ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4248T>C (p.Ala1416=)
Germline
Classification
Help
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.
(1)
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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.
Likely benign
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4248T>C (p.Ala1416=)
Variation ID: 2008129 Accession: VCV002008129.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082513 (GRCh38) [ NCBI UCSC ] 17: 41234530 (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 Feb 8, 2023 Feb 20, 2024 Jun 18, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4248T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ala1416= synonymous NM_001407571.1:c.4035T>C NP_001394500.1:p.Ala1345= synonymous NM_001407581.1:c.4248T>C NP_001394510.1:p.Ala1416= synonymous NM_001407582.1:c.4248T>C NP_001394511.1:p.Ala1416= synonymous NM_001407583.1:c.4248T>C NP_001394512.1:p.Ala1416= synonymous NM_001407585.1:c.4248T>C NP_001394514.1:p.Ala1416= synonymous NM_001407587.1:c.4245T>C NP_001394516.1:p.Ala1415= synonymous NM_001407590.1:c.4245T>C NP_001394519.1:p.Ala1415= synonymous NM_001407591.1:c.4245T>C NP_001394520.1:p.Ala1415= synonymous NM_001407593.1:c.4248T>C NP_001394522.1:p.Ala1416= synonymous NM_001407594.1:c.4248T>C NP_001394523.1:p.Ala1416= synonymous NM_001407596.1:c.4248T>C NP_001394525.1:p.Ala1416= synonymous NM_001407597.1:c.4248T>C NP_001394526.1:p.Ala1416= synonymous NM_001407598.1:c.4248T>C NP_001394527.1:p.Ala1416= synonymous NM_001407602.1:c.4248T>C NP_001394531.1:p.Ala1416= synonymous NM_001407603.1:c.4248T>C NP_001394532.1:p.Ala1416= synonymous NM_001407605.1:c.4248T>C NP_001394534.1:p.Ala1416= synonymous NM_001407610.1:c.4245T>C NP_001394539.1:p.Ala1415= synonymous NM_001407611.1:c.4245T>C NP_001394540.1:p.Ala1415= synonymous NM_001407612.1:c.4245T>C NP_001394541.1:p.Ala1415= synonymous NM_001407613.1:c.4245T>C NP_001394542.1:p.Ala1415= synonymous NM_001407614.1:c.4245T>C NP_001394543.1:p.Ala1415= synonymous NM_001407615.1:c.4245T>C NP_001394544.1:p.Ala1415= synonymous NM_001407616.1:c.4248T>C NP_001394545.1:p.Ala1416= synonymous NM_001407617.1:c.4248T>C NP_001394546.1:p.Ala1416= synonymous NM_001407618.1:c.4248T>C NP_001394547.1:p.Ala1416= synonymous NM_001407619.1:c.4248T>C NP_001394548.1:p.Ala1416= synonymous NM_001407620.1:c.4248T>C NP_001394549.1:p.Ala1416= synonymous NM_001407621.1:c.4248T>C NP_001394550.1:p.Ala1416= synonymous NM_001407622.1:c.4248T>C NP_001394551.1:p.Ala1416= synonymous NM_001407623.1:c.4248T>C NP_001394552.1:p.Ala1416= synonymous NM_001407624.1:c.4245T>C NP_001394553.1:p.Ala1415= synonymous NM_001407625.1:c.4245T>C NP_001394554.1:p.Ala1415= synonymous NM_001407626.1:c.4245T>C NP_001394555.1:p.Ala1415= synonymous NM_001407627.1:c.4242T>C NP_001394556.1:p.Ala1414= synonymous NM_001407628.1:c.4242T>C NP_001394557.1:p.Ala1414= synonymous NM_001407629.1:c.4242T>C NP_001394558.1:p.Ala1414= synonymous NM_001407630.1:c.4242T>C NP_001394559.1:p.Ala1414= synonymous