This missense variant replaces alanine with threonine at codon 1416 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373).A functional study has reported that this variant does not significantly impact BRCA1 function in a transcription activation assay (PMID: 28781887, 29884841, 30765603). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4246G>A (p.Ala1416Thr)
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.
(5)
Help
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.
Uncertain significance
5
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4246G>A (p.Ala1416Thr)
Variation ID: 491073 Accession: VCV000491073.17
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082515 (GRCh38) [ NCBI UCSC ] 17: 41234532 (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 19, 2018 Aug 11, 2024 May 27, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4246G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ala1416Thr missense NM_001407571.1:c.4033G>A NP_001394500.1:p.Ala1345Thr missense NM_001407581.1:c.4246G>A NP_001394510.1:p.Ala1416Thr missense NM_001407582.1:c.4246G>A NP_001394511.1:p.Ala1416Thr missense NM_001407583.1:c.4246G>A NP_001394512.1:p.Ala1416Thr missense NM_001407585.1:c.4246G>A NP_001394514.1:p.Ala1416Thr missense NM_001407587.1:c.4243G>A NP_001394516.1:p.Ala1415Thr missense NM_001407590.1:c.4243G>A NP_001394519.1:p.Ala1415Thr missense NM_001407591.1:c.4243G>A NP_001394520.1:p.Ala1415Thr missense NM_001407593.1:c.4246G>A NP_001394522.1:p.Ala1416Thr missense NM_001407594.1:c.4246G>A NP_001394523.1:p.Ala1416Thr missense NM_001407596.1:c.4246G>A NP_001394525.1:p.Ala1416Thr missense NM_001407597.1:c.4246G>A NP_001394526.1:p.Ala1416Thr missense NM_001407598.1:c.4246G>A NP_001394527.1:p.Ala1416Thr missense NM_001407602.1:c.4246G>A NP_001394531.1:p.Ala1416Thr missense NM_001407603.1:c.4246G>A NP_001394532.1:p.Ala1416Thr missense NM_001407605.1:c.4246G>A NP_001394534.1:p.Ala1416Thr missense NM_001407610.1:c.4243G>A NP_001394539.1:p.Ala1415Thr missense NM_001407611.1:c.4243G>A NP_001394540.1:p.Ala1415Thr missense NM_001407612.1:c.4243G>A NP_001394541.1:p.Ala1415Thr missense NM_001407613.1:c.4243G>A NP_001394542.1:p.Ala1415Thr missense NM_001407614.1:c.4243G>A NP_001394543.1:p.Ala1415Thr missense NM_001407615.1:c.4243G>A NP_001394544.1:p.Ala1415Thr missense NM_001407616.1:c.4246G>A NP_001394545.1:p.Ala1416Thr missense NM_001407617.1:c.4246G>A NP_001394546.1:p.Ala1416Thr missense NM_001407618.1:c.4246G>A NP_001394547.1:p.Ala1416Thr missense NM_001407619.1:c.4246G>A NP_001394548.1:p.Ala1416Thr missense NM_001407620.1:c.4246G>A NP_001394549.1:p.Ala1416Thr missense NM_001407621.1:c.4246G>A NP_001394550.1:p.Ala1416Thr missense NM_001407622.1:c.4246G>A NP_001394551.1:p.Ala1416Thr missense NM_001407623.1:c.4246G>A NP_001394552.1:p.Ala1416Thr missense NM_001407624.1:c.4243G>A NP_001394553.1:p.Ala1415Thr missense NM_001407625.1:c.4243G>A NP_001394554.1:p.Ala1415Thr missense NM_001407626.1:c.4243G>A NP_001394555.1:p.Ala1415Thr missense NM_001407627.1:c.4240G>A NP_001394556.1:p.Ala1414Thr missense NM_001407628.1:c.4240G>A NP_001394557.1:p.Ala1414Thr missense NM_001407629.1:c.4240G>A NP_001394558.1:p.Ala1414Thr missense NM_001407630.1:c.4240G>A NP_001394559.1:p.Ala1414Thr missense NM_001407631.1:c.4240G>A NP_001394560.1:p.Ala1414Thr missense NM_001407632.1:c.4240G>A NP_001394561.1:p.Ala1414Thr missense NM_001407633.1:c.4243G>A NP_001394562.1:p.Ala1415Thr missense NM_001407634.1:c.4243G>A NP_001394563.1:p.Ala1415Thr missense NM_001407635.1:c.4243G>A NP_001394564.1:p.Ala1415Thr missense NM_001407636.1:c.4243G>A NP_001394565.1:p.Ala1415Thr missense NM_001407637.1:c.4243G>A NP_001394566.1:p.Ala1415Thr missense NM_001407638.1:c.4243G>A NP_001394567.1:p.Ala1415Thr missense NM_001407639.1:c.4243G>A NP_001394568.1:p.Ala1415Thr missense