ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
Variation ID: 54143 Accession: VCV000054143.68
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094394 (GRCh38) [ NCBI UCSC ] 17: 41246411 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 1, 2014 Aug 4, 2024 Jul 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1137T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile379Met missense NM_001407571.1:c.924T>G NP_001394500.1:p.Ile308Met missense NM_001407581.1:c.1137T>G NP_001394510.1:p.Ile379Met missense NM_001407582.1:c.1137T>G NP_001394511.1:p.Ile379Met missense NM_001407583.1:c.1137T>G NP_001394512.1:p.Ile379Met missense NM_001407585.1:c.1137T>G NP_001394514.1:p.Ile379Met missense NM_001407587.1:c.1134T>G NP_001394516.1:p.Ile378Met missense NM_001407590.1:c.1134T>G NP_001394519.1:p.Ile378Met missense NM_001407591.1:c.1134T>G NP_001394520.1:p.Ile378Met missense NM_001407593.1:c.1137T>G NP_001394522.1:p.Ile379Met missense NM_001407594.1:c.1137T>G NP_001394523.1:p.Ile379Met missense NM_001407596.1:c.1137T>G NP_001394525.1:p.Ile379Met missense NM_001407597.1:c.1137T>G NP_001394526.1:p.Ile379Met missense NM_001407598.1:c.1137T>G NP_001394527.1:p.Ile379Met missense NM_001407602.1:c.1137T>G NP_001394531.1:p.Ile379Met missense NM_001407603.1:c.1137T>G NP_001394532.1:p.Ile379Met missense NM_001407605.1:c.1137T>G NP_001394534.1:p.Ile379Met missense NM_001407610.1:c.1134T>G NP_001394539.1:p.Ile378Met missense NM_001407611.1:c.1134T>G NP_001394540.1:p.Ile378Met missense NM_001407612.1:c.1134T>G NP_001394541.1:p.Ile378Met missense NM_001407613.1:c.1134T>G NP_001394542.1:p.Ile378Met missense NM_001407614.1:c.1134T>G NP_001394543.1:p.Ile378Met missense NM_001407615.1:c.1134T>G NP_001394544.1:p.Ile378Met missense NM_001407616.1:c.1137T>G NP_001394545.1:p.Ile379Met missense NM_001407617.1:c.1137T>G NP_001394546.1:p.Ile379Met missense NM_001407618.1:c.1137T>G NP_001394547.1:p.Ile379Met missense NM_001407619.1:c.1137T>G NP_001394548.1:p.Ile379Met missense NM_001407620.1:c.1137T>G NP_001394549.1:p.Ile379Met missense NM_001407621.1:c.1137T>G NP_001394550.1:p.Ile379Met missense NM_001407622.1:c.1137T>G NP_001394551.1:p.Ile379Met missense NM_001407623.1:c.1137T>G NP_001394552.1:p.Ile379Met missense NM_001407624.1:c.1137T>G NP_001394553.1:p.Ile379Met missense NM_001407625.1:c.1137T>G NP_001394554.1:p.Ile379Met missense NM_001407626.1:c.1137T>G NP_001394555.1:p.Ile379Met missense NM_001407627.1:c.1134T>G NP_001394556.1:p.Ile378Met missense NM_001407628.1:c.1134T>G NP_001394557.1:p.Ile378Met missense NM_001407629.1:c.1134T>G NP_001394558.1:p.Ile378Met missense NM_001407630.1:c.1134T>G NP_001394559.1:p.Ile378Met missense NM_001407631.1:c.1134T>G NP_001394560.1:p.Ile378Met missense NM_001407632.1:c.1134T>G NP_001394561.1:p.Ile378Met missense NM_001407633.1:c.1134T>G NP_001394562.1:p.Ile378Met missense NM_001407634.1:c.1134T>G NP_001394563.1:p.Ile378Met missense NM_001407635.1:c.1134T>G NP_001394564.1:p.Ile378Met missense NM_001407636.1:c.1134T>G NP_001394565.1:p.Ile378Met missense NM_001407637.1:c.1134T>G NP_001394566.1:p.Ile378Met missense NM_001407638.1:c.1134T>G NP_001394567.1:p.Ile378Met missense NM_001407639.1:c.1137T>G NP_001394568.1:p.Ile379Met missense NM_001407640.1:c.1137T>G NP_001394569.1:p.Ile379Met missense NM_001407641.1:c.1137T>G NP_001394570.1:p.Ile379Met missense NM_001407642.1:c.1137T>G NP_001394571.1:p.Ile379Met missense NM_001407644.1:c.1134T>G NP_001394573.1:p.Ile378Met missense NM_001407645.1:c.1134T>G NP_001394574.1:p.Ile378Met missense NM_001407646.1:c.1128T>G NP_001394575.1:p.Ile376Met missense NM_001407647.1:c.1128T>G NP_001394576.1:p.Ile376Met missense NM_001407648.1:c.1014T>G NP_001394577.1:p.Ile338Met missense NM_001407649.1:c.1011T>G NP_001394578.1:p.Ile337Met missense NM_001407652.1:c.1137T>G NP_001394581.1:p.Ile379Met