ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4304A>G (p.Asp1435Gly)
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.4304A>G (p.Asp1435Gly)
Variation ID: 234039 Accession: VCV000234039.17
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082457 (GRCh38) [ NCBI UCSC ] 17: 41234474 (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 May 29, 2016 May 1, 2024 May 22, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4304A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1435Gly missense NM_001407571.1:c.4091A>G NP_001394500.1:p.Asp1364Gly missense NM_001407581.1:c.4304A>G NP_001394510.1:p.Asp1435Gly missense NM_001407582.1:c.4304A>G NP_001394511.1:p.Asp1435Gly missense NM_001407583.1:c.4304A>G NP_001394512.1:p.Asp1435Gly missense NM_001407585.1:c.4304A>G NP_001394514.1:p.Asp1435Gly missense NM_001407587.1:c.4301A>G NP_001394516.1:p.Asp1434Gly missense NM_001407590.1:c.4301A>G NP_001394519.1:p.Asp1434Gly missense NM_001407591.1:c.4301A>G NP_001394520.1:p.Asp1434Gly missense NM_001407593.1:c.4304A>G NP_001394522.1:p.Asp1435Gly missense NM_001407594.1:c.4304A>G NP_001394523.1:p.Asp1435Gly missense NM_001407596.1:c.4304A>G NP_001394525.1:p.Asp1435Gly missense NM_001407597.1:c.4304A>G NP_001394526.1:p.Asp1435Gly missense NM_001407598.1:c.4304A>G NP_001394527.1:p.Asp1435Gly missense NM_001407602.1:c.4304A>G NP_001394531.1:p.Asp1435Gly missense NM_001407603.1:c.4304A>G NP_001394532.1:p.Asp1435Gly missense NM_001407605.1:c.4304A>G NP_001394534.1:p.Asp1435Gly missense NM_001407610.1:c.4301A>G NP_001394539.1:p.Asp1434Gly missense NM_001407611.1:c.4301A>G NP_001394540.1:p.Asp1434Gly missense NM_001407612.1:c.4301A>G NP_001394541.1:p.Asp1434Gly missense NM_001407613.1:c.4301A>G NP_001394542.1:p.Asp1434Gly missense NM_001407614.1:c.4301A>G NP_001394543.1:p.Asp1434Gly missense NM_001407615.1:c.4301A>G NP_001394544.1:p.Asp1434Gly missense NM_001407616.1:c.4304A>G NP_001394545.1:p.Asp1435Gly missense NM_001407617.1:c.4304A>G NP_001394546.1:p.Asp1435Gly missense NM_001407618.1:c.4304A>G NP_001394547.1:p.Asp1435Gly missense NM_001407619.1:c.4304A>G NP_001394548.1:p.Asp1435Gly missense NM_001407620.1:c.4304A>G NP_001394549.1:p.Asp1435Gly missense NM_001407621.1:c.4304A>G NP_001394550.1:p.Asp1435Gly missense NM_001407622.1:c.4304A>G NP_001394551.1:p.Asp1435Gly missense NM_001407623.1:c.4304A>G NP_001394552.1:p.Asp1435Gly missense NM_001407624.1:c.4301A>G NP_001394553.1:p.Asp1434Gly missense NM_001407625.1:c.4301A>G NP_001394554.1:p.Asp1434Gly missense NM_001407626.1:c.4301A>G NP_001394555.1:p.Asp1434Gly missense NM_001407627.1:c.4298A>G NP_001394556.1:p.Asp1433Gly missense NM_001407628.1:c.4298A>G NP_001394557.1:p.Asp1433Gly missense NM_001407629.1:c.4298A>G NP_001394558.1:p.Asp1433Gly missense NM_001407630.1:c.4298A>G NP_001394559.1:p.Asp1433Gly missense NM_001407631.1:c.4298A>G NP_001394560.1:p.Asp1433Gly missense NM_001407632.1:c.4298A>G NP_001394561.1:p.Asp1433Gly missense NM_001407633.1:c.4301A>G NP_001394562.1:p.Asp1434Gly missense NM_001407634.1:c.4301A>G NP_001394563.1:p.Asp1434Gly missense NM_001407635.1:c.4301A>G NP_001394564.1:p.Asp1434Gly missense NM_001407636.1:c.4301A>G NP_001394565.1:p.Asp1434Gly missense