1:c.2880G>A NP_001394676.1:p.Met960Ile missense NM_001407748.1:c.2880G>A NP_001394677.1:p.Met960Ile missense NM_001407749.1:c.2880G>A NP_001394678.1:p.Met960Ile missense NM_001407750.1:c.2883G>A NP_001394679.1:p.Met961Ile missense NM_001407751.1:c.2883G>A NP_001394680.1:p.Met961Ile missense NM_001407752.1:c.2883G>A NP_001394681.1:p.Met961Ile missense NM_001407838.1:c.2880G>A NP_001394767.1:p.Met960Ile missense NM_001407839.1:c.2880G>A NP_001394768.1:p.Met960Ile missense NM_001407841.1:c.2880G>A NP_001394770.1:p.Met960Ile missense NM_001407842.1:c.2880G>A NP_001394771.1:p.Met960Ile missense NM_001407843.1:c.2880G>A NP_001394772.1:p.Met960Ile missense NM_001407844.1:c.2880G>A NP_001394773.1:p.Met960Ile missense NM_001407845.1:c.2880G>A NP_001394774.1:p.Met960Ile missense NM_001407846.1:c.2880G>A NP_001394775.1:p.Met960Ile missense NM_001407847.1:c.2880G>A NP_001394776.1:p.Met960Ile missense NM_001407848.1:c.2880G>A NP_001394777.1:p.Met960Ile missense NM_001407849.1:c.2880G>A NP_001394778.1:p.Met960Ile missense NM_001407850.1:c.2883G>A NP_001394779.1:p.Met961Ile missense NM_001407851.1:c.2883G>A NP_001394780.1:p.Met961Ile missense NM_001407852.1:c.2883G>A NP_001394781.1:p.Met961Ile missense NM_001407853.1:c.2811G>A NP_001394782.1:p.Met937Ile missense NM_001407854.1:c.3024G>A NP_001394783.1:p.Met1008Ile missense NM_001407858.1:c.3024G>A NP_001394787.1:p.Met1008Ile missense NM_001407859.1:c.3024G>A NP_001394788.1:p.Met1008Ile missense NM_001407860.1:c.3021G>A NP_001394789.1:p.Met1007Ile missense NM_001407861.1:c.3021G>A NP_001394790.1:p.Met1007Ile missense NM_001407862.1:c.2823G>A NP_001394791.1:p.Met941Ile missense NM_001407863.1:c.2901G>A NP_001394792.1:p.Met967Ile missense NM_001407874.1:c.2820G>A NP_001394803.1:p.Met940Ile missense NM_001407875.1:c.2820G>A NP_001394804.1:p.Met940Ile missense NM_001407879.1:c.2814G>A NP_001394808.1:p.Met938Ile missense NM_001407881.1:c.2814G>A NP_001394810.1:p.Met938Ile missense NM_001407882.1:c.2814G>A NP_001394811.1:p.Met938Ile missense NM_001407884.1:c.2814G>A NP_001394813.1:p.Met938Ile missense NM_001407885.1:c.2814G>A NP_001394814.1:p.Met938Ile missense NM_001407886.1:c.2814G>A NP_001394815.1:p.Met938Ile missense NM_001407887.1:c.2814G>A NP_001394816.1:p.Met938Ile missense NM_001407889.1:c.2814G>A NP_001394818.1:p.Met938Ile missense NM_001407894.1:c.2811G>A NP_001394823.1:p.Met937Ile missense NM_001407895.1:c.2811G>A NP_001394824.1:p.Met937Ile missense NM_001407896.1:c.2811G>A NP_001394825.1:p.Met937Ile missense NM_001407897.1:c.2811G>A NP_001394826.1:p.Met937Ile missense NM_001407898.1:c.2811G>A NP_001394827.1:p.Met937Ile missense NM_001407899.1:c.2811G>A NP_001394828.1:p.Met937Ile missense NM_001407900.1:c.2814G>A NP_001394829.1:p.Met938Ile missense NM_001407902.1:c.2814G>A NP_001394831.1:p.Met938Ile missense NM_001407904.1:c.2814G>A NP_001394833.1:p.Met938Ile missense NM_001407906.1:c.2814G>A NP_001394835.1:p.Met938Ile missense NM_001407907.1:c.2814G>A NP_001394836.1:p.Met938Ile missense NM_001407908.1:c.2814G>A NP_001394837.1:p.Met938Ile missense NM_001407909.1:c.2814G>A NP_001394838.1:p.Met938Ile missense NM_001407910.1:c.2814G>A NP_001394839.1:p.Met938Ile missense NM_001407915.1:c.2811G>A NP_001394844.1:p.Met937Ile missense NM_001407916.1:c.2811G>A NP_001394845.1:p.Met937Ile missense NM_001407917.1:c.2811G>A NP_001394846.1:p.Met937Ile missense NM_001407918.1:c.2811G>A NP_001394847.1:p.Met937Ile missense NM_001407919.1:c.2901G>A NP_001394848.1:p.Met967Ile missense NM_001407920.1:c.2760G>A NP_001394849.1:p.Met920Ile missense NM_001407921.1:c.2760G>A NP_001394850.1:p.Met920Ile missense NM_001407922.1:c.2760G>A NP_001394851.1:p.Met920Ile missense NM_001407923.1:c.2760G>A NP_001394852.1:p.Met920Ile missense NM_001407924.1:c.2760G>A NP_001394853.1:p.Met920Ile