missense NM_001407653.1:c.1059T>G NP_001394582.1:p.Ile353Met missense NM_001407654.1:c.1059T>G NP_001394583.1:p.Ile353Met missense NM_001407655.1:c.1059T>G NP_001394584.1:p.Ile353Met missense NM_001407656.1:c.1059T>G NP_001394585.1:p.Ile353Met missense NM_001407657.1:c.1059T>G NP_001394586.1:p.Ile353Met missense NM_001407658.1:c.1059T>G NP_001394587.1:p.Ile353Met missense NM_001407659.1:c.1056T>G NP_001394588.1:p.Ile352Met missense NM_001407660.1:c.1056T>G NP_001394589.1:p.Ile352Met missense NM_001407661.1:c.1056T>G NP_001394590.1:p.Ile352Met missense NM_001407662.1:c.1056T>G NP_001394591.1:p.Ile352Met missense NM_001407663.1:c.1059T>G NP_001394592.1:p.Ile353Met missense NM_001407664.1:c.1014T>G NP_001394593.1:p.Ile338Met missense NM_001407665.1:c.1014T>G NP_001394594.1:p.Ile338Met missense NM_001407666.1:c.1014T>G NP_001394595.1:p.Ile338Met missense NM_001407667.1:c.1014T>G NP_001394596.1:p.Ile338Met missense NM_001407668.1:c.1014T>G NP_001394597.1:p.Ile338Met missense NM_001407669.1:c.1014T>G NP_001394598.1:p.Ile338Met missense NM_001407670.1:c.1011T>G NP_001394599.1:p.Ile337Met missense NM_001407671.1:c.1011T>G NP_001394600.1:p.Ile337Met missense NM_001407672.1:c.1011T>G NP_001394601.1:p.Ile337Met missense NM_001407673.1:c.1011T>G NP_001394602.1:p.Ile337Met missense NM_001407674.1:c.1014T>G NP_001394603.1:p.Ile338Met missense NM_001407675.1:c.1014T>G NP_001394604.1:p.Ile338Met missense NM_001407676.1:c.1014T>G NP_001394605.1:p.Ile338Met missense NM_001407677.1:c.1014T>G NP_001394606.1:p.Ile338Met missense NM_001407678.1:c.1014T>G NP_001394607.1:p.Ile338Met missense NM_001407679.1:c.1014T>G NP_001394608.1:p.Ile338Met missense NM_001407680.1:c.1014T>G NP_001394609.1:p.Ile338Met missense NM_001407681.1:c.1014T>G NP_001394610.1:p.Ile338Met missense NM_001407682.1:c.1014T>G NP_001394611.1:p.Ile338Met missense NM_001407683.1:c.1014T>G NP_001394612.1:p.Ile338Met missense NM_001407684.1:c.1137T>G NP_001394613.1:p.Ile379Met missense NM_001407685.1:c.1011T>G NP_001394614.1:p.Ile337Met missense NM_001407686.1:c.1011T>G NP_001394615.1:p.Ile337Met missense NM_001407687.1:c.1011T>G NP_001394616.1:p.Ile337Met missense NM_001407688.1:c.1011T>G NP_001394617.1:p.Ile337Met missense NM_001407689.1:c.1011T>G NP_001394618.1:p.Ile337Met missense NM_001407690.1:c.1011T>G NP_001394619.1:p.Ile337Met missense NM_001407691.1:c.1011T>G NP_001394620.1:p.Ile337Met missense NM_001407692.1:c.996T>G NP_001394621.1:p.Ile332Met missense NM_001407694.1:c.996T>G NP_001394623.1:p.Ile332Met missense NM_001407695.1:c.996T>G NP_001394624.1:p.Ile332Met missense NM_001407696.1:c.996T>G NP_001394625.1:p.Ile332Met missense NM_001407697.1:c.996T>G NP_001394626.1:p.Ile332Met missense NM_001407698.1:c.996T>G NP_001394627.1:p.Ile332Met missense NM_001407724.1:c.996T>G NP_001394653.1:p.Ile332Met missense NM_001407725.1:c.996T>G NP_001394654.1:p.Ile332Met missense NM_001407726.1:c.996T>G NP_001394655.1:p.Ile332Met missense NM_001407727.1:c.996T>G NP_001394656.1:p.Ile332Met missense NM_001407728.1:c.996T>G NP_001394657.1:p.Ile332Met missense NM_001407729.1:c.996T>G NP_001394658.1:p.Ile332Met missense NM_001407730.1:c.996T>G NP_001394659.1:p.Ile332Met missense NM_001407731.1:c.996T>G NP_001394660.1:p.Ile332Met missense NM_001407732.1:c.996T>G NP_001394661.1:p.Ile332Met missense NM_001407733.1:c.996T>G NP_001394662.1:p.Ile332Met missense NM_001407734.1:c.996T>G NP_001394663.1:p.Ile332Met missense NM_001407735.1:c.996T>G NP_001394664.1:p.Ile332Met missense NM_001407736.1:c.996T>G NP_001394665.1:p.Ile332Met missense NM_001407737.1:c.996T>G NP_001394666.1:p.Ile332Met missense NM_001407738.1:c.996T>G NP_001394667.1:p.Ile332Met missense NM_001407739.1:c.996T>G NP_001394668.1:p.Ile332Met missense NM_001407740.1:c.993T>G NP_001394669.1:p.Ile331Met missense NM_001407741.1:c.993T>G