Variant summary: BRCA1 c.4481A>C (p.Glu1494Ala) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251220 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4481A>C in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4481A>C (p.Glu1494Ala)
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4481A>C (p.Glu1494Ala)
Variation ID: 1705078 Accession: VCV001705078.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43076491 (GRCh38) [ NCBI UCSC ] 17: 41228508 (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 Sep 17, 2022 Sep 17, 2022 Aug 11, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4481A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1494Ala missense NM_001407571.1:c.4268A>C NP_001394500.1:p.Glu1423Ala missense NM_001407581.1:c.4547A>C NP_001394510.1:p.Glu1516Ala missense NM_001407582.1:c.4547A>C NP_001394511.1:p.Glu1516Ala missense NM_001407583.1:c.4544A>C NP_001394512.1:p.Glu1515Ala missense NM_001407585.1:c.4544A>C NP_001394514.1:p.Glu1515Ala missense NM_001407587.1:c.4544A>C NP_001394516.1:p.Glu1515Ala missense NM_001407590.1:c.4541A>C NP_001394519.1:p.Glu1514Ala missense NM_001407591.1:c.4541A>C NP_001394520.1:p.Glu1514Ala missense NM_001407593.1:c.4481A>C NP_001394522.1:p.Glu1494Ala missense NM_001407594.1:c.4481A>C NP_001394523.1:p.Glu1494Ala missense NM_001407596.1:c.4481A>C NP_001394525.1:p.Glu1494Ala missense NM_001407597.1:c.4481A>C NP_001394526.1:p.Glu1494Ala missense NM_001407598.1:c.4481A>C NP_001394527.1:p.Glu1494Ala missense NM_001407602.1:c.4481A>C NP_001394531.1:p.Glu1494Ala missense NM_001407603.1:c.4481A>C NP_001394532.1:p.Glu1494Ala missense NM_001407605.1:c.4481A>C NP_001394534.1:p.Glu1494Ala missense NM_001407610.1:c.4478A>C NP_001394539.1:p.Glu1493Ala missense NM_001407611.1:c.4478A>C NP_001394540.1:p.Glu1493Ala missense NM_001407612.1:c.4478A>C NP_001394541.1:p.Glu1493Ala missense NM_001407613.1:c.4478A>C NP_001394542.1:p.Glu1493Ala missense NM_001407614.1:c.4478A>C NP_001394543.1:p.Glu1493Ala missense NM_001407615.1:c.4478A>C NP_001394544.1:p.Glu1493Ala missense NM_001407616.1:c.4478A>C NP_001394545.1:p.Glu1493Ala missense NM_001407617.1:c.4478A>C NP_001394546.1:p.Glu1493Ala missense NM_001407618.1:c.4478A>C NP_001394547.1:p.Glu1493Ala missense NM_001407619.1:c.4478A>C NP_001394548.1:p.Glu1493Ala missense NM_001407620.1:c.4478A>C NP_001394549.1:p.Glu1493Ala missense NM_001407621.1:c.4478A>C NP_001394550.1:p.Glu1493Ala missense NM_001407622.1:c.4478A>C NP_001394551.1:p.Glu1493Ala missense NM_001407623.1:c.4478A>C NP_001394552.1:p.Glu1493Ala missense NM_001407624.1:c.4478A>C NP_001394553.1:p.Glu1493Ala missense NM_001407625.1:c.4478A>C NP_001394554.1:p.Glu1493Ala missense NM_001407626.1:c.4478A>C NP_001394555.1:p.Glu1493Ala missense NM_001407627.1:c.4475A>C NP_001394556.1:p.Glu1492Ala missense NM_001407628.1:c.4475A>C NP_001394557.1:p.Glu1492Ala