NM_001407631.1:c.4242T>C NP_001394560.1:p.Ala1414= synonymous NM_001407632.1:c.4242T>C NP_001394561.1:p.Ala1414= synonymous NM_001407633.1:c.4245T>C NP_001394562.1:p.Ala1415= synonymous NM_001407634.1:c.4245T>C NP_001394563.1:p.Ala1415= synonymous NM_001407635.1:c.4245T>C NP_001394564.1:p.Ala1415= synonymous NM_001407636.1:c.4245T>C NP_001394565.1:p.Ala1415= synonymous NM_001407637.1:c.4245T>C NP_001394566.1:p.Ala1415= synonymous NM_001407638.1:c.4245T>C NP_001394567.1:p.Ala1415= synonymous NM_001407639.1:c.4245T>C NP_001394568.1:p.Ala1415= synonymous NM_001407640.1:c.4245T>C NP_001394569.1:p.Ala1415= synonymous NM_001407641.1:c.4245T>C NP_001394570.1:p.Ala1415= synonymous NM_001407642.1:c.4245T>C NP_001394571.1:p.Ala1415= synonymous NM_001407644.1:c.4242T>C NP_001394573.1:p.Ala1414= synonymous NM_001407645.1:c.4242T>C NP_001394574.1:p.Ala1414= synonymous NM_001407646.1:c.4236T>C NP_001394575.1:p.Ala1412= synonymous NM_001407647.1:c.4236T>C NP_001394576.1:p.Ala1412= synonymous NM_001407648.1:c.4125T>C NP_001394577.1:p.Ala1375= synonymous NM_001407649.1:c.4122T>C NP_001394578.1:p.Ala1374= synonymous NM_001407652.1:c.4248T>C NP_001394581.1:p.Ala1416= synonymous NM_001407653.1:c.4170T>C NP_001394582.1:p.Ala1390= synonymous NM_001407654.1:c.4170T>C NP_001394583.1:p.Ala1390= synonymous NM_001407655.1:c.4170T>C NP_001394584.1:p.Ala1390= synonymous NM_001407656.1:c.4167T>C NP_001394585.1:p.Ala1389= synonymous NM_001407657.1:c.4170T>C NP_001394586.1:p.Ala1390= synonymous NM_001407658.1:c.4170T>C NP_001394587.1:p.Ala1390= synonymous NM_001407659.1:c.4164T>C NP_001394588.1:p.Ala1388= synonymous NM_001407660.1:c.4164T>C NP_001394589.1:p.Ala1388= synonymous NM_001407661.1:c.4167T>C NP_001394590.1:p.Ala1389= synonymous NM_001407662.1:c.4167T>C NP_001394591.1:p.Ala1389= synonymous NM_001407663.1:c.4167T>C NP_001394592.1:p.Ala1389= synonymous NM_001407664.1:c.4125T>C NP_001394593.1:p.Ala1375= synonymous NM_001407665.1:c.4125T>C NP_001394594.1:p.Ala1375= synonymous NM_001407666.1:c.4125T>C NP_001394595.1:p.Ala1375= synonymous NM_001407667.1:c.4125T>C NP_001394596.1:p.Ala1375= synonymous NM_001407668.1:c.4125T>C NP_001394597.1:p.Ala1375= synonymous NM_001407669.1:c.4125T>C NP_001394598.1:p.Ala1375= synonymous NM_001407670.1:c.4122T>C NP_001394599.1:p.Ala1374= synonymous NM_001407671.1:c.4122T>C NP_001394600.1:p.Ala1374= synonymous NM_001407672.1:c.4122T>C NP_001394601.1:p.Ala1374= synonymous NM_001407673.1:c.4122T>C NP_001394602.1:p.Ala1374= synonymous NM_001407674.1:c.4122T>C NP_001394603.1:p.Ala1374= synonymous NM_001407675.1:c.4122T>C NP_001394604.1:p.Ala1374= synonymous NM_001407676.1:c.4122T>C NP_001394605.1:p.Ala1374= synonymous NM_001407677.1:c.4125T>C NP_001394606.1:p.Ala1375= synonymous NM_001407678.1:c.4125T>C NP_001394607.1:p.Ala1375= synonymous NM_001407679.1:c.4125T>C NP_001394608.1:p.Ala1375= synonymous NM_001407680.1:c.4125T>C NP_001394609.1:p.Ala1375= synonymous NM_001407681.1:c.4122T>C NP_001394610.1:p.Ala1374= synonymous NM_001407682.1:c.4122T>C