NM_001407640.1:c.4243G>A NP_001394569.1:p.Ala1415Thr missense NM_001407641.1:c.4243G>A NP_001394570.1:p.Ala1415Thr missense NM_001407642.1:c.4243G>A NP_001394571.1:p.Ala1415Thr missense NM_001407644.1:c.4240G>A NP_001394573.1:p.Ala1414Thr missense NM_001407645.1:c.4240G>A NP_001394574.1:p.Ala1414Thr missense NM_001407646.1:c.4234G>A NP_001394575.1:p.Ala1412Thr missense NM_001407647.1:c.4234G>A NP_001394576.1:p.Ala1412Thr missense NM_001407648.1:c.4123G>A NP_001394577.1:p.Ala1375Thr missense NM_001407649.1:c.4120G>A NP_001394578.1:p.Ala1374Thr missense NM_001407652.1:c.4246G>A NP_001394581.1:p.Ala1416Thr missense NM_001407653.1:c.4168G>A NP_001394582.1:p.Ala1390Thr missense NM_001407654.1:c.4168G>A NP_001394583.1:p.Ala1390Thr missense NM_001407655.1:c.4168G>A NP_001394584.1:p.Ala1390Thr missense NM_001407656.1:c.4165G>A NP_001394585.1:p.Ala1389Thr missense NM_001407657.1:c.4168G>A NP_001394586.1:p.Ala1390Thr missense NM_001407658.1:c.4168G>A NP_001394587.1:p.Ala1390Thr missense NM_001407659.1:c.4162G>A NP_001394588.1:p.Ala1388Thr missense NM_001407660.1:c.4162G>A NP_001394589.1:p.Ala1388Thr missense NM_001407661.1:c.4165G>A NP_001394590.1:p.Ala1389Thr missense NM_001407662.1:c.4165G>A NP_001394591.1:p.Ala1389Thr missense NM_001407663.1:c.4165G>A NP_001394592.1:p.Ala1389Thr missense NM_001407664.1:c.4123G>A NP_001394593.1:p.Ala1375Thr missense NM_001407665.1:c.4123G>A NP_001394594.1:p.Ala1375Thr missense NM_001407666.1:c.4123G>A NP_001394595.1:p.Ala1375Thr missense NM_001407667.1:c.4123G>A NP_001394596.1:p.Ala1375Thr missense NM_001407668.1:c.4123G>A NP_001394597.1:p.Ala1375Thr missense NM_001407669.1:c.4123G>A NP_001394598.1:p.Ala1375Thr missense NM_001407670.1:c.4120G>A NP_001394599.1:p.Ala1374Thr missense NM_001407671.1:c.4120G>A NP_001394600.1:p.Ala1374Thr missense NM_001407672.1:c.4120G>A NP_001394601.1:p.Ala1374Thr missense NM_001407673.1:c.4120G>A NP_001394602.1:p.Ala1374Thr missense NM_001407674.1:c.4120G>A NP_001394603.1:p.Ala1374Thr missense NM_001407675.1:c.4120G>A NP_001394604.1:p.Ala1374Thr missense NM_001407676.1:c.4120G>A NP_001394605.1:p.Ala1374Thr missense NM_001407677.1:c.4123G>A NP_001394606.1:p.Ala1375Thr missense NM_001407678.1:c.4123G>A NP_001394607.1:p.Ala1375Thr missense NM_001407679.1:c.4123G>A NP_001394608.1:p.Ala1375Thr missense NM_001407680.1:c.4123G>A NP_001394609.1:p.Ala1375Thr missense NM_001407681.1:c.4120G>A NP_001394610.1:p.Ala1374Thr missense NM_001407682.1:c.4120G>A NP_001394611.1:p.Ala1374Thr missense NM_001407683.1:c.4120G>A NP_001394612.1:p.Ala1374Thr missense NM_001407684.1:c.4246G>A NP_001394613.1:p.Ala1416Thr missense NM_001407685.1:c.4117G>A NP_001394614.1:p.Ala1373Thr missense NM_001407686.1:c.4117G>A NP_001394615.1:p.Ala1373Thr missense NM_001407687.1:c.4117G>A NP_001394616.1:p.Ala1373Thr missense NM_001407688.1:c.4120G>A NP_001394617.1:p.Ala1374Thr missense NM_001407689.1:c.4120G>A NP_001394618.1:p.Ala1374Thr missense NM_001407690.1:c.4117G>A NP_001394619.1:p.Ala1373Thr missense NM_001407691.1:c.4117G>A NP_001394620.1:p.Ala1373Thr missense NM_001407692.1:c.4105G>A NP_001394621.1:p.Ala1369Thr missense NM_001407694.1:c.4105G>A NP_001394623.1:p.Ala1369Thr missense NM_001407695.1:c.4105G>A NP_001394624.1:p.Ala1369Thr missense NM_001407696.1:c.4105G>A NP_001394625.1:p.Ala1369Thr missense NM_001407697.1:c.4105G>A NP_001394626.1:p.Ala1369Thr missense NM_001407698.1:c.4105G>A NP_001394627.1:p.Ala1369Thr missense NM_001407724.1:c.4105G>A NP_001394653.1:p.Ala1369Thr missense NM_001407725.1:c.4105G>A NP_001394654.1:p.Ala1369Thr missense NM_001407726.1:c.4105G>A NP_001394655.1:p.Ala1369Thr missense NM_001407727.1:c.4105G>A NP_001394656.1:p.Ala1369Thr missense NM_001407728.1:c.4105G>A NP_001394657.1:p.Ala1369Thr missense NM_001407729.1:c.4105G>A NP_001394658.1:p.Ala1369Thr missense NM_001407730.1:c.4105G>A