missense NM_001407629.1:c.4475A>C NP_001394558.1:p.Glu1492Ala missense NM_001407630.1:c.4475A>C NP_001394559.1:p.Glu1492Ala missense NM_001407631.1:c.4475A>C NP_001394560.1:p.Glu1492Ala missense NM_001407632.1:c.4475A>C NP_001394561.1:p.Glu1492Ala missense NM_001407633.1:c.4475A>C NP_001394562.1:p.Glu1492Ala missense NM_001407634.1:c.4475A>C NP_001394563.1:p.Glu1492Ala missense NM_001407635.1:c.4475A>C NP_001394564.1:p.Glu1492Ala missense NM_001407636.1:c.4475A>C NP_001394565.1:p.Glu1492Ala missense NM_001407637.1:c.4475A>C NP_001394566.1:p.Glu1492Ala missense NM_001407638.1:c.4475A>C NP_001394567.1:p.Glu1492Ala missense NM_001407639.1:c.4475A>C NP_001394568.1:p.Glu1492Ala missense NM_001407640.1:c.4475A>C NP_001394569.1:p.Glu1492Ala missense NM_001407641.1:c.4475A>C NP_001394570.1:p.Glu1492Ala missense NM_001407642.1:c.4475A>C NP_001394571.1:p.Glu1492Ala missense NM_001407644.1:c.4472A>C NP_001394573.1:p.Glu1491Ala missense NM_001407645.1:c.4472A>C NP_001394574.1:p.Glu1491Ala missense NM_001407646.1:c.4469A>C NP_001394575.1:p.Glu1490Ala missense NM_001407647.1:c.4466A>C NP_001394576.1:p.Glu1489Ala missense NM_001407648.1:c.4424A>C NP_001394577.1:p.Glu1475Ala missense NM_001407649.1:c.4421A>C NP_001394578.1:p.Glu1474Ala missense NM_001407652.1:c.4481A>C NP_001394581.1:p.Glu1494Ala missense NM_001407653.1:c.4403A>C NP_001394582.1:p.Glu1468Ala missense NM_001407654.1:c.4403A>C NP_001394583.1:p.Glu1468Ala missense NM_001407655.1:c.4403A>C NP_001394584.1:p.Glu1468Ala missense NM_001407656.1:c.4400A>C NP_001394585.1:p.Glu1467Ala missense NM_001407657.1:c.4400A>C NP_001394586.1:p.Glu1467Ala missense NM_001407658.1:c.4400A>C NP_001394587.1:p.Glu1467Ala missense NM_001407659.1:c.4397A>C NP_001394588.1:p.Glu1466Ala missense NM_001407660.1:c.4397A>C NP_001394589.1:p.Glu1466Ala missense NM_001407661.1:c.4397A>C NP_001394590.1:p.Glu1466Ala missense NM_001407662.1:c.4397A>C NP_001394591.1:p.Glu1466Ala missense NM_001407663.1:c.4397A>C NP_001394592.1:p.Glu1466Ala missense NM_001407664.1:c.4358A>C NP_001394593.1:p.Glu1453Ala missense NM_001407665.1:c.4358A>C NP_001394594.1:p.Glu1453Ala missense NM_001407666.1:c.4358A>C NP_001394595.1:p.Glu1453Ala missense NM_001407667.1:c.4358A>C NP_001394596.1:p.Glu1453Ala missense NM_001407668.1:c.4358A>C NP_001394597.1:p.Glu1453Ala missense NM_001407669.1:c.4358A>C NP_001394598.1:p.Glu1453Ala missense NM_001407670.1:c.4355A>C NP_001394599.1:p.Glu1452Ala missense NM_001407671.1:c.4355A>C NP_001394600.1:p.Glu1452Ala missense NM_001407672.1:c.4355A>C NP_001394601.1:p.Glu1452Ala missense NM_001407673.1:c.4355A>C NP_001394602.1:p.Glu1452Ala missense NM_001407674.1:c.4355A>C NP_001394603.1:p.Glu1452Ala missense NM_001407675.1:c.4355A>C NP_001394604.1:p.Glu1452Ala missense NM_001407676.1:c.4355A>C NP_001394605.1:p.Glu1452Ala missense NM_001407677.1:c.4355A>C