NP_001394611.1:p.Ala1374= synonymous NM_001407683.1:c.4122T>C NP_001394612.1:p.Ala1374= synonymous NM_001407684.1:c.4248T>C NP_001394613.1:p.Ala1416= synonymous NM_001407685.1:c.4119T>C NP_001394614.1:p.Ala1373= synonymous NM_001407686.1:c.4119T>C NP_001394615.1:p.Ala1373= synonymous NM_001407687.1:c.4119T>C NP_001394616.1:p.Ala1373= synonymous NM_001407688.1:c.4122T>C NP_001394617.1:p.Ala1374= synonymous NM_001407689.1:c.4122T>C NP_001394618.1:p.Ala1374= synonymous NM_001407690.1:c.4119T>C NP_001394619.1:p.Ala1373= synonymous NM_001407691.1:c.4119T>C NP_001394620.1:p.Ala1373= synonymous NM_001407692.1:c.4107T>C NP_001394621.1:p.Ala1369= synonymous NM_001407694.1:c.4107T>C NP_001394623.1:p.Ala1369= synonymous NM_001407695.1:c.4107T>C NP_001394624.1:p.Ala1369= synonymous NM_001407696.1:c.4107T>C NP_001394625.1:p.Ala1369= synonymous NM_001407697.1:c.4107T>C NP_001394626.1:p.Ala1369= synonymous NM_001407698.1:c.4107T>C NP_001394627.1:p.Ala1369= synonymous NM_001407724.1:c.4107T>C NP_001394653.1:p.Ala1369= synonymous NM_001407725.1:c.4107T>C NP_001394654.1:p.Ala1369= synonymous NM_001407726.1:c.4107T>C NP_001394655.1:p.Ala1369= synonymous NM_001407727.1:c.4107T>C NP_001394656.1:p.Ala1369= synonymous NM_001407728.1:c.4107T>C NP_001394657.1:p.Ala1369= synonymous NM_001407729.1:c.4107T>C NP_001394658.1:p.Ala1369= synonymous NM_001407730.1:c.4107T>C NP_001394659.1:p.Ala1369= synonymous NM_001407731.1:c.4107T>C NP_001394660.1:p.Ala1369= synonymous NM_001407732.1:c.4107T>C NP_001394661.1:p.Ala1369= synonymous NM_001407733.1:c.4107T>C NP_001394662.1:p.Ala1369= synonymous NM_001407734.1:c.4107T>C NP_001394663.1:p.Ala1369= synonymous NM_001407735.1:c.4107T>C NP_001394664.1:p.Ala1369= synonymous NM_001407736.1:c.4107T>C NP_001394665.1:p.Ala1369= synonymous NM_001407737.1:c.4107T>C NP_001394666.1:p.Ala1369= synonymous NM_001407738.1:c.4107T>C NP_001394667.1:p.Ala1369= synonymous NM_001407739.1:c.4107T>C NP_001394668.1:p.Ala1369= synonymous NM_001407740.1:c.4104T>C NP_001394669.1:p.Ala1368= synonymous NM_001407741.1:c.4104T>C NP_001394670.1:p.Ala1368= synonymous NM_001407742.1:c.4104T>C NP_001394671.1:p.Ala1368= synonymous NM_001407743.1:c.4104T>C NP_001394672.1:p.Ala1368= synonymous NM_001407744.1:c.4104T>C NP_001394673.1:p.Ala1368= synonymous NM_001407745.1:c.4104T>C NP_001394674.1:p.Ala1368= synonymous NM_001407746.1:c.4104T>C NP_001394675.1:p.Ala1368= synonymous NM_001407747.1:c.4104T>C NP_001394676.1:p.Ala1368= synonymous NM_001407748.1:c.4104T>C NP_001394677.1:p.Ala1368= synonymous NM_001407749.1:c.4104T>C NP_001394678.1:p.Ala1368= synonymous NM_001407750.1:c.4104T>C NP_001394679.1:p.Ala1368= synonymous NM_001407751.1:c.4104T>C NP_001394680.1:p.Ala1368= synonymous NM_001407752.1:c.4104T>C NP_001394681.1:p.Ala1368= synonymous NM_001407838.1:c.4104T>C NP_001394767.1:p.Ala1368= synonymous NM_001407839.1:c.4104T>C NP_001394768.1:p.Ala1368= synonymous NM_001407841.1:c.4104T>C NP_001394770.1:p.Ala1368= synonymous NM_001407842.1:c.4104T>C NP_001394771.1:p.Ala1368= synonymous