NP_001394670.1:p.Ile331Met missense NM_001407742.1:c.993T>G NP_001394671.1:p.Ile331Met missense NM_001407743.1:c.993T>G NP_001394672.1:p.Ile331Met missense NM_001407744.1:c.993T>G NP_001394673.1:p.Ile331Met missense NM_001407745.1:c.993T>G NP_001394674.1:p.Ile331Met missense NM_001407746.1:c.993T>G NP_001394675.1:p.Ile331Met missense NM_001407747.1:c.993T>G NP_001394676.1:p.Ile331Met missense NM_001407748.1:c.993T>G NP_001394677.1:p.Ile331Met missense NM_001407749.1:c.993T>G NP_001394678.1:p.Ile331Met missense NM_001407750.1:c.996T>G NP_001394679.1:p.Ile332Met missense NM_001407751.1:c.996T>G NP_001394680.1:p.Ile332Met missense NM_001407752.1:c.996T>G NP_001394681.1:p.Ile332Met missense NM_001407838.1:c.993T>G NP_001394767.1:p.Ile331Met missense NM_001407839.1:c.993T>G NP_001394768.1:p.Ile331Met missense NM_001407841.1:c.993T>G NP_001394770.1:p.Ile331Met missense NM_001407842.1:c.993T>G NP_001394771.1:p.Ile331Met missense NM_001407843.1:c.993T>G NP_001394772.1:p.Ile331Met missense NM_001407844.1:c.993T>G NP_001394773.1:p.Ile331Met missense NM_001407845.1:c.993T>G NP_001394774.1:p.Ile331Met missense NM_001407846.1:c.993T>G NP_001394775.1:p.Ile331Met missense NM_001407847.1:c.993T>G NP_001394776.1:p.Ile331Met missense NM_001407848.1:c.993T>G NP_001394777.1:p.Ile331Met missense NM_001407849.1:c.993T>G NP_001394778.1:p.Ile331Met missense NM_001407850.1:c.996T>G NP_001394779.1:p.Ile332Met missense NM_001407851.1:c.996T>G NP_001394780.1:p.Ile332Met missense NM_001407852.1:c.996T>G NP_001394781.1:p.Ile332Met missense NM_001407853.1:c.924T>G NP_001394782.1:p.Ile308Met missense NM_001407854.1:c.1137T>G NP_001394783.1:p.Ile379Met missense NM_001407858.1:c.1137T>G NP_001394787.1:p.Ile379Met missense NM_001407859.1:c.1137T>G NP_001394788.1:p.Ile379Met missense NM_001407860.1:c.1134T>G NP_001394789.1:p.Ile378Met missense NM_001407861.1:c.1134T>G NP_001394790.1:p.Ile378Met missense NM_001407862.1:c.936T>G NP_001394791.1:p.Ile312Met missense NM_001407863.1:c.1014T>G NP_001394792.1:p.Ile338Met missense NM_001407874.1:c.933T>G NP_001394803.1:p.Ile311Met missense NM_001407875.1:c.933T>G NP_001394804.1:p.Ile311Met missense NM_001407879.1:c.927T>G NP_001394808.1:p.Ile309Met missense NM_001407881.1:c.927T>G NP_001394810.1:p.Ile309Met missense NM_001407882.1:c.927T>G NP_001394811.1:p.Ile309Met missense NM_001407884.1:c.927T>G NP_001394813.1:p.Ile309Met missense NM_001407885.1:c.927T>G NP_001394814.1:p.Ile309Met missense NM_001407886.1:c.927T>G NP_001394815.1:p.Ile309Met missense NM_001407887.1:c.927T>G NP_001394816.1:p.Ile309Met missense NM_001407889.1:c.927T>G NP_001394818.1:p.Ile309Met missense NM_001407894.1:c.924T>G NP_001394823.1:p.Ile308Met missense NM_001407895.1:c.924T>G NP_001394824.1:p.Ile308Met missense NM_001407896.1:c.924T>G NP_001394825.1:p.Ile308Met missense NM_001407897.1:c.924T>G NP_001394826.1:p.Ile308Met missense NM_001407898.1:c.924T>G NP_001394827.1:p.Ile308Met missense NM_001407899.1:c.924T>G NP_001394828.1:p.Ile308Met missense NM_001407900.1:c.927T>G NP_001394829.1:p.Ile309Met missense NM_001407902.1:c.927T>G NP_001394831.1:p.Ile309Met missense NM_001407904.1:c.927T>G NP_001394833.1:p.Ile309Met missense NM_001407906.1:c.927T>G NP_001394835.1:p.Ile309Met missense NM_001407907.1:c.927T>G NP_001394836.1:p.Ile309Met missense NM_001407908.1:c.927T>G NP_001394837.1:p.Ile309Met missense NM_001407909.1:c.927T>G NP_001394838.1:p.Ile309Met missense NM_001407910.1:c.927T>G NP_001394839.1:p.Ile309Met missense NM_001407915.1:c.924T>G NP_001394844.1:p.Ile308Met missense NM_001407916.1:c.924T>G NP_001394845.1:p.Ile308Met missense NM_001407917.1:c.924T>G NP_001394846.1:p.Ile308Met missense NM_001407918.1:c.924T>G NP_001394847.1:p.Ile308Met missense NM_001407919.1:c.1014T>G NP_001394848.1:p.Ile338Met missense NM_001407920.1:c.873T>G NP_001394849.1:p.Ile291Met