NP_001394606.1:p.Glu1452Ala missense NM_001407678.1:c.4355A>C NP_001394607.1:p.Glu1452Ala missense NM_001407679.1:c.4355A>C NP_001394608.1:p.Glu1452Ala missense NM_001407680.1:c.4355A>C NP_001394609.1:p.Glu1452Ala missense NM_001407681.1:c.4352A>C NP_001394610.1:p.Glu1451Ala missense NM_001407682.1:c.4352A>C NP_001394611.1:p.Glu1451Ala missense NM_001407683.1:c.4352A>C NP_001394612.1:p.Glu1451Ala missense NM_001407684.1:c.4481A>C NP_001394613.1:p.Glu1494Ala missense NM_001407685.1:c.4352A>C NP_001394614.1:p.Glu1451Ala missense NM_001407686.1:c.4352A>C NP_001394615.1:p.Glu1451Ala missense NM_001407687.1:c.4352A>C NP_001394616.1:p.Glu1451Ala missense NM_001407688.1:c.4352A>C NP_001394617.1:p.Glu1451Ala missense NM_001407689.1:c.4352A>C NP_001394618.1:p.Glu1451Ala missense NM_001407690.1:c.4349A>C NP_001394619.1:p.Glu1450Ala missense NM_001407691.1:c.4349A>C NP_001394620.1:p.Glu1450Ala missense NM_001407692.1:c.4340A>C NP_001394621.1:p.Glu1447Ala missense NM_001407694.1:c.4340A>C NP_001394623.1:p.Glu1447Ala missense NM_001407695.1:c.4340A>C NP_001394624.1:p.Glu1447Ala missense NM_001407696.1:c.4340A>C NP_001394625.1:p.Glu1447Ala missense NM_001407697.1:c.4340A>C NP_001394626.1:p.Glu1447Ala missense NM_001407698.1:c.4340A>C NP_001394627.1:p.Glu1447Ala missense NM_001407724.1:c.4340A>C NP_001394653.1:p.Glu1447Ala missense NM_001407725.1:c.4340A>C NP_001394654.1:p.Glu1447Ala missense NM_001407726.1:c.4340A>C NP_001394655.1:p.Glu1447Ala missense NM_001407727.1:c.4340A>C NP_001394656.1:p.Glu1447Ala missense NM_001407728.1:c.4340A>C NP_001394657.1:p.Glu1447Ala missense NM_001407729.1:c.4340A>C NP_001394658.1:p.Glu1447Ala missense NM_001407730.1:c.4340A>C NP_001394659.1:p.Glu1447Ala missense NM_001407731.1:c.4340A>C NP_001394660.1:p.Glu1447Ala missense NM_001407732.1:c.4337A>C NP_001394661.1:p.Glu1446Ala missense NM_001407733.1:c.4337A>C NP_001394662.1:p.Glu1446Ala missense NM_001407734.1:c.4337A>C NP_001394663.1:p.Glu1446Ala missense NM_001407735.1:c.4337A>C NP_001394664.1:p.Glu1446Ala missense NM_001407736.1:c.4337A>C NP_001394665.1:p.Glu1446Ala missense NM_001407737.1:c.4337A>C NP_001394666.1:p.Glu1446Ala missense NM_001407738.1:c.4337A>C NP_001394667.1:p.Glu1446Ala missense NM_001407739.1:c.4337A>C NP_001394668.1:p.Glu1446Ala missense NM_001407740.1:c.4337A>C NP_001394669.1:p.Glu1446Ala missense NM_001407741.1:c.4337A>C NP_001394670.1:p.Glu1446Ala missense NM_001407742.1:c.4337A>C NP_001394671.1:p.Glu1446Ala missense NM_001407743.1:c.4337A>C NP_001394672.1:p.Glu1446Ala missense NM_001407744.1:c.4337A>C NP_001394673.1:p.Glu1446Ala missense NM_001407745.1:c.4337A>C NP_001394674.1:p.Glu1446Ala missense NM_001407746.1:c.4337A>C NP_001394675.1:p.Glu1446Ala missense NM_001407747.1:c.4337A>C NP_001394676.1:p.Glu1446Ala missense NM_001407748.1:c.4337A>C NP_001394677.1:p.Glu1446Ala missense