missense NM_001407925.1:c.2760G>A NP_001394854.1:p.Met920Ile missense NM_001407926.1:c.2760G>A NP_001394855.1:p.Met920Ile missense NM_001407927.1:c.2760G>A NP_001394856.1:p.Met920Ile missense NM_001407928.1:c.2760G>A NP_001394857.1:p.Met920Ile missense NM_001407929.1:c.2760G>A NP_001394858.1:p.Met920Ile missense NM_001407930.1:c.2757G>A NP_001394859.1:p.Met919Ile missense NM_001407931.1:c.2757G>A NP_001394860.1:p.Met919Ile missense NM_001407932.1:c.2757G>A NP_001394861.1:p.Met919Ile missense NM_001407933.1:c.2760G>A NP_001394862.1:p.Met920Ile missense NM_001407934.1:c.2757G>A NP_001394863.1:p.Met919Ile missense NM_001407935.1:c.2760G>A NP_001394864.1:p.Met920Ile missense NM_001407936.1:c.2757G>A NP_001394865.1:p.Met919Ile missense NM_001407937.1:c.2901G>A NP_001394866.1:p.Met967Ile missense NM_001407938.1:c.2901G>A NP_001394867.1:p.Met967Ile missense NM_001407939.1:c.2901G>A NP_001394868.1:p.Met967Ile missense NM_001407940.1:c.2898G>A NP_001394869.1:p.Met966Ile missense NM_001407941.1:c.2898G>A NP_001394870.1:p.Met966Ile missense NM_001407942.1:c.2883G>A NP_001394871.1:p.Met961Ile missense NM_001407943.1:c.2880G>A NP_001394872.1:p.Met960Ile missense NM_001407944.1:c.2883G>A NP_001394873.1:p.Met961Ile missense NM_001407945.1:c.2883G>A NP_001394874.1:p.Met961Ile missense NM_001407946.1:c.2691G>A NP_001394875.1:p.Met897Ile missense NM_001407947.1:c.2691G>A NP_001394876.1:p.Met897Ile missense NM_001407948.1:c.2691G>A NP_001394877.1:p.Met897Ile missense NM_001407949.1:c.2691G>A NP_001394878.1:p.Met897Ile missense NM_001407950.1:c.2691G>A NP_001394879.1:p.Met897Ile missense NM_001407951.1:c.2691G>A NP_001394880.1:p.Met897Ile missense NM_001407952.1:c.2691G>A NP_001394881.1:p.Met897Ile missense NM_001407953.1:c.2691G>A NP_001394882.1:p.Met897Ile missense NM_001407954.1:c.2688G>A NP_001394883.1:p.Met896Ile missense NM_001407955.1:c.2688G>A NP_001394884.1:p.Met896Ile missense NM_001407956.1:c.2688G>A NP_001394885.1:p.Met896Ile missense NM_001407957.1:c.2691G>A NP_001394886.1:p.Met897Ile missense NM_001407958.1:c.2688G>A NP_001394887.1:p.Met896Ile missense NM_001407959.1:c.2643G>A NP_001394888.1:p.Met881Ile missense NM_001407960.1:c.2643G>A NP_001394889.1:p.Met881Ile missense NM_001407962.1:c.2640G>A NP_001394891.1:p.Met880Ile missense NM_001407963.1:c.2643G>A NP_001394892.1:p.Met881Ile missense NM_001407964.1:c.2880G>A NP_001394893.1:p.Met960Ile missense NM_001407965.1:c.2520G>A NP_001394894.1:p.Met840Ile missense NM_001407966.1:c.2136G>A NP_001394895.1:p.Met712Ile missense NM_001407967.1:c.2136G>A NP_001394896.1:p.Met712Ile missense NM_001407968.1:c.788-368G>A intron variant NM_001407969.1:c.788-368G>A intron variant NM_001407970.1:c.788-1475G>A intron variant NM_001407971.1:c.788-1475G>A intron variant NM_001407972.1:c.785-1475G>A intron variant NM_001407973.1:c.788-1475G>A intron variant NM_001407974.1:c.788-1475G>A intron variant NM_001407975.1:c.788-1475G>A intron variant NM_001407976.1:c.788-1475G>A intron variant NM_001407977.1:c.788-1475G>A intron variant NM_001407978.1:c.788-1475G>A intron variant NM_001407979.1:c.788-1475G>A intron variant NM_001407980.1:c.788-1475G>A intron variant NM_001407981.1:c.788-1475G>A intron variant NM_001407982.1:c.788-1475G>A intron variant NM_001407983.1:c.788-1475G>A intron variant NM_001407984.1:c.785-1475G>A intron variant NM_001407985.1:c.785-1475G>A intron variant NM_001407986.1:c.785-1475G>A intron variant NM_001407990.1:c.788-1475G>A intron variant NM_001407991.1:c.785-1475G>A intron variant NM_001407992.1:c.785-1475G>A intron variant NM_001407993.1:c.788-1475G>A intron variant NM_001408392.1:c.785-1475G>A intron variant NM_001408396.1:c.785-1475G>A intron variant NM_001408397.1:c.785-1475G>A intron variant NM_001408398.1:c.785-1475G>A intron variant