NM_001407637.1:c.4301A>G NP_001394566.1:p.Asp1434Gly missense NM_001407638.1:c.4301A>G NP_001394567.1:p.Asp1434Gly missense NM_001407639.1:c.4301A>G NP_001394568.1:p.Asp1434Gly missense NM_001407640.1:c.4301A>G NP_001394569.1:p.Asp1434Gly missense NM_001407641.1:c.4301A>G NP_001394570.1:p.Asp1434Gly missense NM_001407642.1:c.4301A>G NP_001394571.1:p.Asp1434Gly missense NM_001407644.1:c.4298A>G NP_001394573.1:p.Asp1433Gly missense NM_001407645.1:c.4298A>G NP_001394574.1:p.Asp1433Gly missense NM_001407646.1:c.4292A>G NP_001394575.1:p.Asp1431Gly missense NM_001407647.1:c.4292A>G NP_001394576.1:p.Asp1431Gly missense NM_001407648.1:c.4181A>G NP_001394577.1:p.Asp1394Gly missense NM_001407649.1:c.4178A>G NP_001394578.1:p.Asp1393Gly missense NM_001407652.1:c.4304A>G NP_001394581.1:p.Asp1435Gly missense NM_001407653.1:c.4226A>G NP_001394582.1:p.Asp1409Gly missense NM_001407654.1:c.4226A>G NP_001394583.1:p.Asp1409Gly missense NM_001407655.1:c.4226A>G NP_001394584.1:p.Asp1409Gly missense NM_001407656.1:c.4223A>G NP_001394585.1:p.Asp1408Gly missense NM_001407657.1:c.4226A>G NP_001394586.1:p.Asp1409Gly missense NM_001407658.1:c.4226A>G NP_001394587.1:p.Asp1409Gly missense NM_001407659.1:c.4220A>G NP_001394588.1:p.Asp1407Gly missense NM_001407660.1:c.4220A>G NP_001394589.1:p.Asp1407Gly missense NM_001407661.1:c.4223A>G NP_001394590.1:p.Asp1408Gly missense NM_001407662.1:c.4223A>G NP_001394591.1:p.Asp1408Gly missense NM_001407663.1:c.4223A>G NP_001394592.1:p.Asp1408Gly missense NM_001407664.1:c.4181A>G NP_001394593.1:p.Asp1394Gly missense NM_001407665.1:c.4181A>G NP_001394594.1:p.Asp1394Gly missense NM_001407666.1:c.4181A>G NP_001394595.1:p.Asp1394Gly missense NM_001407667.1:c.4181A>G NP_001394596.1:p.Asp1394Gly missense NM_001407668.1:c.4181A>G NP_001394597.1:p.Asp1394Gly missense NM_001407669.1:c.4181A>G NP_001394598.1:p.Asp1394Gly missense NM_001407670.1:c.4178A>G NP_001394599.1:p.Asp1393Gly missense NM_001407671.1:c.4178A>G NP_001394600.1:p.Asp1393Gly missense NM_001407672.1:c.4178A>G NP_001394601.1:p.Asp1393Gly missense NM_001407673.1:c.4178A>G NP_001394602.1:p.Asp1393Gly missense NM_001407674.1:c.4178A>G NP_001394603.1:p.Asp1393Gly missense NM_001407675.1:c.4178A>G NP_001394604.1:p.Asp1393Gly missense NM_001407676.1:c.4178A>G NP_001394605.1:p.Asp1393Gly missense NM_001407677.1:c.4181A>G NP_001394606.1:p.Asp1394Gly missense NM_001407678.1:c.4181A>G NP_001394607.1:p.Asp1394Gly missense NM_001407679.1:c.4181A>G NP_001394608.1:p.Asp1394Gly missense NM_001407680.1:c.4181A>G NP_001394609.1:p.Asp1394Gly missense NM_001407681.1:c.4178A>G NP_001394610.1:p.Asp1393Gly missense NM_001407682.1:c.4178A>G NP_001394611.1:p.Asp1393Gly missense NM_001407683.1:c.4178A>G NP_001394612.1:p.Asp1393Gly missense NM_001407684.1:c.4304A>G NP_001394613.1:p.Asp1435Gly missense NM_001407685.1:c.4175A>G NP_001394614.1:p.Asp1392Gly missense NM_001407686.1:c.4175A>G NP_001394615.1:p.Asp1392Gly missense NM_001407687.1:c.4175A>G NP_001394616.1:p.Asp1392Gly missense NM_001407688.1:c.4178A>G NP_001394617.1:p.Asp1393Gly missense NM_001407689.1:c.4178A>G NP_001394618.1:p.Asp1393Gly missense NM_001407690.1:c.4175A>G NP_001394619.1:p.Asp1392Gly missense NM_001407691.1:c.4175A>G