NM_001407749.1:c.4337A>C NP_001394678.1:p.Glu1446Ala missense NM_001407750.1:c.4337A>C NP_001394679.1:p.Glu1446Ala missense NM_001407751.1:c.4337A>C NP_001394680.1:p.Glu1446Ala missense NM_001407752.1:c.4337A>C NP_001394681.1:p.Glu1446Ala missense NM_001407838.1:c.4334A>C NP_001394767.1:p.Glu1445Ala missense NM_001407839.1:c.4334A>C NP_001394768.1:p.Glu1445Ala missense NM_001407841.1:c.4334A>C NP_001394770.1:p.Glu1445Ala missense NM_001407842.1:c.4334A>C NP_001394771.1:p.Glu1445Ala missense NM_001407843.1:c.4334A>C NP_001394772.1:p.Glu1445Ala missense NM_001407844.1:c.4334A>C NP_001394773.1:p.Glu1445Ala missense NM_001407845.1:c.4334A>C NP_001394774.1:p.Glu1445Ala missense NM_001407846.1:c.4334A>C NP_001394775.1:p.Glu1445Ala missense NM_001407847.1:c.4334A>C NP_001394776.1:p.Glu1445Ala missense NM_001407848.1:c.4334A>C NP_001394777.1:p.Glu1445Ala missense NM_001407849.1:c.4334A>C NP_001394778.1:p.Glu1445Ala missense NM_001407850.1:c.4334A>C NP_001394779.1:p.Glu1445Ala missense NM_001407851.1:c.4334A>C NP_001394780.1:p.Glu1445Ala missense NM_001407852.1:c.4334A>C NP_001394781.1:p.Glu1445Ala missense NM_001407853.1:c.4334A>C NP_001394782.1:p.Glu1445Ala missense NM_001407854.1:c.4481A>C NP_001394783.1:p.Glu1494Ala missense NM_001407858.1:c.4478A>C NP_001394787.1:p.Glu1493Ala missense NM_001407859.1:c.4478A>C NP_001394788.1:p.Glu1493Ala missense NM_001407860.1:c.4478A>C NP_001394789.1:p.Glu1493Ala missense NM_001407861.1:c.4475A>C NP_001394790.1:p.Glu1492Ala missense NM_001407862.1:c.4280A>C NP_001394791.1:p.Glu1427Ala missense NM_001407863.1:c.4355A>C NP_001394792.1:p.Glu1452Ala missense NM_001407874.1:c.4274A>C NP_001394803.1:p.Glu1425Ala missense NM_001407875.1:c.4274A>C NP_001394804.1:p.Glu1425Ala missense NM_001407879.1:c.4271A>C NP_001394808.1:p.Glu1424Ala missense NM_001407881.1:c.4271A>C NP_001394810.1:p.Glu1424Ala missense NM_001407882.1:c.4271A>C NP_001394811.1:p.Glu1424Ala missense NM_001407884.1:c.4271A>C NP_001394813.1:p.Glu1424Ala missense NM_001407885.1:c.4271A>C NP_001394814.1:p.Glu1424Ala missense NM_001407886.1:c.4271A>C NP_001394815.1:p.Glu1424Ala missense NM_001407887.1:c.4271A>C NP_001394816.1:p.Glu1424Ala missense NM_001407889.1:c.4271A>C NP_001394818.1:p.Glu1424Ala missense NM_001407894.1:c.4268A>C NP_001394823.1:p.Glu1423Ala missense NM_001407895.1:c.4268A>C NP_001394824.1:p.Glu1423Ala missense NM_001407896.1:c.4268A>C NP_001394825.1:p.Glu1423Ala missense NM_001407897.1:c.4268A>C NP_001394826.1:p.Glu1423Ala missense NM_001407898.1:c.4268A>C NP_001394827.1:p.Glu1423Ala missense NM_001407899.1:c.4268A>C NP_001394828.1:p.Glu1423Ala missense NM_001407900.1:c.4268A>C NP_001394829.1:p.Glu1423Ala missense NM_001407902.1:c.4268A>C NP_001394831.1:p.Glu1423Ala missense NM_001407904.1:c.4268A>C NP_001394833.1:p.Glu1423Ala missense NM_001407906.1:c.4268A>C