NM_001407843.1:c.4104T>C NP_001394772.1:p.Ala1368= synonymous NM_001407844.1:c.4104T>C NP_001394773.1:p.Ala1368= synonymous NM_001407845.1:c.4104T>C NP_001394774.1:p.Ala1368= synonymous NM_001407846.1:c.4104T>C NP_001394775.1:p.Ala1368= synonymous NM_001407847.1:c.4101T>C NP_001394776.1:p.Ala1367= synonymous NM_001407848.1:c.4101T>C NP_001394777.1:p.Ala1367= synonymous NM_001407849.1:c.4101T>C NP_001394778.1:p.Ala1367= synonymous NM_001407850.1:c.4104T>C NP_001394779.1:p.Ala1368= synonymous NM_001407851.1:c.4104T>C NP_001394780.1:p.Ala1368= synonymous NM_001407852.1:c.4104T>C NP_001394781.1:p.Ala1368= synonymous NM_001407853.1:c.4035T>C NP_001394782.1:p.Ala1345= synonymous NM_001407854.1:c.4248T>C NP_001394783.1:p.Ala1416= synonymous NM_001407858.1:c.4248T>C NP_001394787.1:p.Ala1416= synonymous NM_001407859.1:c.4248T>C NP_001394788.1:p.Ala1416= synonymous NM_001407860.1:c.4245T>C NP_001394789.1:p.Ala1415= synonymous NM_001407861.1:c.4245T>C NP_001394790.1:p.Ala1415= synonymous NM_001407862.1:c.4047T>C NP_001394791.1:p.Ala1349= synonymous NM_001407863.1:c.4125T>C NP_001394792.1:p.Ala1375= synonymous NM_001407874.1:c.4044T>C NP_001394803.1:p.Ala1348= synonymous NM_001407875.1:c.4044T>C NP_001394804.1:p.Ala1348= synonymous NM_001407879.1:c.4038T>C NP_001394808.1:p.Ala1346= synonymous NM_001407881.1:c.4038T>C NP_001394810.1:p.Ala1346= synonymous NM_001407882.1:c.4038T>C NP_001394811.1:p.Ala1346= synonymous NM_001407884.1:c.4038T>C NP_001394813.1:p.Ala1346= synonymous NM_001407885.1:c.4038T>C NP_001394814.1:p.Ala1346= synonymous NM_001407886.1:c.4038T>C NP_001394815.1:p.Ala1346= synonymous NM_001407887.1:c.4038T>C NP_001394816.1:p.Ala1346= synonymous NM_001407889.1:c.4038T>C NP_001394818.1:p.Ala1346= synonymous NM_001407894.1:c.4035T>C NP_001394823.1:p.Ala1345= synonymous NM_001407895.1:c.4035T>C NP_001394824.1:p.Ala1345= synonymous NM_001407896.1:c.4035T>C NP_001394825.1:p.Ala1345= synonymous NM_001407897.1:c.4035T>C NP_001394826.1:p.Ala1345= synonymous NM_001407898.1:c.4035T>C NP_001394827.1:p.Ala1345= synonymous NM_001407899.1:c.4035T>C NP_001394828.1:p.Ala1345= synonymous NM_001407900.1:c.4038T>C NP_001394829.1:p.Ala1346= synonymous NM_001407902.1:c.4038T>C NP_001394831.1:p.Ala1346= synonymous NM_001407904.1:c.4038T>C NP_001394833.1:p.Ala1346= synonymous NM_001407906.1:c.4038T>C NP_001394835.1:p.Ala1346= synonymous NM_001407907.1:c.4035T>C NP_001394836.1:p.Ala1345= synonymous NM_001407908.1:c.4035T>C NP_001394837.1:p.Ala1345= synonymous NM_001407909.1:c.4035T>C NP_001394838.1:p.Ala1345= synonymous NM_001407910.1:c.4035T>C NP_001394839.1:p.Ala1345= synonymous NM_001407915.1:c.4032T>C NP_001394844.1:p.Ala1344= synonymous NM_001407916.1:c.4035T>C NP_001394845.1:p.Ala1345= synonymous NM_001407917.1:c.4035T>C NP_001394846.1:p.Ala1345= synonymous NM_001407918.1:c.4035T>C NP_001394847.1:p.Ala1345= synonymous NM_001407919.1:c.4125T>C NP_001394848.1:p.Ala1375= synonymous NM_001407920.1:c.3984T>C NP_001394849.1:p.Ala1328= synonymous NM_001407921.1:c.3984T>C