NM_001408399.1:c.785-1475G>A intron variant NM_001408400.1:c.785-1475G>A intron variant NM_001408401.1:c.785-1475G>A intron variant NM_001408402.1:c.785-1475G>A intron variant NM_001408403.1:c.788-1475G>A intron variant NM_001408404.1:c.788-1475G>A intron variant NM_001408406.1:c.791-1484G>A intron variant NM_001408407.1:c.785-1475G>A intron variant NM_001408408.1:c.779-1475G>A intron variant NM_001408409.1:c.710-1475G>A intron variant NM_001408410.1:c.647-1475G>A intron variant NM_001408411.1:c.710-1475G>A intron variant NM_001408412.1:c.710-1475G>A intron variant NM_001408413.1:c.707-1475G>A intron variant NM_001408414.1:c.710-1475G>A intron variant NM_001408415.1:c.710-1475G>A intron variant NM_001408416.1:c.707-1475G>A intron variant NM_001408418.1:c.671-1475G>A intron variant NM_001408419.1:c.671-1475G>A intron variant NM_001408420.1:c.671-1475G>A intron variant NM_001408421.1:c.668-1475G>A intron variant NM_001408422.1:c.671-1475G>A intron variant NM_001408423.1:c.671-1475G>A intron variant NM_001408424.1:c.668-1475G>A intron variant NM_001408425.1:c.665-1475G>A intron variant NM_001408426.1:c.665-1475G>A intron variant NM_001408427.1:c.665-1475G>A intron variant NM_001408428.1:c.665-1475G>A intron variant NM_001408429.1:c.665-1475G>A intron variant NM_001408430.1:c.665-1475G>A intron variant NM_001408431.1:c.668-1475G>A intron variant NM_001408432.1:c.662-1475G>A intron variant NM_001408433.1:c.662-1475G>A intron variant NM_001408434.1:c.662-1475G>A intron variant NM_001408435.1:c.662-1475G>A intron variant NM_001408436.1:c.665-1475G>A intron variant NM_001408437.1:c.665-1475G>A intron variant NM_001408438.1:c.665-1475G>A intron variant NM_001408439.1:c.665-1475G>A intron variant NM_001408440.1:c.665-1475G>A intron variant NM_001408441.1:c.665-1475G>A intron variant NM_001408442.1:c.665-1475G>A intron variant NM_001408443.1:c.665-1475G>A intron variant NM_001408444.1:c.665-1475G>A intron variant NM_001408445.1:c.662-1475G>A intron variant NM_001408446.1:c.662-1475G>A intron variant NM_001408447.1:c.662-1475G>A intron variant NM_001408448.1:c.662-1475G>A intron variant NM_001408450.1:c.662-1475G>A intron variant NM_001408451.1:c.653-1475G>A intron variant NM_001408452.1:c.647-1475G>A intron variant NM_001408453.1:c.647-1475G>A intron variant NM_001408454.1:c.647-1475G>A intron variant NM_001408455.1:c.647-1475G>A intron variant NM_001408456.1:c.647-1475G>A intron variant NM_001408457.1:c.647-1475G>A intron variant NM_001408458.1:c.647-1475G>A intron variant NM_001408459.1:c.647-1475G>A intron variant NM_001408460.1:c.647-1475G>A intron variant NM_001408461.1:c.647-1475G>A intron variant NM_001408462.1:c.644-1475G>A intron variant NM_001408463.1:c.644-1475G>A intron variant NM_001408464.1:c.644-1475G>A intron variant NM_001408465.1:c.644-1475G>A intron variant NM_001408466.1:c.647-1475G>A intron variant NM_001408467.1:c.647-1475G>A intron variant NM_001408468.1:c.644-1475G>A intron variant NM_001408469.1:c.647-1475G>A intron variant NM_001408470.1:c.644-1475G>A intron variant NM_001408472.1:c.788-1475G>A intron variant NM_001408473.1:c.785-1475G>A intron variant NM_001408474.1:c.587-1475G>A intron variant NM_001408475.1:c.584-1475G>A intron variant NM_001408476.1:c.587-1475G>A intron variant NM_001408478.1:c.578-1475G>A intron variant NM_001408479.1:c.578-1475G>A intron variant NM_001408480.1:c.578-1475G>A intron variant NM_001408481.1:c.578-1475G>A intron variant NM_001408482.1:c.578-1475G>A intron variant NM_001408483.1:c.578-1475G>A intron variant NM_001408484.1:c.578-1475G>A intron variant NM_001408485.1:c.578-1475G>A intron variant NM_001408489.1:c.578-1475G>A intron variant NM_001408490.1:c.575-1475G>A intron variant NM_001408491.1:c.575-1475G>A intron variant NM_001408492.1:c.578-1475G>A