NP_001394835.1:p.Glu1423Ala missense NM_001407907.1:c.4268A>C NP_001394836.1:p.Glu1423Ala missense NM_001407908.1:c.4268A>C NP_001394837.1:p.Glu1423Ala missense NM_001407909.1:c.4268A>C NP_001394838.1:p.Glu1423Ala missense NM_001407910.1:c.4268A>C NP_001394839.1:p.Glu1423Ala missense NM_001407915.1:c.4265A>C NP_001394844.1:p.Glu1422Ala missense NM_001407916.1:c.4265A>C NP_001394845.1:p.Glu1422Ala missense NM_001407917.1:c.4265A>C NP_001394846.1:p.Glu1422Ala missense NM_001407918.1:c.4265A>C NP_001394847.1:p.Glu1422Ala missense NM_001407919.1:c.4358A>C NP_001394848.1:p.Glu1453Ala missense NM_001407920.1:c.4217A>C NP_001394849.1:p.Glu1406Ala missense NM_001407921.1:c.4217A>C NP_001394850.1:p.Glu1406Ala missense NM_001407922.1:c.4217A>C NP_001394851.1:p.Glu1406Ala missense NM_001407923.1:c.4217A>C NP_001394852.1:p.Glu1406Ala missense NM_001407924.1:c.4217A>C NP_001394853.1:p.Glu1406Ala missense NM_001407925.1:c.4217A>C NP_001394854.1:p.Glu1406Ala missense NM_001407926.1:c.4217A>C NP_001394855.1:p.Glu1406Ala missense NM_001407927.1:c.4214A>C NP_001394856.1:p.Glu1405Ala missense NM_001407928.1:c.4214A>C NP_001394857.1:p.Glu1405Ala missense NM_001407929.1:c.4214A>C NP_001394858.1:p.Glu1405Ala missense NM_001407930.1:c.4214A>C NP_001394859.1:p.Glu1405Ala missense NM_001407931.1:c.4214A>C NP_001394860.1:p.Glu1405Ala missense NM_001407932.1:c.4214A>C NP_001394861.1:p.Glu1405Ala missense NM_001407933.1:c.4214A>C NP_001394862.1:p.Glu1405Ala missense NM_001407934.1:c.4211A>C NP_001394863.1:p.Glu1404Ala missense NM_001407935.1:c.4211A>C NP_001394864.1:p.Glu1404Ala missense NM_001407936.1:c.4211A>C NP_001394865.1:p.Glu1404Ala missense NM_001407937.1:c.4358A>C NP_001394866.1:p.Glu1453Ala missense NM_001407938.1:c.4358A>C NP_001394867.1:p.Glu1453Ala missense NM_001407939.1:c.4355A>C NP_001394868.1:p.Glu1452Ala missense NM_001407940.1:c.4355A>C NP_001394869.1:p.Glu1452Ala missense NM_001407941.1:c.4352A>C NP_001394870.1:p.Glu1451Ala missense NM_001407942.1:c.4340A>C NP_001394871.1:p.Glu1447Ala missense NM_001407943.1:c.4337A>C NP_001394872.1:p.Glu1446Ala missense NM_001407944.1:c.4337A>C NP_001394873.1:p.Glu1446Ala missense NM_001407945.1:c.4337A>C NP_001394874.1:p.Glu1446Ala missense NM_001407946.1:c.4148A>C NP_001394875.1:p.Glu1383Ala missense NM_001407947.1:c.4148A>C NP_001394876.1:p.Glu1383Ala missense NM_001407948.1:c.4148A>C NP_001394877.1:p.Glu1383Ala missense NM_001407949.1:c.4148A>C NP_001394878.1:p.Glu1383Ala missense NM_001407950.1:c.4145A>C NP_001394879.1:p.Glu1382Ala missense NM_001407951.1:c.4145A>C NP_001394880.1:p.Glu1382Ala missense NM_001407952.1:c.4145A>C NP_001394881.1:p.Glu1382Ala missense NM_001407953.1:c.4145A>C NP_001394882.1:p.Glu1382Ala missense NM_001407954.1:c.4145A>C NP_001394883.1:p.Glu1382Ala missense NM_001407955.1:c.4145A>C NP_001394884.1:p.Glu1382Ala missense NM_001407956.1:c.4142A>C