missense NM_001407921.1:c.873T>G NP_001394850.1:p.Ile291Met missense NM_001407922.1:c.873T>G NP_001394851.1:p.Ile291Met missense NM_001407923.1:c.873T>G NP_001394852.1:p.Ile291Met missense NM_001407924.1:c.873T>G NP_001394853.1:p.Ile291Met missense NM_001407925.1:c.873T>G NP_001394854.1:p.Ile291Met missense NM_001407926.1:c.873T>G NP_001394855.1:p.Ile291Met missense NM_001407927.1:c.873T>G NP_001394856.1:p.Ile291Met missense NM_001407928.1:c.873T>G NP_001394857.1:p.Ile291Met missense NM_001407929.1:c.873T>G NP_001394858.1:p.Ile291Met missense NM_001407930.1:c.870T>G NP_001394859.1:p.Ile290Met missense NM_001407931.1:c.870T>G NP_001394860.1:p.Ile290Met missense NM_001407932.1:c.870T>G NP_001394861.1:p.Ile290Met missense NM_001407933.1:c.873T>G NP_001394862.1:p.Ile291Met missense NM_001407934.1:c.870T>G NP_001394863.1:p.Ile290Met missense NM_001407935.1:c.873T>G NP_001394864.1:p.Ile291Met missense NM_001407936.1:c.870T>G NP_001394865.1:p.Ile290Met missense NM_001407937.1:c.1014T>G NP_001394866.1:p.Ile338Met missense NM_001407938.1:c.1014T>G NP_001394867.1:p.Ile338Met missense NM_001407939.1:c.1014T>G NP_001394868.1:p.Ile338Met missense NM_001407940.1:c.1011T>G NP_001394869.1:p.Ile337Met missense NM_001407941.1:c.1011T>G NP_001394870.1:p.Ile337Met missense NM_001407942.1:c.996T>G NP_001394871.1:p.Ile332Met missense NM_001407943.1:c.993T>G NP_001394872.1:p.Ile331Met missense NM_001407944.1:c.996T>G NP_001394873.1:p.Ile332Met missense NM_001407945.1:c.996T>G NP_001394874.1:p.Ile332Met missense NM_001407946.1:c.804T>G NP_001394875.1:p.Ile268Met missense NM_001407947.1:c.804T>G NP_001394876.1:p.Ile268Met missense NM_001407948.1:c.804T>G NP_001394877.1:p.Ile268Met missense NM_001407949.1:c.804T>G NP_001394878.1:p.Ile268Met missense NM_001407950.1:c.804T>G NP_001394879.1:p.Ile268Met missense NM_001407951.1:c.804T>G NP_001394880.1:p.Ile268Met missense NM_001407952.1:c.804T>G NP_001394881.1:p.Ile268Met missense NM_001407953.1:c.804T>G NP_001394882.1:p.Ile268Met missense NM_001407954.1:c.801T>G NP_001394883.1:p.Ile267Met missense NM_001407955.1:c.801T>G NP_001394884.1:p.Ile267Met missense NM_001407956.1:c.801T>G NP_001394885.1:p.Ile267Met missense NM_001407957.1:c.804T>G NP_001394886.1:p.Ile268Met missense NM_001407958.1:c.801T>G NP_001394887.1:p.Ile267Met missense NM_001407959.1:c.756T>G NP_001394888.1:p.Ile252Met missense NM_001407960.1:c.756T>G NP_001394889.1:p.Ile252Met missense NM_001407962.1:c.753T>G NP_001394891.1:p.Ile251Met missense NM_001407963.1:c.756T>G NP_001394892.1:p.Ile252Met missense NM_001407964.1:c.993T>G NP_001394893.1:p.Ile331Met missense NM_001407965.1:c.633T>G NP_001394894.1:p.Ile211Met missense NM_001407966.1:c.249T>G NP_001394895.1:p.Ile83Met missense NM_001407967.1:c.249T>G NP_001394896.1:p.Ile83Met missense NM_001407968.1:c.787+350T>G intron variant NM_001407969.1:c.787+350T>G intron variant NM_001407970.1:c.787+350T>G intron variant NM_001407971.1:c.787+350T>G intron variant NM_001407972.1:c.784+350T>G intron variant NM_001407973.1:c.787+350T>G intron variant NM_001407974.1:c.787+350T>G intron variant NM_001407975.1:c.787+350T>G intron variant NM_001407976.1:c.787+350T>G intron variant NM_001407977.1:c.787+350T>G intron variant NM_001407978.1:c.787+350T>G intron variant NM_001407979.1:c.787+350T>G intron variant NM_001407980.1:c.787+350T>G intron variant NM_001407981.1:c.787+350T>G intron variant NM_001407982.1:c.787+350T>G intron variant NM_001407983.1:c.787+350T>G intron variant NM_001407984.1:c.784+350T>G intron variant NM_001407985.1:c.784+350T>G intron variant NM_001407986.1:c.784+350T>G intron variant NM_001407990.1:c.787+350T>G intron variant NM_001407991.1:c.784+350T>G intron variant NM_001407992.1:c.784+350T>G intron variant NM_001407993.1:c.787+350T>G intron variant NM_001408392.1:c.784+350T>G intron