NP_001394620.1:p.Asp1392Gly missense NM_001407692.1:c.4163A>G NP_001394621.1:p.Asp1388Gly missense NM_001407694.1:c.4163A>G NP_001394623.1:p.Asp1388Gly missense NM_001407695.1:c.4163A>G NP_001394624.1:p.Asp1388Gly missense NM_001407696.1:c.4163A>G NP_001394625.1:p.Asp1388Gly missense NM_001407697.1:c.4163A>G NP_001394626.1:p.Asp1388Gly missense NM_001407698.1:c.4163A>G NP_001394627.1:p.Asp1388Gly missense NM_001407724.1:c.4163A>G NP_001394653.1:p.Asp1388Gly missense NM_001407725.1:c.4163A>G NP_001394654.1:p.Asp1388Gly missense NM_001407726.1:c.4163A>G NP_001394655.1:p.Asp1388Gly missense NM_001407727.1:c.4163A>G NP_001394656.1:p.Asp1388Gly missense NM_001407728.1:c.4163A>G NP_001394657.1:p.Asp1388Gly missense NM_001407729.1:c.4163A>G NP_001394658.1:p.Asp1388Gly missense NM_001407730.1:c.4163A>G NP_001394659.1:p.Asp1388Gly missense NM_001407731.1:c.4163A>G NP_001394660.1:p.Asp1388Gly missense NM_001407732.1:c.4163A>G NP_001394661.1:p.Asp1388Gly missense NM_001407733.1:c.4163A>G NP_001394662.1:p.Asp1388Gly missense NM_001407734.1:c.4163A>G NP_001394663.1:p.Asp1388Gly missense NM_001407735.1:c.4163A>G NP_001394664.1:p.Asp1388Gly missense NM_001407736.1:c.4163A>G NP_001394665.1:p.Asp1388Gly missense NM_001407737.1:c.4163A>G NP_001394666.1:p.Asp1388Gly missense NM_001407738.1:c.4163A>G NP_001394667.1:p.Asp1388Gly missense NM_001407739.1:c.4163A>G NP_001394668.1:p.Asp1388Gly missense NM_001407740.1:c.4160A>G NP_001394669.1:p.Asp1387Gly missense NM_001407741.1:c.4160A>G NP_001394670.1:p.Asp1387Gly missense NM_001407742.1:c.4160A>G NP_001394671.1:p.Asp1387Gly missense NM_001407743.1:c.4160A>G NP_001394672.1:p.Asp1387Gly missense NM_001407744.1:c.4160A>G NP_001394673.1:p.Asp1387Gly missense NM_001407745.1:c.4160A>G NP_001394674.1:p.Asp1387Gly missense NM_001407746.1:c.4160A>G NP_001394675.1:p.Asp1387Gly missense NM_001407747.1:c.4160A>G NP_001394676.1:p.Asp1387Gly missense NM_001407748.1:c.4160A>G NP_001394677.1:p.Asp1387Gly missense NM_001407749.1:c.4160A>G NP_001394678.1:p.Asp1387Gly missense NM_001407750.1:c.4160A>G NP_001394679.1:p.Asp1387Gly missense NM_001407751.1:c.4160A>G NP_001394680.1:p.Asp1387Gly missense NM_001407752.1:c.4160A>G NP_001394681.1:p.Asp1387Gly missense NM_001407838.1:c.4160A>G NP_001394767.1:p.Asp1387Gly missense NM_001407839.1:c.4160A>G NP_001394768.1:p.Asp1387Gly missense NM_001407841.1:c.4160A>G NP_001394770.1:p.Asp1387Gly missense NM_001407842.1:c.4160A>G NP_001394771.1:p.Asp1387Gly missense NM_001407843.1:c.4160A>G NP_001394772.1:p.Asp1387Gly missense NM_001407844.1:c.4160A>G NP_001394773.1:p.Asp1387Gly missense NM_001407845.1:c.4160A>G NP_001394774.1:p.Asp1387Gly missense NM_001407846.1:c.4160A>G NP_001394775.1:p.Asp1387Gly missense NM_001407847.1:c.4157A>G NP_001394776.1:p.Asp1386Gly missense NM_001407848.1:c.4157A>G NP_001394777.1:p.Asp1386Gly missense NM_001407849.1:c.4157A>G NP_001394778.1:p.Asp1386Gly missense NM_001407850.1:c.4160A>G NP_001394779.1:p.Asp1387Gly missense NM_001407851.1:c.4160A>G NP_001394780.1:p.Asp1387Gly missense NM_001407852.1:c.4160A>G NP_001394781.1:p.Asp1387Gly missense NM_001407853.1:c.4091A>G NP_001394782.1:p.Asp1364Gly missense NM_001407854.1:c.4304A>G NP_001394783.1:p.Asp1435Gly