NP_001394885.1:p.Glu1381Ala missense NM_001407957.1:c.4142A>C NP_001394886.1:p.Glu1381Ala missense NM_001407958.1:c.4142A>C NP_001394887.1:p.Glu1381Ala missense NM_001407959.1:c.4100A>C NP_001394888.1:p.Glu1367Ala missense NM_001407960.1:c.4097A>C NP_001394889.1:p.Glu1366Ala missense NM_001407962.1:c.4097A>C NP_001394891.1:p.Glu1366Ala missense NM_001407963.1:c.4094A>C NP_001394892.1:p.Glu1365Ala missense NM_001407965.1:c.3974A>C NP_001394894.1:p.Glu1325Ala missense NM_001407966.1:c.3593A>C NP_001394895.1:p.Glu1198Ala missense NM_001407967.1:c.3590A>C NP_001394896.1:p.Glu1197Ala missense NM_001407968.1:c.1877A>C NP_001394897.1:p.Glu626Ala missense NM_001407969.1:c.1874A>C NP_001394898.1:p.Glu625Ala missense NM_001407970.1:c.1238A>C NP_001394899.1:p.Glu413Ala missense NM_001407971.1:c.1238A>C NP_001394900.1:p.Glu413Ala missense NM_001407972.1:c.1235A>C NP_001394901.1:p.Glu412Ala missense NM_001407973.1:c.1172A>C NP_001394902.1:p.Glu391Ala missense NM_001407974.1:c.1172A>C NP_001394903.1:p.Glu391Ala missense NM_001407975.1:c.1172A>C NP_001394904.1:p.Glu391Ala missense NM_001407976.1:c.1172A>C NP_001394905.1:p.Glu391Ala missense NM_001407977.1:c.1172A>C NP_001394906.1:p.Glu391Ala missense NM_001407978.1:c.1172A>C NP_001394907.1:p.Glu391Ala missense NM_001407979.1:c.1169A>C NP_001394908.1:p.Glu390Ala missense NM_001407980.1:c.1169A>C NP_001394909.1:p.Glu390Ala missense NM_001407981.1:c.1169A>C NP_001394910.1:p.Glu390Ala missense NM_001407982.1:c.1169A>C NP_001394911.1:p.Glu390Ala missense NM_001407983.1:c.1169A>C NP_001394912.1:p.Glu390Ala missense NM_001407984.1:c.1169A>C NP_001394913.1:p.Glu390Ala missense NM_001407985.1:c.1169A>C NP_001394914.1:p.Glu390Ala missense NM_001407986.1:c.1169A>C NP_001394915.1:p.Glu390Ala missense NM_001407990.1:c.1169A>C NP_001394919.1:p.Glu390Ala missense NM_001407991.1:c.1169A>C NP_001394920.1:p.Glu390Ala missense NM_001407992.1:c.1169A>C NP_001394921.1:p.Glu390Ala missense NM_001407993.1:c.1169A>C NP_001394922.1:p.Glu390Ala missense NM_001408392.1:c.1166A>C NP_001395321.1:p.Glu389Ala missense NM_001408396.1:c.1166A>C NP_001395325.1:p.Glu389Ala missense NM_001408397.1:c.1166A>C NP_001395326.1:p.Glu389Ala missense NM_001408398.1:c.1166A>C NP_001395327.1:p.Glu389Ala missense NM_001408399.1:c.1166A>C NP_001395328.1:p.Glu389Ala missense NM_001408400.1:c.1166A>C NP_001395329.1:p.Glu389Ala missense NM_001408401.1:c.1166A>C NP_001395330.1:p.Glu389Ala missense NM_001408402.1:c.1166A>C NP_001395331.1:p.Glu389Ala missense NM_001408403.1:c.1166A>C NP_001395332.1:p.Glu389Ala missense NM_001408404.1:c.1166A>C NP_001395333.1:p.Glu389Ala missense NM_001408406.1:c.1163A>C NP_001395335.1:p.Glu388Ala missense NM_001408407.1:c.1163A>C NP_001395336.1:p.Glu388Ala missense NM_001408408.1:c.1163A>C NP_001395337.1:p.Glu388Ala missense NM_001408409.1:c.1160A>C