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NM_007294.4(BRCA1):c.442-2A>G AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 6, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004690079.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.442-2A>G]

NM_007294.4(BRCA1):c.442-2A>G

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.442-2A>G
HGVS:
  • NC_000017.11:g.43099882T>C
  • NG_005905.2:g.118102A>G
  • NM_001407571.1:c.232-5A>G
  • NM_001407581.1:c.442-2A>G
  • NM_001407582.1:c.442-2A>G
  • NM_001407583.1:c.442-2A>G
  • NM_001407585.1:c.442-2A>G
  • NM_001407587.1:c.442-5A>G
  • NM_001407590.1:c.442-5A>G
  • NM_001407591.1:c.442-5A>G
  • NM_001407593.1:c.442-2A>G
  • NM_001407594.1:c.442-2A>G
  • NM_001407596.1:c.442-2A>G
  • NM_001407597.1:c.442-2A>G
  • NM_001407598.1:c.442-2A>G
  • NM_001407602.1:c.442-2A>G
  • NM_001407603.1:c.442-2A>G
  • NM_001407605.1:c.442-2A>G
  • NM_001407610.1:c.442-5A>G
  • NM_001407611.1:c.442-5A>G
  • NM_001407612.1:c.442-5A>G
  • NM_001407613.1:c.442-5A>G
  • NM_001407614.1:c.442-5A>G
  • NM_001407615.1:c.442-5A>G
  • NM_001407616.1:c.442-2A>G
  • NM_001407617.1:c.442-2A>G
  • NM_001407618.1:c.442-2A>G
  • NM_001407619.1:c.442-2A>G
  • NM_001407620.1:c.442-2A>G
  • NM_001407621.1:c.442-2A>G
  • NM_001407622.1:c.442-2A>G
  • NM_001407623.1:c.442-2A>G
  • NM_001407624.1:c.442-2A>G
  • NM_001407625.1:c.442-2A>G
  • NM_001407626.1:c.442-2A>G
  • NM_001407627.1:c.442-5A>G
  • NM_001407628.1:c.442-5A>G
  • NM_001407629.1:c.442-5A>G
  • NM_001407630.1:c.442-5A>G
  • NM_001407631.1:c.442-5A>G
  • NM_001407632.1:c.442-5A>G
  • NM_001407633.1:c.442-5A>G
  • NM_001407634.1:c.442-5A>G
  • NM_001407635.1:c.442-5A>G
  • NM_001407636.1:c.442-5A>G
  • NM_001407637.1:c.442-5A>G
  • NM_001407638.1:c.442-5A>G
  • NM_001407639.1:c.442-2A>G
  • NM_001407640.1:c.442-2A>G
  • NM_001407641.1:c.442-2A>G
  • NM_001407642.1:c.442-2A>G
  • NM_001407644.1:c.442-5A>G
  • NM_001407645.1:c.442-5A>G
  • NM_001407646.1:c.433-2A>G
  • NM_001407647.1:c.433-2A>G
  • NM_001407648.1:c.442-2A>G
  • NM_001407649.1:c.442-5A>G
  • NM_001407652.1:c.442-2A>G
  • NM_001407653.1:c.364-2A>G
  • NM_001407654.1:c.364-2A>G
  • NM_001407655.1:c.364-2A>G
  • NM_001407656.1:c.364-2A>G
  • NM_001407657.1:c.364-2A>G
  • NM_001407658.1:c.364-2A>G
  • NM_001407659.1:c.364-5A>G
  • NM_001407660.1:c.364-5A>G
  • NM_001407661.1:c.364-5A>G
  • NM_001407662.1:c.364-5A>G
  • NM_001407663.1:c.364-2A>G
  • NM_001407664.1:c.442-2A>G
  • NM_001407665.1:c.442-2A>G
  • NM_001407666.1:c.442-2A>G
  • NM_001407667.1:c.442-2A>G
  • NM_001407668.1:c.442-2A>G
  • NM_001407669.1:c.442-2A>G
  • NM_001407670.1:c.442-5A>G
  • NM_001407671.1:c.442-5A>G
  • NM_001407672.1:c.442-5A>G
  • NM_001407673.1:c.442-5A>G
  • NM_001407674.1:c.442-2A>G
  • NM_001407675.1:c.442-2A>G
  • NM_001407676.1:c.442-2A>G
  • NM_001407677.1:c.442-2A>G
  • NM_001407678.1:c.442-2A>G
  • NM_001407679.1:c.442-2A>G
  • NM_001407680.1:c.442-2A>G
  • NM_001407681.1:c.442-2A>G
  • NM_001407682.1:c.442-2A>G
  • NM_001407683.1:c.442-2A>G
  • NM_001407684.1:c.442-2A>G
  • NM_001407685.1:c.442-5A>G
  • NM_001407686.1:c.442-5A>G
  • NM_001407687.1:c.442-5A>G
  • NM_001407688.1:c.442-5A>G
  • NM_001407689.1:c.442-5A>G
  • NM_001407690.1:c.442-5A>G
  • NM_001407691.1:c.442-5A>G
  • NM_001407692.1:c.301-2A>G
  • NM_001407694.1:c.301-2A>G
  • NM_001407695.1:c.301-2A>G
  • NM_001407696.1:c.301-2A>G
  • NM_001407697.1:c.301-2A>G
  • NM_001407698.1:c.301-2A>G
  • NM_001407724.1:c.301-2A>G
  • NM_001407725.1:c.301-2A>G
  • NM_001407726.1:c.301-2A>G
  • NM_001407727.1:c.301-2A>G
  • NM_001407728.1:c.301-2A>G
  • NM_001407729.1:c.301-2A>G
  • NM_001407730.1:c.301-2A>G
  • NM_001407731.1:c.301-2A>G
  • NM_001407732.1:c.301-2A>G
  • NM_001407733.1:c.301-2A>G
  • NM_001407734.1:c.301-2A>G
  • NM_001407735.1:c.301-2A>G
  • NM_001407736.1:c.301-2A>G
  • NM_001407737.1:c.301-2A>G
  • NM_001407738.1:c.301-2A>G
  • NM_001407739.1:c.301-2A>G
  • NM_001407740.1:c.301-5A>G
  • NM_001407741.1:c.301-5A>G
  • NM_001407742.1:c.301-5A>G
  • NM_001407743.1:c.301-5A>G
  • NM_001407744.1:c.301-5A>G
  • NM_001407745.1:c.301-5A>G
  • NM_001407746.1:c.301-5A>G
  • NM_001407747.1:c.301-5A>G
  • NM_001407748.1:c.301-5A>G
  • NM_001407749.1:c.301-5A>G
  • NM_001407750.1:c.301-2A>G
  • NM_001407751.1:c.301-2A>G
  • NM_001407752.1:c.301-2A>G
  • NM_001407838.1:c.301-5A>G
  • NM_001407839.1:c.301-5A>G
  • NM_001407841.1:c.301-5A>G
  • NM_001407842.1:c.301-5A>G
  • NM_001407843.1:c.301-5A>G
  • NM_001407844.1:c.301-5A>G
  • NM_001407845.1:c.301-5A>G
  • NM_001407846.1:c.301-5A>G
  • NM_001407847.1:c.301-5A>G
  • NM_001407848.1:c.301-5A>G
  • NM_001407849.1:c.301-5A>G
  • NM_001407850.1:c.301-2A>G
  • NM_001407851.1:c.301-2A>G
  • NM_001407852.1:c.301-2A>G
  • NM_001407853.1:c.232-5A>G
  • NM_001407854.1:c.442-2A>G
  • NM_001407858.1:c.442-2A>G
  • NM_001407859.1:c.442-2A>G
  • NM_001407860.1:c.442-5A>G
  • NM_001407861.1:c.442-5A>G
  • NM_001407862.1:c.364-2A>G
  • NM_001407863.1:c.442-2A>G
  • NM_001407874.1:c.364-5A>G
  • NM_001407875.1:c.364-5A>G
  • NM_001407879.1:c.232-2A>G
  • NM_001407881.1:c.232-2A>G
  • NM_001407882.1:c.232-2A>G
  • NM_001407884.1:c.232-2A>G
  • NM_001407885.1:c.232-2A>G
  • NM_001407886.1:c.232-2A>G
  • NM_001407887.1:c.232-2A>G
  • NM_001407889.1:c.232-2A>G
  • NM_001407894.1:c.232-5A>G
  • NM_001407895.1:c.232-5A>G