variant NM_001408396.1:c.784+350T>G intron variant NM_001408397.1:c.784+350T>G intron variant NM_001408398.1:c.784+350T>G intron variant NM_001408399.1:c.784+350T>G intron variant NM_001408400.1:c.784+350T>G intron variant NM_001408401.1:c.784+350T>G intron variant NM_001408402.1:c.784+350T>G intron variant NM_001408403.1:c.787+350T>G intron variant NM_001408404.1:c.787+350T>G intron variant NM_001408406.1:c.790+347T>G intron variant NM_001408407.1:c.784+350T>G intron variant NM_001408408.1:c.778+350T>G intron variant NM_001408409.1:c.709+350T>G intron variant NM_001408410.1:c.646+350T>G intron variant NM_001408411.1:c.709+350T>G intron variant NM_001408412.1:c.709+350T>G intron variant NM_001408413.1:c.706+350T>G intron variant NM_001408414.1:c.709+350T>G intron variant NM_001408415.1:c.709+350T>G intron variant NM_001408416.1:c.706+350T>G intron variant NM_001408418.1:c.670+1452T>G intron variant NM_001408419.1:c.670+1452T>G intron variant NM_001408420.1:c.670+1452T>G intron variant NM_001408421.1:c.667+1452T>G intron variant NM_001408422.1:c.670+1452T>G intron variant NM_001408423.1:c.670+1452T>G intron variant NM_001408424.1:c.667+1452T>G intron variant NM_001408425.1:c.664+350T>G intron variant NM_001408426.1:c.664+350T>G intron variant NM_001408427.1:c.664+350T>G intron variant NM_001408428.1:c.664+350T>G intron variant NM_001408429.1:c.664+350T>G intron variant NM_001408430.1:c.664+350T>G intron variant NM_001408431.1:c.667+1452T>G intron variant NM_001408432.1:c.661+350T>G intron variant NM_001408433.1:c.661+350T>G intron variant NM_001408434.1:c.661+350T>G intron variant NM_001408435.1:c.661+350T>G intron variant NM_001408436.1:c.664+350T>G intron variant NM_001408437.1:c.664+350T>G intron variant NM_001408438.1:c.664+350T>G intron variant NM_001408439.1:c.664+350T>G intron variant NM_001408440.1:c.664+350T>G intron variant NM_001408441.1:c.664+350T>G intron variant NM_001408442.1:c.664+350T>G intron variant NM_001408443.1:c.664+350T>G intron variant NM_001408444.1:c.664+350T>G intron variant NM_001408445.1:c.661+350T>G intron variant NM_001408446.1:c.661+350T>G intron variant NM_001408447.1:c.661+350T>G intron variant NM_001408448.1:c.661+350T>G intron variant NM_001408450.1:c.661+350T>G intron variant NM_001408451.1:c.652+350T>G intron variant NM_001408452.1:c.646+350T>G intron variant NM_001408453.1:c.646+350T>G intron variant NM_001408454.1:c.646+350T>G intron variant NM_001408455.1:c.646+350T>G intron variant NM_001408456.1:c.646+350T>G intron variant NM_001408457.1:c.646+350T>G intron variant NM_001408458.1:c.646+350T>G intron variant NM_001408459.1:c.646+350T>G intron variant NM_001408460.1:c.646+350T>G intron variant NM_001408461.1:c.646+350T>G intron variant NM_001408462.1:c.643+350T>G intron variant NM_001408463.1:c.643+350T>G intron variant NM_001408464.1:c.643+350T>G intron variant NM_001408465.1:c.643+350T>G intron variant NM_001408466.1:c.646+350T>G intron variant NM_001408467.1:c.646+350T>G intron variant NM_001408468.1:c.643+350T>G intron variant NM_001408469.1:c.646+350T>G intron variant NM_001408470.1:c.643+350T>G intron variant NM_001408472.1:c.787+350T>G intron variant NM_001408473.1:c.784+350T>G intron variant NM_001408474.1:c.586+350T>G intron variant NM_001408475.1:c.583+350T>G intron variant NM_001408476.1:c.586+350T>G intron variant NM_001408478.1:c.577+350T>G intron variant NM_001408479.1:c.577+350T>G intron variant NM_001408480.1:c.577+350T>G intron variant NM_001408481.1:c.577+350T>G intron variant NM_001408482.1:c.577+350T>G intron variant NM_001408483.1:c.577+350T>G intron variant NM_001408484.1:c.577+350T>G intron variant NM_001408485.1:c.577+350T>G intron variant NM_001408489.1:c.577+350T>G intron variant NM_001408490.1:c.574+350T>G intron variant NM_001408491.1:c.574+350T>G intron variant