NP_001395338.1:p.Glu387Ala missense NM_001408410.1:c.1097A>C NP_001395339.1:p.Glu366Ala missense NM_001408411.1:c.1094A>C NP_001395340.1:p.Glu365Ala missense NM_001408412.1:c.1091A>C NP_001395341.1:p.Glu364Ala missense NM_001408413.1:c.1091A>C NP_001395342.1:p.Glu364Ala missense NM_001408414.1:c.1091A>C NP_001395343.1:p.Glu364Ala missense NM_001408415.1:c.1091A>C NP_001395344.1:p.Glu364Ala missense NM_001408416.1:c.1091A>C NP_001395345.1:p.Glu364Ala missense NM_001408418.1:c.1055A>C NP_001395347.1:p.Glu352Ala missense NM_001408419.1:c.1055A>C NP_001395348.1:p.Glu352Ala missense NM_001408420.1:c.1055A>C NP_001395349.1:p.Glu352Ala missense NM_001408421.1:c.1052A>C NP_001395350.1:p.Glu351Ala missense NM_001408422.1:c.1052A>C NP_001395351.1:p.Glu351Ala missense NM_001408423.1:c.1052A>C NP_001395352.1:p.Glu351Ala missense NM_001408424.1:c.1052A>C NP_001395353.1:p.Glu351Ala missense NM_001408425.1:c.1049A>C NP_001395354.1:p.Glu350Ala missense NM_001408426.1:c.1049A>C NP_001395355.1:p.Glu350Ala missense NM_001408427.1:c.1049A>C NP_001395356.1:p.Glu350Ala missense NM_001408428.1:c.1049A>C NP_001395357.1:p.Glu350Ala missense NM_001408429.1:c.1049A>C NP_001395358.1:p.Glu350Ala missense NM_001408430.1:c.1049A>C NP_001395359.1:p.Glu350Ala missense NM_001408431.1:c.1049A>C NP_001395360.1:p.Glu350Ala missense NM_001408432.1:c.1046A>C NP_001395361.1:p.Glu349Ala missense NM_001408433.1:c.1046A>C NP_001395362.1:p.Glu349Ala missense NM_001408434.1:c.1046A>C NP_001395363.1:p.Glu349Ala missense NM_001408435.1:c.1046A>C NP_001395364.1:p.Glu349Ala missense NM_001408436.1:c.1046A>C NP_001395365.1:p.Glu349Ala missense NM_001408437.1:c.1046A>C NP_001395366.1:p.Glu349Ala missense NM_001408438.1:c.1046A>C NP_001395367.1:p.Glu349Ala missense NM_001408439.1:c.1046A>C NP_001395368.1:p.Glu349Ala missense NM_001408440.1:c.1046A>C NP_001395369.1:p.Glu349Ala missense NM_001408441.1:c.1046A>C NP_001395370.1:p.Glu349Ala missense NM_001408442.1:c.1046A>C NP_001395371.1:p.Glu349Ala missense NM_001408443.1:c.1046A>C NP_001395372.1:p.Glu349Ala missense NM_001408444.1:c.1046A>C NP_001395373.1:p.Glu349Ala missense NM_001408445.1:c.1043A>C NP_001395374.1:p.Glu348Ala missense NM_001408446.1:c.1043A>C NP_001395375.1:p.Glu348Ala missense NM_001408447.1:c.1043A>C NP_001395376.1:p.Glu348Ala missense NM_001408448.1:c.1043A>C NP_001395377.1:p.Glu348Ala missense NM_001408450.1:c.1043A>C NP_001395379.1:p.Glu348Ala missense NM_001408451.1:c.1037A>C NP_001395380.1:p.Glu346Ala missense NM_001408452.1:c.1031A>C NP_001395381.1:p.Glu344Ala missense NM_001408453.1:c.1031A>C NP_001395382.1:p.Glu344Ala missense NM_001408454.1:c.1031A>C NP_001395383.1:p.Glu344Ala missense NM_001408455.1:c.1031A>C NP_001395384.1:p.Glu344Ala missense NM_001408456.1:c.1031A>C NP_001395385.1:p.Glu344Ala missense NM_001408457.1:c.1031A>C NP_001395386.1:p.Glu344Ala