  • NM_001407896.1:c.232-5A>G
  • NM_001407897.1:c.232-5A>G
  • NM_001407898.1:c.232-5A>G
  • NM_001407899.1:c.232-5A>G
  • NM_001407900.1:c.232-2A>G
  • NM_001407902.1:c.232-2A>G
  • NM_001407904.1:c.232-2A>G
  • NM_001407906.1:c.232-2A>G
  • NM_001407907.1:c.232-2A>G
  • NM_001407908.1:c.232-2A>G
  • NM_001407909.1:c.232-2A>G
  • NM_001407910.1:c.232-2A>G
  • NM_001407915.1:c.232-5A>G
  • NM_001407916.1:c.232-5A>G
  • NM_001407917.1:c.232-5A>G
  • NM_001407918.1:c.232-5A>G
  • NM_001407919.1:c.442-2A>G
  • NM_001407920.1:c.301-2A>G
  • NM_001407921.1:c.301-2A>G
  • NM_001407922.1:c.301-2A>G
  • NM_001407923.1:c.301-2A>G
  • NM_001407924.1:c.301-2A>G
  • NM_001407925.1:c.301-2A>G
  • NM_001407926.1:c.301-2A>G
  • NM_001407927.1:c.301-2A>G
  • NM_001407928.1:c.301-2A>G
  • NM_001407929.1:c.301-2A>G
  • NM_001407930.1:c.301-5A>G
  • NM_001407931.1:c.301-5A>G
  • NM_001407932.1:c.301-5A>G
  • NM_001407933.1:c.301-2A>G
  • NM_001407934.1:c.301-5A>G
  • NM_001407935.1:c.301-2A>G
  • NM_001407936.1:c.301-5A>G
  • NM_001407937.1:c.442-2A>G
  • NM_001407938.1:c.442-2A>G
  • NM_001407939.1:c.442-2A>G
  • NM_001407940.1:c.442-5A>G
  • NM_001407941.1:c.442-5A>G
  • NM_001407942.1:c.301-2A>G
  • NM_001407943.1:c.301-5A>G
  • NM_001407944.1:c.301-2A>G
  • NM_001407945.1:c.301-2A>G
  • NM_001407946.1:c.232-2A>G
  • NM_001407947.1:c.232-2A>G
  • NM_001407948.1:c.232-2A>G
  • NM_001407949.1:c.232-2A>G
  • NM_001407950.1:c.232-2A>G
  • NM_001407951.1:c.232-2A>G
  • NM_001407952.1:c.232-2A>G
  • NM_001407953.1:c.232-2A>G
  • NM_001407954.1:c.232-5A>G
  • NM_001407955.1:c.232-5A>G
  • NM_001407956.1:c.232-5A>G
  • NM_001407957.1:c.232-2A>G
  • NM_001407958.1:c.232-5A>G
  • NM_001407959.1:c.61-2A>G
  • NM_001407960.1:c.61-2A>G
  • NM_001407962.1:c.61-5A>G
  • NM_001407963.1:c.61-2A>G
  • NM_001407964.1:c.301-5A>G
  • NM_001407965.1:c.61-2A>G
  • NM_001407966.1:c.-218-5022A>G
  • NM_001407967.1:c.-218-5022A>G
  • NM_001407968.1:c.442-2A>G
  • NM_001407969.1:c.442-2A>G
  • NM_001407970.1:c.442-2A>G
  • NM_001407971.1:c.442-2A>G
  • NM_001407972.1:c.442-5A>G
  • NM_001407973.1:c.442-2A>G
  • NM_001407974.1:c.442-2A>G
  • NM_001407975.1:c.442-2A>G
  • NM_001407976.1:c.442-2A>G
  • NM_001407977.1:c.442-2A>G
  • NM_001407978.1:c.442-2A>G
  • NM_001407979.1:c.442-2A>G
  • NM_001407980.1:c.442-2A>G
  • NM_001407981.1:c.442-2A>G
  • NM_001407982.1:c.442-2A>G
  • NM_001407983.1:c.442-2A>G
  • NM_001407984.1:c.442-5A>G
  • NM_001407985.1:c.442-5A>G
  • NM_001407986.1:c.442-5A>G
  • NM_001407990.1:c.442-2A>G
  • NM_001407991.1:c.442-5A>G
  • NM_001407992.1:c.442-5A>G
  • NM_001407993.1:c.442-2A>G
  • NM_001408392.1:c.442-5A>G
  • NM_001408396.1:c.442-5A>G
  • NM_001408397.1:c.442-5A>G
  • NM_001408398.1:c.442-5A>G
  • NM_001408399.1:c.442-5A>G
  • NM_001408400.1:c.442-5A>G
  • NM_001408401.1:c.442-5A>G
  • NM_001408402.1:c.442-5A>G
  • NM_001408403.1:c.442-2A>G
  • NM_001408404.1:c.442-2A>G
  • NM_001408406.1:c.442-2A>G
  • NM_001408407.1:c.442-5A>G
  • NM_001408408.1:c.433-2A>G
  • NM_001408409.1:c.364-2A>G
  • NM_001408410.1:c.301-2A>G
  • NM_001408411.1:c.364-2A>G
  • NM_001408412.1:c.364-2A>G
  • NM_001408413.1:c.364-5A>G
  • NM_001408414.1:c.364-2A>G
  • NM_001408415.1:c.364-2A>G
  • NM_001408416.1:c.364-5A>G
  • NM_001408418.1:c.442-2A>G
  • NM_001408419.1:c.442-2A>G
  • NM_001408420.1:c.442-2A>G
  • NM_001408421.1:c.442-5A>G
  • NM_001408422.1:c.442-2A>G
  • NM_001408423.1:c.442-2A>G
  • NM_001408424.1:c.442-5A>G
  • NM_001408425.1:c.442-2A>G
  • NM_001408426.1:c.442-2A>G
  • NM_001408427.1:c.442-2A>G
  • NM_001408428.1:c.442-2A>G
  • NM_001408429.1:c.442-2A>G
  • NM_001408430.1:c.442-2A>G
  • NM_001408431.1:c.442-5A>G
  • NM_001408432.1:c.442-5A>G
  • NM_001408433.1:c.442-5A>G
  • NM_001408434.1:c.442-5A>G
  • NM_001408435.1:c.442-5A>G
  • NM_001408436.1:c.442-2A>G
  • NM_001408437.1:c.442-2A>G
  • NM_001408438.1:c.442-2A>G
  • NM_001408439.1:c.442-2A>G
  • NM_001408440.1:c.442-2A>G
  • NM_001408441.1:c.442-2A>G
  • NM_001408442.1:c.442-2A>G
  • NM_001408443.1:c.442-2A>G
  • NM_001408444.1:c.442-2A>G
  • NM_001408445.1:c.442-5A>G
  • NM_001408446.1:c.442-5A>G
  • NM_001408447.1:c.442-5A>G
  • NM_001408448.1:c.442-5A>G
  • NM_001408450.1:c.442-5A>G
  • NM_001408451.1:c.310-5A>G
  • NM_001408452.1:c.301-2A>G
  • NM_001408453.1:c.301-2A>G
  • NM_001408454.1:c.301-2A>G
  • NM_001408455.1:c.301-2A>G
  • NM_001408456.1:c.301-2A>G
  • NM_001408457.1:c.301-2A>G
  • NM_001408458.1:c.301-2A>G
  • NM_001408459.1:c.301-2A>G
  • NM_001408460.1:c.301-2A>G
  • NM_001408461.1:c.301-2A>G
  • NM_001408462.1:c.301-5A>G
  • NM_001408463.1:c.301-5A>G
  • NM_001408464.1:c.301-5A>G
  • NM_001408465.1:c.301-5A>G
  • NM_001408466.1:c.301-2A>G
  • NM_001408467.1:c.301-2A>G
  • NM_001408468.1:c.301-5A>G
  • NM_001408469.1:c.301-2A>G
  • NM_001408470.1:c.301-5A>G
  • NM_001408472.1:c.442-2A>G
  • NM_001408473.1:c.442-5A>G
  • NM_001408474.1:c.364-2A>G
  • NM_001408475.1:c.364-5A>G
  • NM_001408476.1:c.364-2A>G
  • NM_001408478.1:c.232-2A>G
  • NM_001408479.1:c.232-2A>G
  • NM_001408480.1:c.232-2A>G
  • NM_001408481.1:c.232-2A>G
  • NM_001408482.1:c.232-2A>G
  • NM_001408483.1:c.232-2A>G
  • NM_001408484.1:c.232-2A>G
  • NM_001408485.1:c.232-2A>G
  • NM_001408489.1:c.232-2A>G
  • NM_001408490.1:c.232-5A>G
  • NM_001408491.1:c.232-5A>G
  • NM_001408492.1:c.232-2A>G
  • NM_001408493.1:c.232-5A>G
  • NM_001408494.1:c.442-2A>G