NP_001394659.1:p.Ala1369Thr missense NM_001407731.1:c.4105G>A NP_001394660.1:p.Ala1369Thr missense NM_001407732.1:c.4105G>A NP_001394661.1:p.Ala1369Thr missense NM_001407733.1:c.4105G>A NP_001394662.1:p.Ala1369Thr missense NM_001407734.1:c.4105G>A NP_001394663.1:p.Ala1369Thr missense NM_001407735.1:c.4105G>A NP_001394664.1:p.Ala1369Thr missense NM_001407736.1:c.4105G>A NP_001394665.1:p.Ala1369Thr missense NM_001407737.1:c.4105G>A NP_001394666.1:p.Ala1369Thr missense NM_001407738.1:c.4105G>A NP_001394667.1:p.Ala1369Thr missense NM_001407739.1:c.4105G>A NP_001394668.1:p.Ala1369Thr missense NM_001407740.1:c.4102G>A NP_001394669.1:p.Ala1368Thr missense NM_001407741.1:c.4102G>A NP_001394670.1:p.Ala1368Thr missense NM_001407742.1:c.4102G>A NP_001394671.1:p.Ala1368Thr missense NM_001407743.1:c.4102G>A NP_001394672.1:p.Ala1368Thr missense NM_001407744.1:c.4102G>A NP_001394673.1:p.Ala1368Thr missense NM_001407745.1:c.4102G>A NP_001394674.1:p.Ala1368Thr missense NM_001407746.1:c.4102G>A NP_001394675.1:p.Ala1368Thr missense NM_001407747.1:c.4102G>A NP_001394676.1:p.Ala1368Thr missense NM_001407748.1:c.4102G>A NP_001394677.1:p.Ala1368Thr missense NM_001407749.1:c.4102G>A NP_001394678.1:p.Ala1368Thr missense NM_001407750.1:c.4102G>A NP_001394679.1:p.Ala1368Thr missense NM_001407751.1:c.4102G>A NP_001394680.1:p.Ala1368Thr missense NM_001407752.1:c.4102G>A NP_001394681.1:p.Ala1368Thr missense NM_001407838.1:c.4102G>A NP_001394767.1:p.Ala1368Thr missense NM_001407839.1:c.4102G>A NP_001394768.1:p.Ala1368Thr missense NM_001407841.1:c.4102G>A NP_001394770.1:p.Ala1368Thr missense NM_001407842.1:c.4102G>A NP_001394771.1:p.Ala1368Thr missense NM_001407843.1:c.4102G>A NP_001394772.1:p.Ala1368Thr missense NM_001407844.1:c.4102G>A NP_001394773.1:p.Ala1368Thr missense NM_001407845.1:c.4102G>A NP_001394774.1:p.Ala1368Thr missense NM_001407846.1:c.4102G>A NP_001394775.1:p.Ala1368Thr missense NM_001407847.1:c.4099G>A NP_001394776.1:p.Ala1367Thr missense NM_001407848.1:c.4099G>A NP_001394777.1:p.Ala1367Thr missense NM_001407849.1:c.4099G>A NP_001394778.1:p.Ala1367Thr missense NM_001407850.1:c.4102G>A NP_001394779.1:p.Ala1368Thr missense NM_001407851.1:c.4102G>A NP_001394780.1:p.Ala1368Thr missense NM_001407852.1:c.4102G>A NP_001394781.1:p.Ala1368Thr missense NM_001407853.1:c.4033G>A NP_001394782.1:p.Ala1345Thr missense NM_001407854.1:c.4246G>A NP_001394783.1:p.Ala1416Thr missense NM_001407858.1:c.4246G>A NP_001394787.1:p.Ala1416Thr missense NM_001407859.1:c.4246G>A NP_001394788.1:p.Ala1416Thr missense NM_001407860.1:c.4243G>A NP_001394789.1:p.Ala1415Thr missense NM_001407861.1:c.4243G>A NP_001394790.1:p.Ala1415Thr missense NM_001407862.1:c.4045G>A NP_001394791.1:p.Ala1349Thr missense NM_001407863.1:c.4123G>A NP_001394792.1:p.Ala1375Thr missense NM_001407874.1:c.4042G>A NP_001394803.1:p.Ala1348Thr missense NM_001407875.1:c.4042G>A NP_001394804.1:p.Ala1348Thr missense NM_001407879.1:c.4036G>A NP_001394808.1:p.Ala1346Thr missense NM_001407881.1:c.4036G>A NP_001394810.1:p.Ala1346Thr missense NM_001407882.1:c.4036G>A NP_001394811.1:p.Ala1346Thr missense NM_001407884.1:c.4036G>A NP_001394813.1:p.Ala1346Thr missense NM_001407885.1:c.4036G>A NP_001394814.1:p.Ala1346Thr missense NM_001407886.1:c.4036G>A NP_001394815.1:p.Ala1346Thr missense NM_001407887.1:c.4036G>A NP_001394816.1:p.Ala1346Thr missense NM_001407889.1:c.4036G>A NP_001394818.1:p.Ala1346Thr missense NM_001407894.1:c.4033G>A NP_001394823.1:p.Ala1345Thr missense NM_001407895.1:c.4033G>A NP_001394824.1:p.Ala1345Thr missense NM_001407896.1:c.4033G>A NP_001394825.1:p.Ala1345Thr missense NM_001407897.1:c.4033G>A NP_001394826.1:p.Ala1345Thr missense NM_001407898.1:c.4033G>A NP_001394827.1:p.Ala1345Thr missense NM_001407899.1:c.4033G>A NP_001394828.1:p.Ala1345Thr missense NM_001407900.1:c.4036G>A NP_001394829.1:p.Ala1346Thr