missense NM_001407858.1:c.4304A>G NP_001394787.1:p.Asp1435Gly missense NM_001407859.1:c.4304A>G NP_001394788.1:p.Asp1435Gly missense NM_001407860.1:c.4301A>G NP_001394789.1:p.Asp1434Gly missense NM_001407861.1:c.4301A>G NP_001394790.1:p.Asp1434Gly missense NM_001407862.1:c.4103A>G NP_001394791.1:p.Asp1368Gly missense NM_001407863.1:c.4181A>G NP_001394792.1:p.Asp1394Gly missense NM_001407874.1:c.4100A>G NP_001394803.1:p.Asp1367Gly missense NM_001407875.1:c.4100A>G NP_001394804.1:p.Asp1367Gly missense NM_001407879.1:c.4094A>G NP_001394808.1:p.Asp1365Gly missense NM_001407881.1:c.4094A>G NP_001394810.1:p.Asp1365Gly missense NM_001407882.1:c.4094A>G NP_001394811.1:p.Asp1365Gly missense NM_001407884.1:c.4094A>G NP_001394813.1:p.Asp1365Gly missense NM_001407885.1:c.4094A>G NP_001394814.1:p.Asp1365Gly missense NM_001407886.1:c.4094A>G NP_001394815.1:p.Asp1365Gly missense NM_001407887.1:c.4094A>G NP_001394816.1:p.Asp1365Gly missense NM_001407889.1:c.4094A>G NP_001394818.1:p.Asp1365Gly missense NM_001407894.1:c.4091A>G NP_001394823.1:p.Asp1364Gly missense NM_001407895.1:c.4091A>G NP_001394824.1:p.Asp1364Gly missense NM_001407896.1:c.4091A>G NP_001394825.1:p.Asp1364Gly missense NM_001407897.1:c.4091A>G NP_001394826.1:p.Asp1364Gly missense NM_001407898.1:c.4091A>G NP_001394827.1:p.Asp1364Gly missense NM_001407899.1:c.4091A>G NP_001394828.1:p.Asp1364Gly missense NM_001407900.1:c.4094A>G NP_001394829.1:p.Asp1365Gly missense NM_001407902.1:c.4094A>G NP_001394831.1:p.Asp1365Gly missense NM_001407904.1:c.4094A>G NP_001394833.1:p.Asp1365Gly missense NM_001407906.1:c.4094A>G NP_001394835.1:p.Asp1365Gly missense NM_001407907.1:c.4091A>G NP_001394836.1:p.Asp1364Gly missense NM_001407908.1:c.4091A>G NP_001394837.1:p.Asp1364Gly missense NM_001407909.1:c.4091A>G NP_001394838.1:p.Asp1364Gly missense NM_001407910.1:c.4091A>G NP_001394839.1:p.Asp1364Gly missense NM_001407915.1:c.4088A>G NP_001394844.1:p.Asp1363Gly missense NM_001407916.1:c.4091A>G NP_001394845.1:p.Asp1364Gly missense NM_001407917.1:c.4091A>G NP_001394846.1:p.Asp1364Gly missense NM_001407918.1:c.4091A>G NP_001394847.1:p.Asp1364Gly missense NM_001407919.1:c.4181A>G NP_001394848.1:p.Asp1394Gly missense NM_001407920.1:c.4040A>G NP_001394849.1:p.Asp1347Gly missense NM_001407921.1:c.4040A>G NP_001394850.1:p.Asp1347Gly missense NM_001407922.1:c.4040A>G NP_001394851.1:p.Asp1347Gly missense NM_001407923.1:c.4040A>G NP_001394852.1:p.Asp1347Gly missense NM_001407924.1:c.4040A>G NP_001394853.1:p.Asp1347Gly missense NM_001407925.1:c.4040A>G NP_001394854.1:p.Asp1347Gly missense NM_001407926.1:c.4040A>G NP_001394855.1:p.Asp1347Gly missense NM_001407927.1:c.4040A>G NP_001394856.1:p.Asp1347Gly missense NM_001407928.1:c.4040A>G NP_001394857.1:p.Asp1347Gly missense NM_001407929.1:c.4040A>G NP_001394858.1:p.Asp1347Gly missense NM_001407930.1:c.4037A>G NP_001394859.1:p.Asp1346Gly missense NM_001407931.1:c.4037A>G NP_001394860.1:p.Asp1346Gly missense NM_001407932.1:c.4037A>G NP_001394861.1:p.Asp1346Gly missense NM_001407933.1:c.4037A>G NP_001394862.1:p.Asp1346Gly missense NM_001407934.1:c.4034A>G NP_001394863.1:p.Asp1345Gly missense NM_001407935.1:c.4037A>G NP_001394864.1:p.Asp1346Gly missense NM_001407936.1:c.4037A>G