  • NM_001408495.1:c.442-5A>G
  • NM_001408496.1:c.301-2A>G
  • NM_001408497.1:c.301-2A>G
  • NM_001408498.1:c.301-2A>G
  • NM_001408499.1:c.301-2A>G
  • NM_001408500.1:c.301-2A>G
  • NM_001408501.1:c.301-2A>G
  • NM_001408502.1:c.232-2A>G
  • NM_001408503.1:c.301-5A>G
  • NM_001408504.1:c.301-5A>G
  • NM_001408505.1:c.301-5A>G
  • NM_001408506.1:c.232-2A>G
  • NM_001408507.1:c.232-2A>G
  • NM_001408508.1:c.232-5A>G
  • NM_001408509.1:c.232-5A>G
  • NM_001408510.1:c.61-2A>G
  • NM_001408511.1:c.301-5A>G
  • NM_001408512.1:c.61-2A>G
  • NM_001408513.1:c.232-2A>G
  • NM_001408514.1:c.232-2A>G
  • NM_007294.4:c.442-2A>GMANE SELECT
  • NM_007297.4:c.301-2A>G
  • NM_007298.4:c.442-2A>G
  • NM_007299.4:c.442-2A>G
  • NM_007300.4:c.442-2A>G
  • LRG_292:g.118102A>G
  • NC_000017.10:g.41251899T>C
  • NM_007294.3:c.442-2A>G
Links:
dbSNP: rs80358155
NCBI 1000 Genomes Browser:
rs80358155
Molecular consequence:
  • NM_001407571.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.61-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-218-5022A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-218-5022A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.310-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407582.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407583.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407585.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407593.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407594.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407596.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407597.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407598.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407602.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407603.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407605.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407616.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407617.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407618.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407619.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407620.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407621.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407622.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407623.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407624.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407625.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407626.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407639.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407640.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407641.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407642.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407646.1:c.433-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407647.1:c.433-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407648.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407652.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407653.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407654.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407655.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407656.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407657.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407658.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407663.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407664.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407665.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407666.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407667.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407668.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407669.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407674.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407675.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407676.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407677.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407678.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407679.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407680.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407681.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407682.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407683.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407684.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407692.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407694.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407695.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407696.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407697.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407698.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407724.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407725.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407726.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407727.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407728.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407729.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407730.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407731.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407732.