missense NM_001407902.1:c.4036G>A NP_001394831.1:p.Ala1346Thr missense NM_001407904.1:c.4036G>A NP_001394833.1:p.Ala1346Thr missense NM_001407906.1:c.4036G>A NP_001394835.1:p.Ala1346Thr missense NM_001407907.1:c.4033G>A NP_001394836.1:p.Ala1345Thr missense NM_001407908.1:c.4033G>A NP_001394837.1:p.Ala1345Thr missense NM_001407909.1:c.4033G>A NP_001394838.1:p.Ala1345Thr missense NM_001407910.1:c.4033G>A NP_001394839.1:p.Ala1345Thr missense NM_001407915.1:c.4030G>A NP_001394844.1:p.Ala1344Thr missense NM_001407916.1:c.4033G>A NP_001394845.1:p.Ala1345Thr missense NM_001407917.1:c.4033G>A NP_001394846.1:p.Ala1345Thr missense NM_001407918.1:c.4033G>A NP_001394847.1:p.Ala1345Thr missense NM_001407919.1:c.4123G>A NP_001394848.1:p.Ala1375Thr missense NM_001407920.1:c.3982G>A NP_001394849.1:p.Ala1328Thr missense NM_001407921.1:c.3982G>A NP_001394850.1:p.Ala1328Thr missense NM_001407922.1:c.3982G>A NP_001394851.1:p.Ala1328Thr missense NM_001407923.1:c.3982G>A NP_001394852.1:p.Ala1328Thr missense NM_001407924.1:c.3982G>A NP_001394853.1:p.Ala1328Thr missense NM_001407925.1:c.3982G>A NP_001394854.1:p.Ala1328Thr missense NM_001407926.1:c.3982G>A NP_001394855.1:p.Ala1328Thr missense NM_001407927.1:c.3982G>A NP_001394856.1:p.Ala1328Thr missense NM_001407928.1:c.3982G>A NP_001394857.1:p.Ala1328Thr missense NM_001407929.1:c.3982G>A NP_001394858.1:p.Ala1328Thr missense NM_001407930.1:c.3979G>A NP_001394859.1:p.Ala1327Thr missense NM_001407931.1:c.3979G>A NP_001394860.1:p.Ala1327Thr missense NM_001407932.1:c.3979G>A NP_001394861.1:p.Ala1327Thr missense NM_001407933.1:c.3979G>A NP_001394862.1:p.Ala1327Thr missense NM_001407934.1:c.3976G>A NP_001394863.1:p.Ala1326Thr missense NM_001407935.1:c.3979G>A NP_001394864.1:p.Ala1327Thr missense NM_001407936.1:c.3979G>A NP_001394865.1:p.Ala1327Thr missense NM_001407937.1:c.4123G>A NP_001394866.1:p.Ala1375Thr missense NM_001407938.1:c.4123G>A NP_001394867.1:p.Ala1375Thr missense NM_001407939.1:c.4123G>A NP_001394868.1:p.Ala1375Thr missense NM_001407940.1:c.4120G>A NP_001394869.1:p.Ala1374Thr missense NM_001407941.1:c.4120G>A NP_001394870.1:p.Ala1374Thr missense NM_001407942.1:c.4105G>A NP_001394871.1:p.Ala1369Thr missense NM_001407943.1:c.4102G>A NP_001394872.1:p.Ala1368Thr missense NM_001407944.1:c.4105G>A NP_001394873.1:p.Ala1369Thr missense NM_001407945.1:c.4105G>A NP_001394874.1:p.Ala1369Thr missense NM_001407946.1:c.3913G>A NP_001394875.1:p.Ala1305Thr missense NM_001407947.1:c.3913G>A NP_001394876.1:p.Ala1305Thr missense NM_001407948.1:c.3913G>A NP_001394877.1:p.Ala1305Thr missense NM_001407949.1:c.3913G>A NP_001394878.1:p.Ala1305Thr missense NM_001407950.1:c.3913G>A NP_001394879.1:p.Ala1305Thr missense NM_001407951.1:c.3913G>A NP_001394880.1:p.Ala1305Thr missense NM_001407952.1:c.3910G>A NP_001394881.1:p.Ala1304Thr missense NM_001407953.1:c.3910G>A NP_001394882.1:p.Ala1304Thr missense NM_001407954.1:c.3910G>A NP_001394883.1:p.Ala1304Thr missense NM_001407955.1:c.3910G>A NP_001394884.1:p.Ala1304Thr missense NM_001407956.1:c.3907G>A NP_001394885.1:p.Ala1303Thr missense NM_001407957.1:c.3910G>A NP_001394886.1:p.Ala1304Thr missense NM_001407958.1:c.3910G>A NP_001394887.1:p.Ala1304Thr missense NM_001407959.1:c.3865G>A NP_001394888.1:p.Ala1289Thr missense NM_001407960.1:c.3865G>A NP_001394889.1:p.Ala1289Thr missense NM_001407962.1:c.3862G>A NP_001394891.1:p.Ala1288Thr missense NM_001407963.1:c.3862G>A NP_001394892.1:p.Ala1288Thr missense NM_001407964.1:c.4102G>A NP_001394893.1:p.Ala1368Thr missense NM_001407965.1:c.3739G>A NP_001394894.1:p.Ala1247Thr missense NM_001407966.1:c.3358G>A NP_001394895.1:p.Ala1120Thr missense NM_001407967.1:c.3358G>A NP_001394896.1:p.Ala1120Thr missense NM_001407968.1:c.1642G>A NP_001394897.1:p.Ala548Thr missense NM_001407969.1:c.1639G>A NP_001394898.1:p.Ala547Thr missense