NP_001394865.1:p.Asp1346Gly missense NM_001407937.1:c.4181A>G NP_001394866.1:p.Asp1394Gly missense NM_001407938.1:c.4181A>G NP_001394867.1:p.Asp1394Gly missense NM_001407939.1:c.4181A>G NP_001394868.1:p.Asp1394Gly missense NM_001407940.1:c.4178A>G NP_001394869.1:p.Asp1393Gly missense NM_001407941.1:c.4178A>G NP_001394870.1:p.Asp1393Gly missense NM_001407942.1:c.4163A>G NP_001394871.1:p.Asp1388Gly missense NM_001407943.1:c.4160A>G NP_001394872.1:p.Asp1387Gly missense NM_001407944.1:c.4163A>G NP_001394873.1:p.Asp1388Gly missense NM_001407945.1:c.4163A>G NP_001394874.1:p.Asp1388Gly missense NM_001407946.1:c.3971A>G NP_001394875.1:p.Asp1324Gly missense NM_001407947.1:c.3971A>G NP_001394876.1:p.Asp1324Gly missense NM_001407948.1:c.3971A>G NP_001394877.1:p.Asp1324Gly missense NM_001407949.1:c.3971A>G NP_001394878.1:p.Asp1324Gly missense NM_001407950.1:c.3971A>G NP_001394879.1:p.Asp1324Gly missense NM_001407951.1:c.3971A>G NP_001394880.1:p.Asp1324Gly missense NM_001407952.1:c.3968A>G NP_001394881.1:p.Asp1323Gly missense NM_001407953.1:c.3968A>G NP_001394882.1:p.Asp1323Gly missense NM_001407954.1:c.3968A>G NP_001394883.1:p.Asp1323Gly missense NM_001407955.1:c.3968A>G NP_001394884.1:p.Asp1323Gly missense NM_001407956.1:c.3965A>G NP_001394885.1:p.Asp1322Gly missense NM_001407957.1:c.3968A>G NP_001394886.1:p.Asp1323Gly missense NM_001407958.1:c.3968A>G NP_001394887.1:p.Asp1323Gly missense NM_001407959.1:c.3923A>G NP_001394888.1:p.Asp1308Gly missense NM_001407960.1:c.3923A>G NP_001394889.1:p.Asp1308Gly missense NM_001407962.1:c.3920A>G NP_001394891.1:p.Asp1307Gly missense NM_001407963.1:c.3920A>G NP_001394892.1:p.Asp1307Gly missense NM_001407964.1:c.4160A>G NP_001394893.1:p.Asp1387Gly missense NM_001407965.1:c.3797A>G NP_001394894.1:p.Asp1266Gly missense NM_001407966.1:c.3416A>G NP_001394895.1:p.Asp1139Gly missense NM_001407967.1:c.3416A>G NP_001394896.1:p.Asp1139Gly missense NM_001407968.1:c.1700A>G NP_001394897.1:p.Asp567Gly missense NM_001407969.1:c.1697A>G NP_001394898.1:p.Asp566Gly missense NM_001407970.1:c.995A>G NP_001394899.1:p.Asp332Gly missense NM_001407971.1:c.995A>G NP_001394900.1:p.Asp332Gly missense NM_001407972.1:c.992A>G NP_001394901.1:p.Asp331Gly missense NM_001407973.1:c.995A>G NP_001394902.1:p.Asp332Gly missense NM_001407974.1:c.995A>G NP_001394903.1:p.Asp332Gly missense NM_001407975.1:c.995A>G NP_001394904.1:p.Asp332Gly missense NM_001407976.1:c.995A>G NP_001394905.1:p.Asp332Gly missense NM_001407977.1:c.995A>G NP_001394906.1:p.Asp332Gly missense NM_001407978.1:c.995A>G NP_001394907.1:p.Asp332Gly missense NM_001407979.1:c.992A>G NP_001394908.1:p.Asp331Gly missense NM_001407980.1:c.992A>G NP_001394909.1:p.Asp331Gly missense NM_001407981.1:c.992A>G NP_001394910.1:p.Asp331Gly missense NM_001407982.1:c.992A>G NP_001394911.1:p.Asp331Gly missense NM_001407983.1:c.992A>G NP_001394912.1:p.Asp331Gly missense NM_001407984.1:c.992A>G NP_001394913.1:p.Asp331Gly missense NM_001407985.1:c.992A>G NP_001394914.1:p.Asp331Gly missense NM_001407986.1:c.992A>G NP_001394915.1:p.Asp331Gly missense NM_001407990.1:c.992A>G NP_001394919.1:p.Asp331Gly missense NM_001407991.1:c.992A>G NP_001394920.1:p.Asp331Gly missense NM_001407992.1:c.992A>G