NM_001408492.1:c.577+350T>G intron variant NM_001408493.1:c.574+350T>G intron variant NM_001408494.1:c.548-3362T>G intron variant NM_001408495.1:c.545-3362T>G intron variant NM_001408496.1:c.523+350T>G intron variant NM_001408497.1:c.523+350T>G intron variant NM_001408498.1:c.523+350T>G intron variant NM_001408499.1:c.523+350T>G intron variant NM_001408500.1:c.523+350T>G intron variant NM_001408501.1:c.523+350T>G intron variant NM_001408502.1:c.454+350T>G intron variant NM_001408503.1:c.520+350T>G intron variant NM_001408504.1:c.520+350T>G intron variant NM_001408505.1:c.520+350T>G intron variant NM_001408506.1:c.460+1452T>G intron variant NM_001408507.1:c.460+1452T>G intron variant NM_001408508.1:c.451+350T>G intron variant NM_001408509.1:c.451+350T>G intron variant NM_001408510.1:c.406+350T>G intron variant NM_001408511.1:c.404-3362T>G intron variant NM_001408512.1:c.283+350T>G intron variant NM_001408513.1:c.577+350T>G intron variant NM_001408514.1:c.577+350T>G intron variant NM_007297.4:c.996T>G NP_009228.2:p.Ile332Met missense NM_007298.4:c.787+350T>G intron variant NM_007299.4:c.787+350T>G intron variant NM_007300.4:c.1137T>G NP_009231.2:p.Ile379Met missense NR_027676.1:n.1273T>G NC_000017.11:g.43094394A>C NC_000017.10:g.41246411A>C NG_005905.2:g.123590T>G LRG_292:g.123590T>G LRG_292t1:c.1137T>G LRG_292p1:p.Ile379Met P38398:p.Ile379Met U14680.1:n.1256T>G - Protein change
- I379M, I332M, I291M, I309M, I337M, I352M, I353M, I267M, I268M, I290M, I338M, I378M, I83M, I211M, I251M, I252M, I308M, I311M, I312M, I331M, I376M
- Other names
- p.I379M:ATT>ATG
- Canonical SPDI
- NC_000017.11:43094393:A:C
-
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.
-
0.00260 (C)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00041
Exome Aggregation Consortium (ExAC) 0.00044
The Genome Aggregation Database (gnomAD) 0.00158
Trans-Omics for Precision Medicine (TOPMed) 0.00174
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00215
1000 Genomes Project 0.00260
1000 Genomes Project 30x 0.00265
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 |
13021 | 14825 |
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/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
Feb 5, 2024 | RCV000111560.19 | |
Benign (5) |
criteria provided, multiple submitters, no conflicts
|
Jul 31, 2024 | RCV000120301.29 | |
Benign (4) |
criteria provided, multiple submitters, no conflicts
|
Jul 2, 2020 | RCV000131737.15 | |
Benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV000167819.24 | |
Likely benign (1) |
no assertion criteria provided
|
Jun 1, 2014 | RCV000148386.11 | |
Benign (1) |
criteria provided, single submitter
|
Feb 23, 2017 | RCV000462490.9 | |
Benign/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
Jul 1, 2024 | RCV000656645.40 | |
Benign (1) |
no assertion criteria provided
|
- | RCV001353986.10 | |
Likely benign (1) |
criteria provided, single submitter
|
Mar 10, 2022 | RCV002490618.8 | |
Likely benign (1) |
criteria provided, single submitter
|
Mar 3, 2023 | RCV003492375.1 | |
BRCA1-related disorder
|
Benign (1) |
criteria provided, single submitter
|
Oct 30, 2020 | RCV004554647.1 |
click to load more click to collapse |
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. |
|
---|---|---|---|---|---|
Likely benign
(Oct 30, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000223753.1
First in ClinVar: Jun 08, 2015 Last updated: Jun 08, 2015 |
|
|
Benign
(Feb 23, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: no
Allele origin:
germline
|
Baylor Genetics
Accession: SCV000540969.1
First in ClinVar: Apr 17, 2017 Last updated: Apr 17, 2017 |
|
|
Benign
(Jun 24, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000593662.2
First in ClinVar: Oct 02, 2016 Last updated: Jun 15, 2020 |
|
|
Benign
(Feb 14, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000494348.2