NM_001407970.1:c.937G>A NP_001394899.1:p.Ala313Thr missense NM_001407971.1:c.937G>A NP_001394900.1:p.Ala313Thr missense NM_001407972.1:c.934G>A NP_001394901.1:p.Ala312Thr missense NM_001407973.1:c.937G>A NP_001394902.1:p.Ala313Thr missense NM_001407974.1:c.937G>A NP_001394903.1:p.Ala313Thr missense NM_001407975.1:c.937G>A NP_001394904.1:p.Ala313Thr missense NM_001407976.1:c.937G>A NP_001394905.1:p.Ala313Thr missense NM_001407977.1:c.937G>A NP_001394906.1:p.Ala313Thr missense NM_001407978.1:c.937G>A NP_001394907.1:p.Ala313Thr missense NM_001407979.1:c.934G>A NP_001394908.1:p.Ala312Thr missense NM_001407980.1:c.934G>A NP_001394909.1:p.Ala312Thr missense NM_001407981.1:c.934G>A NP_001394910.1:p.Ala312Thr missense NM_001407982.1:c.934G>A NP_001394911.1:p.Ala312Thr missense NM_001407983.1:c.934G>A NP_001394912.1:p.Ala312Thr missense NM_001407984.1:c.934G>A NP_001394913.1:p.Ala312Thr missense NM_001407985.1:c.934G>A NP_001394914.1:p.Ala312Thr missense NM_001407986.1:c.934G>A NP_001394915.1:p.Ala312Thr missense NM_001407990.1:c.934G>A NP_001394919.1:p.Ala312Thr missense NM_001407991.1:c.934G>A NP_001394920.1:p.Ala312Thr missense NM_001407992.1:c.934G>A NP_001394921.1:p.Ala312Thr missense NM_001407993.1:c.937G>A NP_001394922.1:p.Ala313Thr missense NM_001408392.1:c.934G>A NP_001395321.1:p.Ala312Thr missense NM_001408396.1:c.934G>A NP_001395325.1:p.Ala312Thr missense NM_001408397.1:c.934G>A NP_001395326.1:p.Ala312Thr missense NM_001408398.1:c.934G>A NP_001395327.1:p.Ala312Thr missense NM_001408399.1:c.934G>A NP_001395328.1:p.Ala312Thr missense NM_001408400.1:c.931G>A NP_001395329.1:p.Ala311Thr missense NM_001408401.1:c.931G>A NP_001395330.1:p.Ala311Thr missense NM_001408402.1:c.931G>A NP_001395331.1:p.Ala311Thr missense NM_001408403.1:c.934G>A NP_001395332.1:p.Ala312Thr missense NM_001408404.1:c.934G>A NP_001395333.1:p.Ala312Thr missense NM_001408406.1:c.928G>A NP_001395335.1:p.Ala310Thr missense NM_001408407.1:c.931G>A NP_001395336.1:p.Ala311Thr missense NM_001408408.1:c.928G>A NP_001395337.1:p.Ala310Thr missense NM_001408409.1:c.859G>A NP_001395338.1:p.Ala287Thr missense NM_001408410.1:c.796G>A NP_001395339.1:p.Ala266Thr missense NM_001408411.1:c.859G>A NP_001395340.1:p.Ala287Thr missense NM_001408412.1:c.859G>A NP_001395341.1:p.Ala287Thr missense NM_001408413.1:c.856G>A NP_001395342.1:p.Ala286Thr missense NM_001408414.1:c.859G>A NP_001395343.1:p.Ala287Thr missense NM_001408415.1:c.859G>A NP_001395344.1:p.Ala287Thr missense NM_001408416.1:c.856G>A NP_001395345.1:p.Ala286Thr missense NM_001408418.1:c.820G>A NP_001395347.1:p.Ala274Thr missense NM_001408419.1:c.820G>A NP_001395348.1:p.Ala274Thr missense NM_001408420.1:c.820G>A NP_001395349.1:p.Ala274Thr missense NM_001408421.1:c.817G>A NP_001395350.1:p.Ala273Thr missense NM_001408422.1:c.820G>A NP_001395351.1:p.Ala274Thr missense NM_001408423.1:c.820G>A NP_001395352.1:p.Ala274Thr missense NM_001408424.1:c.817G>A NP_001395353.1:p.Ala273Thr missense NM_001408425.1:c.814G>A NP_001395354.1:p.Ala272Thr missense NM_001408426.1:c.814G>A NP_001395355.1:p.Ala272Thr missense NM_001408427.1:c.814G>A NP_001395356.1:p.Ala272Thr missense NM_001408428.1:c.814G>A NP_001395357.1:p.Ala272Thr missense NM_001408429.1:c.814G>A NP_001395358.1:p.Ala272Thr missense NM_001408430.1:c.814G>A NP_001395359.1:p.Ala272Thr missense NM_001408431.1:c.817G>A NP_001395360.1:p.Ala273Thr missense NM_001408432.1:c.811G>A NP_001395361.1:p.Ala271Thr missense NM_001408433.1:c.811G>A NP_001395362.1:p.Ala271Thr missense NM_001408434.1:c.811G>A NP_001395363.1:p.Ala271Thr missense NM_001408435.1:c.811G>A NP_001395364.1:p.Ala271Thr missense NM_001408436.1:c.814G>A NP_001395365.1:p.Ala272Thr missense NM_001408437.1:c.814G>A NP_001395366.1:p.Ala272Thr missense NM_001408438.1:c.814G>A NP_001395367.1:p.Ala272Thr missense NM_001408439.1:c.814G>A