NP_001394921.1:p.Asp331Gly missense NM_001407993.1:c.995A>G NP_001394922.1:p.Asp332Gly missense NM_001408392.1:c.992A>G NP_001395321.1:p.Asp331Gly missense NM_001408396.1:c.992A>G NP_001395325.1:p.Asp331Gly missense NM_001408397.1:c.992A>G NP_001395326.1:p.Asp331Gly missense NM_001408398.1:c.992A>G NP_001395327.1:p.Asp331Gly missense NM_001408399.1:c.992A>G NP_001395328.1:p.Asp331Gly missense NM_001408400.1:c.989A>G NP_001395329.1:p.Asp330Gly missense NM_001408401.1:c.989A>G NP_001395330.1:p.Asp330Gly missense NM_001408402.1:c.989A>G NP_001395331.1:p.Asp330Gly missense NM_001408403.1:c.992A>G NP_001395332.1:p.Asp331Gly missense NM_001408404.1:c.992A>G NP_001395333.1:p.Asp331Gly missense NM_001408406.1:c.986A>G NP_001395335.1:p.Asp329Gly missense NM_001408407.1:c.989A>G NP_001395336.1:p.Asp330Gly missense NM_001408408.1:c.986A>G NP_001395337.1:p.Asp329Gly missense NM_001408409.1:c.917A>G NP_001395338.1:p.Asp306Gly missense NM_001408410.1:c.854A>G NP_001395339.1:p.Asp285Gly missense NM_001408411.1:c.917A>G NP_001395340.1:p.Asp306Gly missense NM_001408412.1:c.917A>G NP_001395341.1:p.Asp306Gly missense NM_001408413.1:c.914A>G NP_001395342.1:p.Asp305Gly missense NM_001408414.1:c.917A>G NP_001395343.1:p.Asp306Gly missense NM_001408415.1:c.917A>G NP_001395344.1:p.Asp306Gly missense NM_001408416.1:c.914A>G NP_001395345.1:p.Asp305Gly missense NM_001408418.1:c.878A>G NP_001395347.1:p.Asp293Gly missense NM_001408419.1:c.878A>G NP_001395348.1:p.Asp293Gly missense NM_001408420.1:c.878A>G NP_001395349.1:p.Asp293Gly missense NM_001408421.1:c.875A>G NP_001395350.1:p.Asp292Gly missense NM_001408422.1:c.878A>G NP_001395351.1:p.Asp293Gly missense NM_001408423.1:c.878A>G NP_001395352.1:p.Asp293Gly missense NM_001408424.1:c.875A>G NP_001395353.1:p.Asp292Gly missense NM_001408425.1:c.872A>G NP_001395354.1:p.Asp291Gly missense NM_001408426.1:c.872A>G NP_001395355.1:p.Asp291Gly missense NM_001408427.1:c.872A>G NP_001395356.1:p.Asp291Gly missense NM_001408428.1:c.872A>G NP_001395357.1:p.Asp291Gly missense NM_001408429.1:c.872A>G NP_001395358.1:p.Asp291Gly missense NM_001408430.1:c.872A>G NP_001395359.1:p.Asp291Gly missense NM_001408431.1:c.875A>G NP_001395360.1:p.Asp292Gly missense NM_001408432.1:c.869A>G NP_001395361.1:p.Asp290Gly missense NM_001408433.1:c.869A>G NP_001395362.1:p.Asp290Gly missense NM_001408434.1:c.869A>G NP_001395363.1:p.Asp290Gly missense NM_001408435.1:c.869A>G NP_001395364.1:p.Asp290Gly missense NM_001408436.1:c.872A>G NP_001395365.1:p.Asp291Gly missense NM_001408437.1:c.872A>G NP_001395366.1:p.Asp291Gly missense NM_001408438.1:c.872A>G NP_001395367.1:p.Asp291Gly missense NM_001408439.1:c.872A>G NP_001395368.1:p.Asp291Gly missense NM_001408440.1:c.872A>G NP_001395369.1:p.Asp291Gly missense NM_001408441.1:c.869A>G NP_001395370.1:p.Asp290Gly missense NM_001408442.1:c.869A>G NP_001395371.1:p.Asp290Gly missense NM_001408443.1:c.869A>G NP_001395372.1:p.Asp290Gly missense NM_001408444.1:c.869A>G NP_001395373.1:p.Asp290Gly missense NM_001408445.1:c.869A>G NP_001395374.1:p.Asp290Gly missense NM_001408446.1:c.869A>G NP_001395375.1:p.Asp290Gly missense NM_001408447.1:c.869A>G NP_001395376.1:p.Asp290Gly missense NM_001408448.1:c.869A>G