First in ClinVar: Feb 04, 2017 Last updated: Dec 11, 2022 |
|
|
Likely benign
(Mar 10, 2022)
|
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: SCV002798139.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Likely benign
(Mar 03, 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
Accession: SCV004240205.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
|
|
Benign
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000075370.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
|
Benign
(Oct 30, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000311785.3
First in ClinVar: Oct 02, 2016 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
|
Benign
(Feb 05, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004818366.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 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: 96
|
|
Benign
(Nov 18, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186778.7
First in ClinVar: Aug 06, 2014 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)
|
|
Benign
(Nov 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000195890.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
|
|
Benign
(Jan 24, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000167239.11
First in ClinVar: Jun 23, 2014 Last updated: Oct 02, 2016 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
Benign
(Aug 07, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000225010.5
First in ClinVar: Jun 28, 2015 Last updated: May 03, 2018 |
Sex: mixed
|
|
Benign
(Jul 02, 2020)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002537998.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
|
Benign
(Oct 09, 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: SCV000682938.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
|
Likely benign
(Jan 21, 2014)
|
criteria provided, single submitter
Method: literature only
|
Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000154012.2
First in ClinVar: Jun 04, 2014 Last updated: Dec 24, 2022 |
|
|
Benign
(Nov 15, 2022)
|
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: SCV002819214.1
First in ClinVar: Jan 15, 2023 Last updated: Jan 15, 2023 |
|
|
Benign
(Sep 28, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001473184.3
First in ClinVar: Jan 26, 2021 Last updated: Feb 20, 2024 |
|
|
Benign
(Jul 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV005090360.1
First in ClinVar: Aug 04, 2024 Last updated: Aug 04, 2024 |
|
|
Likely benign
(Jul 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001151337.25
First in ClinVar: Feb 03, 2020 Last updated: Aug 04, 2024 |
Comment:
BRCA1: BS3:Supporting, BS1
Number of individuals with the variant: 2
|
|
Likely benign
(Jun 01, 2014)
|
no assertion criteria provided
Method: research
|
Breast cancer
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190084.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001951406.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001968842.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Benign
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144023.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 8
Observation 2:
Number of individuals with the variant: 6
Ethnicity/Population group: African
Observation 3:
Number of individuals with the variant: 2
Ethnicity/Population group: African American
Observation 4:
Number of individuals with the variant: 2
Ethnicity/Population group: African American
Geographic origin: American
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: African, Central/Eastern European
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: African, Latin American, Caribbean, African, Mexican, Western Indies
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: African, Native American
Observation 8:
Number of individuals with the variant: 1
Ethnicity/Population group: Native American, Latin American, Caribbean
Observation 9:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, African, Latin America
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Benign
(Aug 02, 2017)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000778772.1
First in ClinVar: Jun 25, 2018 Last updated: Jun 25, 2018 |
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Likely benign
(Apr 27, 2018)
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no assertion criteria provided
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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True Health Diagnostics
Accession: SCV000805226.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591318.2 First in ClinVar: Oct 02, 2016 Last updated: Apr 13, 2021 |
Comment:
The p.Ile379Met variant was identified in 3 of 634 proband chromosomes (frequency: 0.005) from individuals or families with Breast cancer and was present in 2 … (more)
The p.Ile379Met variant was identified in 3 of 634 proband chromosomes (frequency: 0.005) from individuals or families with Breast cancer and was present in 2 of 192 control chromosomes (frequency: 0.01) from healthy individuals (Fackenthal, 2005; McKean-Cowdin, 2005). The variant was also identified in dbSNP (ID: rs56128296) “With other allele”, with a minor allele frequency of 0.002 (1000 Genomes Project), NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, LOVD, ClinVar database (with conflicting data from submitters including BIC (Benign), Counsyl (likely Benign), Invitae and ITMI (not provided), and UMD (10X as a neutral variant). In UMD the variant was identified with a co-occurring pathogenic BRCA1 variant (c.815_824dup (p.Thr276AlafsX14)), increasing the likelihood that the p.Ile379Met variant does not have clinical significance. In the exome Variant Server project the variant was identified in 28 of 4406 African American alleles, increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. Studies suggest this variant is common in African populations and does not have an effect on protein function (McKean-Cowdin, 2005). The p.Ile379 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. Functional assays performed by Millot (2012) indicate no reduction in expression when this variant is present. Abkevich (2004) report this variant as having a Grantham score of 10 suggesting little to no effect on the protein. In summary, based on the above information,this variant is classified as benign. (less)
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
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ITMI
Accession: SCV000084453.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
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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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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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. | Capanu M | Genetic epidemiology | 2011 | PMID: 21520273 |
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. | Lee E | Breast cancer research : BCR | 2008 | PMID: 18284688 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
BRCA1 variants in a family study of African-American and Latina women. | McKean-Cowdin R | Human genetics | 2005 | PMID: 15726418 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. | Couch FJ | Human mutation | 1996 | PMID: 8807330 |
http://evs.gs.washington.edu/EVS/; http://www.1000genomes.org/ | - | - | - | - |
http://lgdfm3.ncifcrf.gov/bic/BIC.html | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 | - | - | - | - |
Text-mined citations for rs56128296 ...
HelpRecord last updated Sep 17, 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.