NP_001395368.1:p.Ala272Thr missense NM_001408440.1:c.814G>A NP_001395369.1:p.Ala272Thr missense NM_001408441.1:c.811G>A NP_001395370.1:p.Ala271Thr missense NM_001408442.1:c.811G>A NP_001395371.1:p.Ala271Thr missense NM_001408443.1:c.811G>A NP_001395372.1:p.Ala271Thr missense NM_001408444.1:c.811G>A NP_001395373.1:p.Ala271Thr missense NM_001408445.1:c.811G>A NP_001395374.1:p.Ala271Thr missense NM_001408446.1:c.811G>A NP_001395375.1:p.Ala271Thr missense NM_001408447.1:c.811G>A NP_001395376.1:p.Ala271Thr missense NM_001408448.1:c.811G>A NP_001395377.1:p.Ala271Thr missense NM_001408450.1:c.811G>A NP_001395379.1:p.Ala271Thr missense NM_001408451.1:c.802G>A NP_001395380.1:p.Ala268Thr missense NM_001408452.1:c.796G>A NP_001395381.1:p.Ala266Thr missense NM_001408453.1:c.796G>A NP_001395382.1:p.Ala266Thr missense NM_001408454.1:c.796G>A NP_001395383.1:p.Ala266Thr missense NM_001408455.1:c.796G>A NP_001395384.1:p.Ala266Thr missense NM_001408456.1:c.796G>A NP_001395385.1:p.Ala266Thr missense NM_001408457.1:c.796G>A NP_001395386.1:p.Ala266Thr missense NM_001408458.1:c.796G>A NP_001395387.1:p.Ala266Thr missense NM_001408459.1:c.796G>A NP_001395388.1:p.Ala266Thr missense NM_001408460.1:c.796G>A NP_001395389.1:p.Ala266Thr missense NM_001408461.1:c.796G>A NP_001395390.1:p.Ala266Thr missense NM_001408462.1:c.793G>A NP_001395391.1:p.Ala265Thr missense NM_001408463.1:c.793G>A NP_001395392.1:p.Ala265Thr missense NM_001408464.1:c.793G>A NP_001395393.1:p.Ala265Thr missense NM_001408465.1:c.793G>A NP_001395394.1:p.Ala265Thr missense NM_001408466.1:c.793G>A NP_001395395.1:p.Ala265Thr missense NM_001408467.1:c.793G>A NP_001395396.1:p.Ala265Thr missense NM_001408468.1:c.793G>A NP_001395397.1:p.Ala265Thr missense NM_001408469.1:c.793G>A NP_001395398.1:p.Ala265Thr missense NM_001408470.1:c.790G>A NP_001395399.1:p.Ala264Thr missense NM_001408472.1:c.934G>A NP_001395401.1:p.Ala312Thr missense NM_001408473.1:c.934G>A NP_001395402.1:p.Ala312Thr missense NM_001408474.1:c.736G>A NP_001395403.1:p.Ala246Thr missense NM_001408475.1:c.733G>A NP_001395404.1:p.Ala245Thr missense NM_001408476.1:c.736G>A NP_001395405.1:p.Ala246Thr missense NM_001408478.1:c.727G>A NP_001395407.1:p.Ala243Thr missense NM_001408479.1:c.727G>A NP_001395408.1:p.Ala243Thr missense NM_001408480.1:c.727G>A NP_001395409.1:p.Ala243Thr missense NM_001408481.1:c.727G>A NP_001395410.1:p.Ala243Thr missense NM_001408482.1:c.727G>A NP_001395411.1:p.Ala243Thr missense NM_001408483.1:c.727G>A NP_001395412.1:p.Ala243Thr missense NM_001408484.1:c.727G>A NP_001395413.1:p.Ala243Thr missense NM_001408485.1:c.727G>A NP_001395414.1:p.Ala243Thr missense NM_001408489.1:c.724G>A NP_001395418.1:p.Ala242Thr missense NM_001408490.1:c.724G>A NP_001395419.1:p.Ala242Thr missense NM_001408491.1:c.724G>A NP_001395420.1:p.Ala242Thr missense NM_001408492.1:c.724G>A NP_001395421.1:p.Ala242Thr missense NM_001408493.1:c.724G>A NP_001395422.1:p.Ala242Thr missense NM_001408494.1:c.697G>A NP_001395423.1:p.Ala233Thr missense NM_001408495.1:c.694G>A NP_001395424.1:p.Ala232Thr missense NM_001408496.1:c.673G>A NP_001395425.1:p.Ala225Thr missense NM_001408497.1:c.673G>A NP_001395426.1:p.Ala225Thr missense NM_001408498.1:c.673G>A NP_001395427.1:p.Ala225Thr missense NM_001408499.1:c.673G>A NP_001395428.1:p.Ala225Thr missense NM_001408500.1:c.673G>A NP_001395429.1:p.Ala225Thr missense NM_001408501.1:c.673G>A NP_001395430.1:p.Ala225Thr missense NM_001408502.1:c.604G>A NP_001395431.1:p.Ala202Thr missense NM_001408503.1:c.670G>A NP_001395432.1:p.Ala224Thr missense NM_001408504.1:c.670G>A NP_001395433.1:p.Ala224Thr missense NM_001408505.1:c.670G>A NP_001395434.1:p.Ala224Thr missense NM_001408506.1:c.610G>A NP_001395435.1:p.Ala204Thr missense NM_001408507.1:c.607G>A NP_001395436.1:p.Ala203Thr missense NM_001408508.1:c.598G>A NP_001395437.1:p.Ala200Thr missense