NP_001394850.1:p.Ala1328= synonymous NM_001407922.1:c.3984T>C NP_001394851.1:p.Ala1328= synonymous NM_001407923.1:c.3984T>C NP_001394852.1:p.Ala1328= synonymous NM_001407924.1:c.3984T>C NP_001394853.1:p.Ala1328= synonymous NM_001407925.1:c.3984T>C NP_001394854.1:p.Ala1328= synonymous NM_001407926.1:c.3984T>C NP_001394855.1:p.Ala1328= synonymous NM_001407927.1:c.3984T>C NP_001394856.1:p.Ala1328= synonymous NM_001407928.1:c.3984T>C NP_001394857.1:p.Ala1328= synonymous NM_001407929.1:c.3984T>C NP_001394858.1:p.Ala1328= synonymous NM_001407930.1:c.3981T>C NP_001394859.1:p.Ala1327= synonymous NM_001407931.1:c.3981T>C NP_001394860.1:p.Ala1327= synonymous NM_001407932.1:c.3981T>C NP_001394861.1:p.Ala1327= synonymous NM_001407933.1:c.3981T>C NP_001394862.1:p.Ala1327= synonymous NM_001407934.1:c.3978T>C NP_001394863.1:p.Ala1326= synonymous NM_001407935.1:c.3981T>C NP_001394864.1:p.Ala1327= synonymous NM_001407936.1:c.3981T>C NP_001394865.1:p.Ala1327= synonymous NM_001407937.1:c.4125T>C NP_001394866.1:p.Ala1375= synonymous NM_001407938.1:c.4125T>C NP_001394867.1:p.Ala1375= synonymous NM_001407939.1:c.4125T>C NP_001394868.1:p.Ala1375= synonymous NM_001407940.1:c.4122T>C NP_001394869.1:p.Ala1374= synonymous NM_001407941.1:c.4122T>C NP_001394870.1:p.Ala1374= synonymous NM_001407942.1:c.4107T>C NP_001394871.1:p.Ala1369= synonymous NM_001407943.1:c.4104T>C NP_001394872.1:p.Ala1368= synonymous NM_001407944.1:c.4107T>C NP_001394873.1:p.Ala1369= synonymous NM_001407945.1:c.4107T>C NP_001394874.1:p.Ala1369= synonymous NM_001407946.1:c.3915T>C NP_001394875.1:p.Ala1305= synonymous NM_001407947.1:c.3915T>C NP_001394876.1:p.Ala1305= synonymous NM_001407948.1:c.3915T>C NP_001394877.1:p.Ala1305= synonymous NM_001407949.1:c.3915T>C NP_001394878.1:p.Ala1305= synonymous NM_001407950.1:c.3915T>C NP_001394879.1:p.Ala1305= synonymous NM_001407951.1:c.3915T>C NP_001394880.1:p.Ala1305= synonymous NM_001407952.1:c.3912T>C NP_001394881.1:p.Ala1304= synonymous NM_001407953.1:c.3912T>C NP_001394882.1:p.Ala1304= synonymous NM_001407954.1:c.3912T>C NP_001394883.1:p.Ala1304= synonymous NM_001407955.1:c.3912T>C NP_001394884.1:p.Ala1304= synonymous NM_001407956.1:c.3909T>C NP_001394885.1:p.Ala1303= synonymous NM_001407957.1:c.3912T>C NP_001394886.1:p.Ala1304= synonymous NM_001407958.1:c.3912T>C NP_001394887.1:p.Ala1304= synonymous NM_001407959.1:c.3867T>C NP_001394888.1:p.Ala1289= synonymous NM_001407960.1:c.3867T>C NP_001394889.1:p.Ala1289= synonymous NM_001407962.1:c.3864T>C NP_001394891.1:p.Ala1288= synonymous NM_001407963.1:c.3864T>C NP_001394892.1:p.Ala1288= synonymous NM_001407964.1:c.4104T>C NP_001394893.1:p.Ala1368= synonymous NM_001407965.1:c.3741T>C NP_001394894.1:p.Ala1247= synonymous NM_001407966.1:c.3360T>C NP_001394895.1:p.Ala1120= synonymous NM_001407967.1:c.3360T>C NP_001394896.1:p.Ala1120= synonymous NM_001407968.1:c.1644T>C NP_001394897.1:p.Ala548= synonymous NM_001407969.1:c.1641T>C NP_001394898.1:p.Ala547= synonymous NM_001407970.1:c.939T>C NP_001394899.1:p.Ala313= synonymous