intron variant NM_001408493.1:c.575-1475G>A intron variant NM_001408494.1:c.548-1475G>A intron variant NM_001408495.1:c.545-1475G>A intron variant NM_001408496.1:c.524-1475G>A intron variant NM_001408497.1:c.524-1475G>A intron variant NM_001408498.1:c.524-1475G>A intron variant NM_001408499.1:c.524-1475G>A intron variant NM_001408500.1:c.524-1475G>A intron variant NM_001408501.1:c.524-1475G>A intron variant NM_001408502.1:c.455-1475G>A intron variant NM_001408503.1:c.521-1475G>A intron variant NM_001408504.1:c.521-1475G>A intron variant NM_001408505.1:c.521-1475G>A intron variant NM_001408506.1:c.461-1475G>A intron variant NM_001408507.1:c.461-1475G>A intron variant NM_001408508.1:c.452-1475G>A intron variant NM_001408509.1:c.452-1475G>A intron variant NM_001408510.1:c.407-1475G>A intron variant NM_001408511.1:c.404-1475G>A intron variant NM_001408512.1:c.284-1475G>A intron variant NM_001408513.1:c.578-1475G>A intron variant NM_001408514.1:c.578-1475G>A intron variant NM_007297.4:c.2883G>A NP_009228.2:p.Met961Ile missense NM_007298.4:c.788-1475G>A intron variant NM_007299.4:c.788-1475G>A intron variant NM_007300.4:c.3024G>A NP_009231.2:p.Met1008Ile missense NR_027676.1:n.3160G>A NC_000017.11:g.43092507C>T NC_000017.10:g.41244524C>T NG_005905.2:g.125477G>A LRG_292:g.125477G>A LRG_292t1:c.3024G>A LRG_292p1:p.Met1008Ile P38398:p.Met1008Ile U14680.1:n.3143G>A - Protein change
- M1008I, M961I, M881I, M938I, M940I, M960I, M982I, M712I, M840I, M897I, M941I, M981I, M1005I, M880I, M919I, M920I, M937I, M966I, M967I, M1007I, M896I
- Other names
-
NP_009225.1:p.Met1008Ile
3143G>A
- Canonical SPDI
- NC_000017.11:43092506:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00060 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
1000 Genomes Project 0.00060
1000 Genomes Project 30x 0.00062
The Genome Aggregation Database (gnomAD) 0.00065
Exome Aggregation Consortium (ExAC) 0.00086
Trans-Omics for Precision Medicine (TOPMed) 0.00096
The Genome Aggregation Database (gnomAD), exomes 0.00102
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13073 | 14883 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Benign (3) |
criteria provided, multiple submitters, no conflicts
|
Nov 1, 2024 | RCV000034737.36 | |
| Benign (11) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000077535.29 | |
| Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
Feb 24, 2020 | RCV000162535.15 | |
| Benign/Likely benign (7) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000120291.30 | |
| Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV000048051.27 | |
| Likely benign (1) |
criteria provided, single submitter
|
Sep 23, 2024 | RCV004803113.1 | |
| Benign (1) |
criteria provided, single submitter
|
May 5, 2023 | RCV003492337.1 | |
| Likely benign (1) |
criteria provided, single submitter
|
Sep 2, 2021 | RCV002504869.8 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Benign
(Aug 10, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244331.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000000196 (less)
|
|
|
Likely benign
(Apr 25, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV000267854.1
First in ClinVar: Jan 31, 2016 Last updated: Jan 31, 2016 |
|
|
|
Likely benign
(Mar 29, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000538436.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.2% (25/11568) Latino; ClinVar: 5 B/LB, 3 VUS (less)
Method: Genome/Exome Filtration
|
|
|
Benign
(Jan 30, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000806927.1
First in ClinVar: Sep 13, 2018 Last updated: Sep 13, 2018 |
|
|
|
Benign
(Jun 22, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV002065814.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
|
|
|
Likely benign