NM_001408509.1:c.598G>A NP_001395438.1:p.Ala200Thr missense NM_001408510.1:c.556G>A NP_001395439.1:p.Ala186Thr missense NM_001408511.1:c.553G>A NP_001395440.1:p.Ala185Thr missense NM_001408512.1:c.433G>A NP_001395441.1:p.Ala145Thr missense NM_001408513.1:c.724G>A NP_001395442.1:p.Ala242Thr missense NM_001408514.1:c.727G>A NP_001395443.1:p.Ala243Thr missense NM_007297.4:c.4105G>A NP_009228.2:p.Ala1369Thr missense NM_007298.4:c.937G>A NP_009229.2:p.Ala313Thr missense NM_007299.4:c.937G>A NP_009230.2:p.Ala313Thr missense NM_007300.4:c.4246G>A NP_009231.2:p.Ala1416Thr missense NM_007304.2:c.937G>A NP_009235.2:p.Ala313Thr missense NR_027676.2:n.4423G>A non-coding transcript variant NC_000017.11:g.43082515C>T NC_000017.10:g.41234532C>T NG_005905.2:g.135469G>A LRG_292:g.135469G>A LRG_292t1:c.4246G>A LRG_292p1:p.Ala1416Thr - Protein change
- A1416T, A1369T, A313T, A266T, A273T, A286T, A311T, A547T, A1288T, A1304T, A1326T, A1344T, A1348T, A1349T, A1414T, A1415T, A202T, A233T, A246T, A1289T, A1303T, A1345T, A1368T, A1374T, A1389T, A225T, A245T, A272T, A312T, A1120T, A1346T, A1373T, A1375T, A1390T, A145T, A185T, A200T, A203T, A224T, A232T, A242T, A268T, A271T, A274T, A548T, A1247T, A1305T, A1327T, A1328T, A1367T, A1388T, A1412T, A186T, A204T, A243T, A264T, A265T, A287T, A310T
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082514:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
- 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. |
|---|---|---|---|---|
| Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
May 27, 2024 | RCV000582944.10 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Dec 18, 2023 | RCV001360983.6 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Sep 9, 2019 | RCV000759537.3 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Nov 2, 2023 | RCV004001314.2 |
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
(Sep 09, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888915.2
First in ClinVar: Mar 14, 2019 Last updated: Jan 26, 2021 |
|
|
|
Uncertain significance
(Oct 20, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000688482.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces alanine with threonine at codon 1416 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
This missense variant replaces alanine with threonine at codon 1416 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373).A functional study has reported that this variant does not significantly impact BRCA1 function in a transcription activation assay (PMID: 28781887, 29884841, 30765603). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
|
|
Uncertain significance
(Dec 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001556940.4
First in ClinVar: Apr 13, 2021 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1416 of the BRCA1 protein (p.Ala1416Thr). … (more)
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1416 of the BRCA1 protein (p.Ala1416Thr). 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: 491073). 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 with a negative predictive value of 95%. 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
(Nov 02, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004817688.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This missense variant replaces alanine with threonine at codon 1416 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
This missense variant replaces alanine with threonine at codon 1416 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373).A functional study has reported that this variant does not significantly impact BRCA1 function in a transcription activation assay (PMID: 28781887, 29884841, 30765603). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 3
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Uncertain significance