NM_001407971.1:c.939T>C NP_001394900.1:p.Ala313= synonymous NM_001407972.1:c.936T>C NP_001394901.1:p.Ala312= synonymous NM_001407973.1:c.939T>C NP_001394902.1:p.Ala313= synonymous NM_001407974.1:c.939T>C NP_001394903.1:p.Ala313= synonymous NM_001407975.1:c.939T>C NP_001394904.1:p.Ala313= synonymous NM_001407976.1:c.939T>C NP_001394905.1:p.Ala313= synonymous NM_001407977.1:c.939T>C NP_001394906.1:p.Ala313= synonymous NM_001407978.1:c.939T>C NP_001394907.1:p.Ala313= synonymous NM_001407979.1:c.936T>C NP_001394908.1:p.Ala312= synonymous NM_001407980.1:c.936T>C NP_001394909.1:p.Ala312= synonymous NM_001407981.1:c.936T>C NP_001394910.1:p.Ala312= synonymous NM_001407982.1:c.936T>C NP_001394911.1:p.Ala312= synonymous NM_001407983.1:c.936T>C NP_001394912.1:p.Ala312= synonymous NM_001407984.1:c.936T>C NP_001394913.1:p.Ala312= synonymous NM_001407985.1:c.936T>C NP_001394914.1:p.Ala312= synonymous NM_001407986.1:c.936T>C NP_001394915.1:p.Ala312= synonymous NM_001407990.1:c.936T>C NP_001394919.1:p.Ala312= synonymous NM_001407991.1:c.936T>C NP_001394920.1:p.Ala312= synonymous NM_001407992.1:c.936T>C NP_001394921.1:p.Ala312= synonymous NM_001407993.1:c.939T>C NP_001394922.1:p.Ala313= synonymous NM_001408392.1:c.936T>C NP_001395321.1:p.Ala312= synonymous NM_001408396.1:c.936T>C NP_001395325.1:p.Ala312= synonymous NM_001408397.1:c.936T>C NP_001395326.1:p.Ala312= synonymous NM_001408398.1:c.936T>C NP_001395327.1:p.Ala312= synonymous NM_001408399.1:c.936T>C NP_001395328.1:p.Ala312= synonymous NM_001408400.1:c.933T>C NP_001395329.1:p.Ala311= synonymous NM_001408401.1:c.933T>C NP_001395330.1:p.Ala311= synonymous NM_001408402.1:c.933T>C NP_001395331.1:p.Ala311= synonymous NM_001408403.1:c.936T>C NP_001395332.1:p.Ala312= synonymous NM_001408404.1:c.936T>C NP_001395333.1:p.Ala312= synonymous NM_001408406.1:c.930T>C NP_001395335.1:p.Ala310= synonymous NM_001408407.1:c.933T>C NP_001395336.1:p.Ala311= synonymous NM_001408408.1:c.930T>C NP_001395337.1:p.Ala310= synonymous NM_001408409.1:c.861T>C NP_001395338.1:p.Ala287= synonymous NM_001408410.1:c.798T>C NP_001395339.1:p.Ala266= synonymous NM_001408411.1:c.861T>C NP_001395340.1:p.Ala287= synonymous NM_001408412.1:c.861T>C NP_001395341.1:p.Ala287= synonymous NM_001408413.1:c.858T>C NP_001395342.1:p.Ala286= synonymous NM_001408414.1:c.861T>C NP_001395343.1:p.Ala287= synonymous NM_001408415.1:c.861T>C NP_001395344.1:p.Ala287= synonymous NM_001408416.1:c.858T>C NP_001395345.1:p.Ala286= synonymous NM_001408418.1:c.822T>C NP_001395347.1:p.Ala274= synonymous NM_001408419.1:c.822T>C NP_001395348.1:p.Ala274= synonymous NM_001408420.1:c.822T>C NP_001395349.1:p.Ala274= synonymous NM_001408421.1:c.819T>C NP_001395350.1:p.Ala273= synonymous NM_001408422.1:c.822T>C NP_001395351.1:p.Ala274= synonymous NM_001408423.1:c.822T>C NP_001395352.1:p.Ala274= synonymous NM_001408424.1:c.819T>C NP_001395353.1:p.Ala273= synonymous NM_001408425.1:c.816T>C NP_001395354.1:p.Ala272= synonymous NM_001408426.1:c.816T>C NP_001395355.1:p.Ala272= synonymous