NP_001395377.1:p.Asp290Gly missense NM_001408450.1:c.869A>G NP_001395379.1:p.Asp290Gly missense NM_001408451.1:c.860A>G NP_001395380.1:p.Asp287Gly missense NM_001408452.1:c.854A>G NP_001395381.1:p.Asp285Gly missense NM_001408453.1:c.854A>G NP_001395382.1:p.Asp285Gly missense NM_001408454.1:c.854A>G NP_001395383.1:p.Asp285Gly missense NM_001408455.1:c.854A>G NP_001395384.1:p.Asp285Gly missense NM_001408456.1:c.854A>G NP_001395385.1:p.Asp285Gly missense NM_001408457.1:c.854A>G NP_001395386.1:p.Asp285Gly missense NM_001408458.1:c.854A>G NP_001395387.1:p.Asp285Gly missense NM_001408459.1:c.854A>G NP_001395388.1:p.Asp285Gly missense NM_001408460.1:c.854A>G NP_001395389.1:p.Asp285Gly missense NM_001408461.1:c.854A>G NP_001395390.1:p.Asp285Gly missense NM_001408462.1:c.851A>G NP_001395391.1:p.Asp284Gly missense NM_001408463.1:c.851A>G NP_001395392.1:p.Asp284Gly missense NM_001408464.1:c.851A>G NP_001395393.1:p.Asp284Gly missense NM_001408465.1:c.851A>G NP_001395394.1:p.Asp284Gly missense NM_001408466.1:c.851A>G NP_001395395.1:p.Asp284Gly missense NM_001408467.1:c.851A>G NP_001395396.1:p.Asp284Gly missense NM_001408468.1:c.851A>G NP_001395397.1:p.Asp284Gly missense NM_001408469.1:c.851A>G NP_001395398.1:p.Asp284Gly missense NM_001408470.1:c.848A>G NP_001395399.1:p.Asp283Gly missense NM_001408472.1:c.992A>G NP_001395401.1:p.Asp331Gly missense NM_001408473.1:c.992A>G NP_001395402.1:p.Asp331Gly missense NM_001408474.1:c.794A>G NP_001395403.1:p.Asp265Gly missense NM_001408475.1:c.791A>G NP_001395404.1:p.Asp264Gly missense NM_001408476.1:c.794A>G NP_001395405.1:p.Asp265Gly missense NM_001408478.1:c.785A>G NP_001395407.1:p.Asp262Gly missense NM_001408479.1:c.785A>G NP_001395408.1:p.Asp262Gly missense NM_001408480.1:c.785A>G NP_001395409.1:p.Asp262Gly missense NM_001408481.1:c.785A>G NP_001395410.1:p.Asp262Gly missense NM_001408482.1:c.785A>G NP_001395411.1:p.Asp262Gly missense NM_001408483.1:c.785A>G NP_001395412.1:p.Asp262Gly missense NM_001408484.1:c.785A>G NP_001395413.1:p.Asp262Gly missense NM_001408485.1:c.785A>G NP_001395414.1:p.Asp262Gly missense NM_001408489.1:c.782A>G NP_001395418.1:p.Asp261Gly missense NM_001408490.1:c.782A>G NP_001395419.1:p.Asp261Gly missense NM_001408491.1:c.782A>G NP_001395420.1:p.Asp261Gly missense NM_001408492.1:c.782A>G NP_001395421.1:p.Asp261Gly missense NM_001408493.1:c.782A>G NP_001395422.1:p.Asp261Gly missense NM_001408494.1:c.755A>G NP_001395423.1:p.Asp252Gly missense NM_001408495.1:c.752A>G NP_001395424.1:p.Asp251Gly missense NM_001408496.1:c.731A>G NP_001395425.1:p.Asp244Gly missense NM_001408497.1:c.731A>G NP_001395426.1:p.Asp244Gly missense NM_001408498.1:c.731A>G NP_001395427.1:p.Asp244Gly missense NM_001408499.1:c.731A>G NP_001395428.1:p.Asp244Gly missense NM_001408500.1:c.731A>G NP_001395429.1:p.Asp244Gly missense NM_001408501.1:c.731A>G NP_001395430.1:p.Asp244Gly missense NM_001408502.1:c.662A>G NP_001395431.1:p.Asp221Gly missense NM_001408503.1:c.728A>G NP_001395432.1:p.Asp243Gly missense NM_001408504.1:c.728A>G NP_001395433.1:p.Asp243Gly missense NM_001408505.1:c.728A>G NP_001395434.1:p.Asp243Gly missense NM_001408506.1:c.668A>G NP_001395435.1:p.Asp223Gly missense NM_001408507.1:c.665A>G