(Sep 02, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002806248.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
|
Benign
(Jul 08, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001474354.4
First in ClinVar: Jan 26, 2021 Last updated: Mar 04, 2023 |
|
|
|
Benign
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004026781.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
|
|
|
Benign
(-)
|
criteria provided, single submitter
Method: not provided
|
not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005251062.1
First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024 |
|
|
|
Likely Benign
(Sep 23, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
BRCA1-related cancer predisposition
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004815616.2
First in ClinVar: Apr 20, 2024 Last updated: Dec 14, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Number of individuals with the variant: 297
Zygosity: Single Heterozygote
|
|
|
Benign
(Apr 18, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000586889.1 First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
|
|
|
Likely benign
(Aug 12, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000333834.4
First in ClinVar: Dec 06, 2016 Last updated: Sep 13, 2018 |
Number of individuals with the variant: 1
Zygosity: Single Heterozygote
Sex: mixed
|
|
|
Likely benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140564.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
|
|
|
Likely benign
(Aug 14, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001287309.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
|
Benign
(Nov 16, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002025966.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Geographic origin: South Africa
Testing laboratory: National Health Laboratory Service (NHLS)
|
|
|
Benign
(Feb 24, 2020)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538174.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
|
|
|
Likely benign
(Feb 11, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683083.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
|
|
Benign
(Jan 24, 2014)
|
criteria provided, single submitter
Method: literature only
|
Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000154015.2
First in ClinVar: Jun 04, 2014 Last updated: Dec 24, 2022 |
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Benign
(May 05, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000219225.4 First in ClinVar: Mar 29, 2015 Last updated: Feb 04, 2024 |
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Benign
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076064.16
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
|
|
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Benign
(Nov 18, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000212936.6
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Benign
(Nov 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV002585647.16
First in ClinVar: Oct 22, 2022 Last updated: Dec 22, 2024 |
Comment:
BRCA1: BP4, BS1, BS2
Number of individuals with the variant: 26
|
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Benign
(Jul 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004016751.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
|
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Likely benign
(Oct 06, 2023)
|
no assertion criteria provided
Method: research
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: no
Allele origin:
germline
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000043171.2 First in ClinVar: Apr 12, 2013 Last updated: Oct 14, 2023 |
Comment:
BS1 based on allele frequency in AJ population of 0.010807 in gnomAD. REVEL score of 0.452. PMID:23867111 showed function like WT.