NM_001408427.1:c.816T>C NP_001395356.1:p.Ala272= synonymous NM_001408428.1:c.816T>C NP_001395357.1:p.Ala272= synonymous NM_001408429.1:c.816T>C NP_001395358.1:p.Ala272= synonymous NM_001408430.1:c.816T>C NP_001395359.1:p.Ala272= synonymous NM_001408431.1:c.819T>C NP_001395360.1:p.Ala273= synonymous NM_001408432.1:c.813T>C NP_001395361.1:p.Ala271= synonymous NM_001408433.1:c.813T>C NP_001395362.1:p.Ala271= synonymous NM_001408434.1:c.813T>C NP_001395363.1:p.Ala271= synonymous NM_001408435.1:c.813T>C NP_001395364.1:p.Ala271= synonymous NM_001408436.1:c.816T>C NP_001395365.1:p.Ala272= synonymous NM_001408437.1:c.816T>C NP_001395366.1:p.Ala272= synonymous NM_001408438.1:c.816T>C NP_001395367.1:p.Ala272= synonymous NM_001408439.1:c.816T>C NP_001395368.1:p.Ala272= synonymous NM_001408440.1:c.816T>C NP_001395369.1:p.Ala272= synonymous NM_001408441.1:c.813T>C NP_001395370.1:p.Ala271= synonymous NM_001408442.1:c.813T>C NP_001395371.1:p.Ala271= synonymous NM_001408443.1:c.813T>C NP_001395372.1:p.Ala271= synonymous NM_001408444.1:c.813T>C NP_001395373.1:p.Ala271= synonymous NM_001408445.1:c.813T>C NP_001395374.1:p.Ala271= synonymous NM_001408446.1:c.813T>C NP_001395375.1:p.Ala271= synonymous NM_001408447.1:c.813T>C NP_001395376.1:p.Ala271= synonymous NM_001408448.1:c.813T>C NP_001395377.1:p.Ala271= synonymous NM_001408450.1:c.813T>C NP_001395379.1:p.Ala271= synonymous NM_001408451.1:c.804T>C NP_001395380.1:p.Ala268= synonymous NM_001408452.1:c.798T>C NP_001395381.1:p.Ala266= synonymous NM_001408453.1:c.798T>C NP_001395382.1:p.Ala266= synonymous NM_001408454.1:c.798T>C NP_001395383.1:p.Ala266= synonymous NM_001408455.1:c.798T>C NP_001395384.1:p.Ala266= synonymous NM_001408456.1:c.798T>C NP_001395385.1:p.Ala266= synonymous NM_001408457.1:c.798T>C NP_001395386.1:p.Ala266= synonymous NM_001408458.1:c.798T>C NP_001395387.1:p.Ala266= synonymous NM_001408459.1:c.798T>C NP_001395388.1:p.Ala266= synonymous NM_001408460.1:c.798T>C NP_001395389.1:p.Ala266= synonymous NM_001408461.1:c.798T>C NP_001395390.1:p.Ala266= synonymous NM_001408462.1:c.795T>C NP_001395391.1:p.Ala265= synonymous NM_001408463.1:c.795T>C NP_001395392.1:p.Ala265= synonymous NM_001408464.1:c.795T>C NP_001395393.1:p.Ala265= synonymous NM_001408465.1:c.795T>C NP_001395394.1:p.Ala265= synonymous NM_001408466.1:c.795T>C NP_001395395.1:p.Ala265= synonymous NM_001408467.1:c.795T>C NP_001395396.1:p.Ala265= synonymous NM_001408468.1:c.795T>C NP_001395397.1:p.Ala265= synonymous NM_001408469.1:c.795T>C NP_001395398.1:p.Ala265= synonymous NM_001408470.1:c.792T>C NP_001395399.1:p.Ala264= synonymous NM_001408472.1:c.936T>C NP_001395401.1:p.Ala312= synonymous NM_001408473.1:c.936T>C NP_001395402.1:p.Ala312= synonymous NM_001408474.1:c.738T>C NP_001395403.1:p.Ala246= synonymous NM_001408475.1:c.735T>C NP_001395404.1:p.Ala245= synonymous NM_001408476.1:c.738T>C NP_001395405.1:p.Ala246= synonymous NM_001408478.1:c.729T>C NP_001395407.1:p.Ala243= synonymous NM_001408479.1:c.729T>C NP_001395408.1:p.Ala243= synonymous NM_001408480.1:c.729T>C