NP_001395436.1:p.Asp222Gly missense NM_001408508.1:c.656A>G NP_001395437.1:p.Asp219Gly missense NM_001408509.1:c.656A>G NP_001395438.1:p.Asp219Gly missense NM_001408510.1:c.614A>G NP_001395439.1:p.Asp205Gly missense NM_001408511.1:c.611A>G NP_001395440.1:p.Asp204Gly missense NM_001408512.1:c.491A>G NP_001395441.1:p.Asp164Gly missense NM_001408513.1:c.782A>G NP_001395442.1:p.Asp261Gly missense NM_001408514.1:c.785A>G NP_001395443.1:p.Asp262Gly missense NM_007297.4:c.4163A>G NP_009228.2:p.Asp1388Gly missense NM_007298.4:c.995A>G NP_009229.2:p.Asp332Gly missense NM_007299.4:c.995A>G NP_009230.2:p.Asp332Gly missense NM_007300.4:c.4304A>G NP_009231.2:p.Asp1435Gly missense NM_007304.2:c.995A>G NP_009235.2:p.Asp332Gly missense NR_027676.2:n.4481A>G non-coding transcript variant NC_000017.11:g.43082457T>C NC_000017.10:g.41234474T>C NG_005905.2:g.135527A>G LRG_292:g.135527A>G LRG_292t1:c.4304A>G LRG_292p1:p.Asp1435Gly - Protein change
- D1435G, D1388G, D332G, D1308G, D1323G, D1363G, D1364G, D1408G, D1433G, D164G, D221G, D252G, D261G, D287G, D306G, D1139G, D1367G, D1407G, D1434G, D204G, D222G, D244G, D251G, D264G, D284G, D290G, D292G, D305G, D330G, D567G, D1346G, D1347G, D1368G, D1386G, D1409G, D243G, D265G, D283G, D285G, D291G, D329G, D331G, D1266G, D1307G, D1322G, D1324G, D1345G, D1365G, D1387G, D1392G, D1393G, D1394G, D1431G, D205G, D219G, D223G, D262G, D293G, D566G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082456:T: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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
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 |
12894 | 14680 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Dec 29, 2021 | RCV000216918.4 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jul 4, 2019 | RCV000985414.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
May 22, 2023 | RCV000709471.10 | |
Uncertain significance (1) |
criteria provided, single submitter
|
May 28, 2019 | RCV000989886.2 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140529.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
Uncertain significance
(Jul 04, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133580.2
First in ClinVar: Jan 05, 2020 Last updated: Jan 01, 2022 |
|
|
Uncertain significance
(May 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000944280.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1435 of the BRCA1 protein … (more)
This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1435 of the BRCA1 protein (p.Asp1435Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 234039). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(Dec 29, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000278525.5
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The p.D1435G variant (also known as c.4304A>G), located in coding exon 11 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.D1435G variant (also known as c.4304A>G), located in coding exon 11 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4304. The aspartic acid at codon 1435 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs876660809 ...
HelpRecord last updated Jun 02, 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.