Number of individuals with the variant: 3
Comment on evidence:
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for details. (less)
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Uncertain significance
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144613.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 43
Observation 2:
Number of individuals with the variant: 3
Geographic origin: Ashkenazi
Observation 3:
Number of individuals with the variant: 1
Geographic origin: Ashkenazi, Central/Eastern European
Observation 4:
Number of individuals with the variant: 1
Geographic origin: Austria
Observation 5:
Number of individuals with the variant: 1
Geographic origin: Central/Eastern European
Observation 6:
Number of individuals with the variant: 55
Ethnicity/Population group: Ashkenazi
Observation 7:
Number of individuals with the variant: 3
Ethnicity/Population group: Ashkenazi, Central/Eastern European
Observation 8:
Number of individuals with the variant: 4
Ethnicity/Population group: Central/Eastern European
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean, Hispanic
Observation 11:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean, Puerto Rican
Observation 12:
Number of individuals with the variant: 1
Ethnicity/Population group: Russian Hungarian
Observation 13:
Number of individuals with the variant: 17
Ethnicity/Population group: Western European
Observation 14:
Number of individuals with the variant: 3
Ethnicity/Population group: Western European, Ashkenazi
Observation 15:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Cape Verdean
Observation 16:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European, Central/Eastern European
Observation 17:
Number of individuals with the variant: 1
Ethnicity/Population group: Western Europeanan, Central/Eastern European
|
|
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Likely benign
(Jul 24, 2014)
|
no assertion criteria provided
Method: literature only
|
hereditary breast and ovarian cancer, BROVCA1
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000187724.1
First in ClinVar: Aug 15, 2014 Last updated: Aug 15, 2014 |
|
|
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Benign
(Oct 23, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000109336.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
|
|
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Benign
(Sep 28, 2018)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000886669.1
First in ClinVar: May 03, 2018 Last updated: May 03, 2018 |
|
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591420.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
Also identified by our lab once in an individual with a second pathogenic mutation AJ mutation - JLE
Number of individuals with the variant: 4
|
|
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Benign
(Mar 02, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004244065.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
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not provided
(Sep 19, 2013)
|
no classification provided
Method: reference population
|
AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000084443.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
|
Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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Comment:
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.2% (25/11568) Latino; ClinVar: 5 B/LB, 3 VUS
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Comment:
BRCA1: BP4, BS1, BS2
Comment:
BS1 based on allele frequency in AJ population of 0.010807 in gnomAD. REVEL score of 0.452. PMID:23867111 showed function like WT.
Comment:
Also identified by our lab once in an individual with a second pathogenic mutation AJ mutation - JLE
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000000196
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.2% (25/11568) Latino; ClinVar: 5 B/LB, 3 VUS
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Comment:
BRCA1: BP4, BS1, BS2
Comment:
BS1 based on allele frequency in AJ population of 0.010807 in gnomAD. REVEL score of 0.452. PMID:23867111 showed function like WT.
Comment:
Also identified by our lab once in an individual with a second pathogenic mutation AJ mutation - JLE
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience. | Van der Merwe NC | Frontiers in genetics | 2022 | DOI: 10.3389/fgene.2022.834265 |
| BRCA1 gene Molecular Alterations in Omani Breast Cancer Patients. | Al-Moundhri MS | The Gulf journal of oncology | 2013 | PMID: 23996866 |
| A high-throughput functional complementation assay for classification of BRCA1 missense variants. | Bouwman P | Cancer discovery | 2013 | PMID: 23867111 |
| Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | Johnston JJ | American journal of human genetics | 2012 | PMID: 22703879 |
| A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
| Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. | Capanu M | Genetic epidemiology | 2011 | PMID: 21520273 |
| Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women. | Distelman-Menachem T | Familial cancer | 2009 | PMID: 18798010 |
| BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases. | Uhrhammer N | International journal of medical sciences | 2008 | PMID: 18645608 |
| Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. | Tavtigian SV | Journal of medical genetics | 2006 | PMID: 16014699 |
| Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. | Judkins T | Mutation research | 2005 | PMID: 15829246 |
| Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
| Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. | Frank TS | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2002 | PMID: 11896095 |
| Germline BRCA1 alterations in a population-based series of ovarian cancer cases. | Janezic SA | Human molecular genetics | 1999 | PMID: 10196379 |
| Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. | Durocher F | Human molecular genetics | 1996 | PMID: 8776600 |
| http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.3024G%3EA | - | - | - | - |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 | - | - | - | - |
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Text-mined citations for rs1800704 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Dec 22, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.