NP_001395409.1:p.Ala243= synonymous NM_001408481.1:c.729T>C NP_001395410.1:p.Ala243= synonymous NM_001408482.1:c.729T>C NP_001395411.1:p.Ala243= synonymous NM_001408483.1:c.729T>C NP_001395412.1:p.Ala243= synonymous NM_001408484.1:c.729T>C NP_001395413.1:p.Ala243= synonymous NM_001408485.1:c.729T>C NP_001395414.1:p.Ala243= synonymous NM_001408489.1:c.726T>C NP_001395418.1:p.Ala242= synonymous NM_001408490.1:c.726T>C NP_001395419.1:p.Ala242= synonymous NM_001408491.1:c.726T>C NP_001395420.1:p.Ala242= synonymous NM_001408492.1:c.726T>C NP_001395421.1:p.Ala242= synonymous NM_001408493.1:c.726T>C NP_001395422.1:p.Ala242= synonymous NM_001408494.1:c.699T>C NP_001395423.1:p.Ala233= synonymous NM_001408495.1:c.696T>C NP_001395424.1:p.Ala232= synonymous NM_001408496.1:c.675T>C NP_001395425.1:p.Ala225= synonymous NM_001408497.1:c.675T>C NP_001395426.1:p.Ala225= synonymous NM_001408498.1:c.675T>C NP_001395427.1:p.Ala225= synonymous NM_001408499.1:c.675T>C NP_001395428.1:p.Ala225= synonymous NM_001408500.1:c.675T>C NP_001395429.1:p.Ala225= synonymous NM_001408501.1:c.675T>C NP_001395430.1:p.Ala225= synonymous NM_001408502.1:c.606T>C NP_001395431.1:p.Ala202= synonymous NM_001408503.1:c.672T>C NP_001395432.1:p.Ala224= synonymous NM_001408504.1:c.672T>C NP_001395433.1:p.Ala224= synonymous NM_001408505.1:c.672T>C NP_001395434.1:p.Ala224= synonymous NM_001408506.1:c.612T>C NP_001395435.1:p.Ala204= synonymous NM_001408507.1:c.609T>C NP_001395436.1:p.Ala203= synonymous NM_001408508.1:c.600T>C NP_001395437.1:p.Ala200= synonymous NM_001408509.1:c.600T>C NP_001395438.1:p.Ala200= synonymous NM_001408510.1:c.558T>C NP_001395439.1:p.Ala186= synonymous NM_001408511.1:c.555T>C NP_001395440.1:p.Ala185= synonymous NM_001408512.1:c.435T>C NP_001395441.1:p.Ala145= synonymous NM_001408513.1:c.726T>C NP_001395442.1:p.Ala242= synonymous NM_001408514.1:c.729T>C NP_001395443.1:p.Ala243= synonymous NM_007297.4:c.4107T>C NP_009228.2:p.Ala1369= synonymous NM_007298.4:c.939T>C NP_009229.2:p.Ala313= synonymous NM_007299.4:c.939T>C NP_009230.2:p.Ala313= synonymous NM_007300.4:c.4248T>C NP_009231.2:p.Ala1416= synonymous NM_007304.2:c.939T>C NP_009235.2:p.Ala313= synonymous NR_027676.2:n.4425T>C NC_000017.11:g.43082513A>G NC_000017.10:g.41234530A>G NG_005905.2:g.135471T>C LRG_292:g.135471T>C LRG_292t1:c.4248T>C LRG_292p1:p.Ala1416= - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082512:A:G
-
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.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| Likely benign (1) |
criteria provided, single submitter
|
Jun 18, 2022 | RCV002816502.3 |
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
(Jun 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV003214891.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
|
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
Help| There 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 this variant ...
HelpRecord last updated Sep 29, 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.