(May 27, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002632869.3
First in ClinVar: Nov 29, 2022 Last updated: Aug 11, 2024 |
Comment:
The p.A1416T variant (also known as c.4246G>A), located in coding exon 11 of the BRCA1 gene, results from a G to A substitution at nucleotide … (more)
The p.A1416T variant (also known as c.4246G>A), located in coding exon 11 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4246. The alanine at codon 1416 is replaced by threonine, an amino acid with similar properties. This variant had 58.09% of wildtype activity in a transcription activation assay (Woods NT et al. NPJ Genom Med, 2016 Mar;1:). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. (less)
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Comment:
Comment:
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1416 of the BRCA1 protein (p.Ala1416Thr). 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: 491073). 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 with a negative predictive value of 95%. 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.
Comment:
This missense variant replaces alanine with threonine at codon 1416 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373).A functional study has reported that this variant does not significantly impact BRCA1 function in a transcription activation assay (PMID: 28781887, 29884841, 30765603). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Comment:
The p.A1416T variant (also known as c.4246G>A), located in coding exon 11 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4246. The alanine at codon 1416 is replaced by threonine, an amino acid with similar properties. This variant had 58.09% of wildtype activity in a transcription activation assay (Woods NT et al. NPJ Genom Med, 2016 Mar;1:). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
This missense variant replaces alanine with threonine at codon 1416 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373).A functional study has reported that this variant does not significantly impact BRCA1 function in a transcription activation assay (PMID: 28781887, 29884841, 30765603). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Comment:
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1416 of the BRCA1 protein (p.Ala1416Thr). 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: 491073). 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 with a negative predictive value of 95%. 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.
Comment:
This missense variant replaces alanine with threonine at codon 1416 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373).A functional study has reported that this variant does not significantly impact BRCA1 function in a transcription activation assay (PMID: 28781887, 29884841, 30765603). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Comment:
The p.A1416T variant (also known as c.4246G>A), located in coding exon 11 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4246. The alanine at codon 1416 is replaced by threonine, an amino acid with similar properties. This variant had 58.09% of wildtype activity in a transcription activation assay (Woods NT et al. NPJ Genom Med, 2016 Mar;1:). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. | Fernandes VC | The Journal of biological chemistry | 2019 | PMID: 30765603 |
| Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models. | Hart SN | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 29884841 |
| Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | Woods NT | NPJ genomic medicine | 2016 | PMID: 28781887 |
Text-mined citations for rs370999077 ...
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Record last updated Oct 08, 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.