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407733.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407734.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407735.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407736.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407737.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407738.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407739.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407750.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407751.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407752.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407850.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407851.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407852.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407854.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407858.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407859.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407862.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407863.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407879.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407881.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407882.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407884.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407885.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407886.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407887.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407889.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407900.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407902.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407904.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407906.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407907.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407908.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407909.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407910.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407919.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407920.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407921.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407922.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407923.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407924.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407925.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407926.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407927.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407928.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407929.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407933.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407935.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407937.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407938.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407939.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407942.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407944.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407945.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407946.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407947.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407948.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407949.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407950.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407951.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407952.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407953.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407957.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407959.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407960.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407963.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407965.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407968.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407969.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407970.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407971.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407973.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407974.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407975.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407976.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407977.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407978.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407979.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407980.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407981.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407982.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407983.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407990.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407993.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408403.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408404.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408406.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408408.1:c.433-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408409.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408410.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408411.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408412.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408414.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408415.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408418.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408419.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408420.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408422.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408423.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408425.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408426.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408427.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408428.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408429.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408430.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408436.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408437.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408438.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408439.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408440.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408441.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408442.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408443.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408444.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408452.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408453.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408454.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408455.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408456.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408457.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408458.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408459.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408460.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408461.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408466.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408467.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408469.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408472.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408474.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408476.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408478.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408479.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408480.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408481.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408482.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408483.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408484.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408485.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408489.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408492.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408494.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408496.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408497.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408498.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408499.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408500.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408501.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408502.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408506.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408507.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408510.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408512.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408513.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408514.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.4:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005185502Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(May 6, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos Â, Abe-Sandes K, Galvão HCR, Reis RM, de Pádua Souza C, Campacci N, Achatz MI, Brianese RC, da Cruz Formiga MN, Makdissi FB, Vargas FR, Evangelista Dos Santos AC, Seuanez HN, Lobo de Souza KR, Netto CBO, Santos-Silva P, da Silva GS, Burbano RMR, et al.

Sci Rep. 2018 Jun 15;8(1):9188. doi: 10.1038/s41598-018-27315-2.

PubMed [citation]
PMID:
29907814
PMCID:
PMC6003960

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005185502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: BRCA1 c.442-2A>G is located in a canonical splice-site and is predicted to affect mRNA splicing. Several computational tools predict a significant impact on normal splicing: Two predict the variant abolishes a 3' acceptor site. Three predict the variant strengthens a cryptic 3' acceptor site. One predict the variant creates a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. A study shows that disruption of this splice site results in activation of a cryptic splice site three bp downstream (PMID 24569164). The variant was absent in 251404 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.442-2A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 29907814, 24569164). ClinVar contains an entry for this variant (Variation ID: 1026850). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 18, 2024