missense NM_001408458.1:c.1028A>C NP_001395387.1:p.Glu343Ala missense NM_001408459.1:c.1028A>C NP_001395388.1:p.Glu343Ala missense NM_001408460.1:c.1028A>C NP_001395389.1:p.Glu343Ala missense NM_001408461.1:c.1028A>C NP_001395390.1:p.Glu343Ala missense NM_001408462.1:c.1028A>C NP_001395391.1:p.Glu343Ala missense NM_001408463.1:c.1028A>C NP_001395392.1:p.Glu343Ala missense NM_001408464.1:c.1028A>C NP_001395393.1:p.Glu343Ala missense NM_001408465.1:c.1028A>C NP_001395394.1:p.Glu343Ala missense NM_001408466.1:c.1028A>C NP_001395395.1:p.Glu343Ala missense NM_001408467.1:c.1028A>C NP_001395396.1:p.Glu343Ala missense NM_001408468.1:c.1025A>C NP_001395397.1:p.Glu342Ala missense NM_001408469.1:c.1025A>C NP_001395398.1:p.Glu342Ala missense NM_001408470.1:c.1025A>C NP_001395399.1:p.Glu342Ala missense NM_001408472.1:c.1169A>C NP_001395401.1:p.Glu390Ala missense NM_001408473.1:c.1166A>C NP_001395402.1:p.Glu389Ala missense NM_001408474.1:c.971A>C NP_001395403.1:p.Glu324Ala missense NM_001408475.1:c.968A>C NP_001395404.1:p.Glu323Ala missense NM_001408476.1:c.968A>C NP_001395405.1:p.Glu323Ala missense NM_001408478.1:c.962A>C NP_001395407.1:p.Glu321Ala missense NM_001408479.1:c.962A>C NP_001395408.1:p.Glu321Ala missense NM_001408480.1:c.962A>C NP_001395409.1:p.Glu321Ala missense NM_001408481.1:c.959A>C NP_001395410.1:p.Glu320Ala missense NM_001408482.1:c.959A>C NP_001395411.1:p.Glu320Ala missense NM_001408483.1:c.959A>C NP_001395412.1:p.Glu320Ala missense NM_001408484.1:c.959A>C NP_001395413.1:p.Glu320Ala missense NM_001408485.1:c.959A>C NP_001395414.1:p.Glu320Ala missense NM_001408489.1:c.959A>C NP_001395418.1:p.Glu320Ala missense NM_001408490.1:c.959A>C NP_001395419.1:p.Glu320Ala missense NM_001408491.1:c.959A>C NP_001395420.1:p.Glu320Ala missense NM_001408492.1:c.956A>C NP_001395421.1:p.Glu319Ala missense NM_001408493.1:c.956A>C NP_001395422.1:p.Glu319Ala missense NM_001408494.1:c.932A>C NP_001395423.1:p.Glu311Ala missense NM_001408495.1:c.926A>C NP_001395424.1:p.Glu309Ala missense NM_001408496.1:c.908A>C NP_001395425.1:p.Glu303Ala missense NM_001408497.1:c.908A>C NP_001395426.1:p.Glu303Ala missense NM_001408498.1:c.908A>C NP_001395427.1:p.Glu303Ala missense NM_001408499.1:c.908A>C NP_001395428.1:p.Glu303Ala missense NM_001408500.1:c.908A>C NP_001395429.1:p.Glu303Ala missense NM_001408501.1:c.908A>C NP_001395430.1:p.Glu303Ala missense NM_001408502.1:c.905A>C NP_001395431.1:p.Glu302Ala missense NM_001408503.1:c.905A>C NP_001395432.1:p.Glu302Ala missense NM_001408504.1:c.905A>C NP_001395433.1:p.Glu302Ala missense NM_001408505.1:c.902A>C NP_001395434.1:p.Glu301Ala missense NM_001408506.1:c.845A>C NP_001395435.1:p.Glu282Ala missense NM_001408507.1:c.842A>C NP_001395436.1:p.Glu281Ala missense NM_001408508.1:c.833A>C NP_001395437.1:p.Glu278Ala missense NM_001408509.1:c.830A>C NP_001395438.1:p.Glu277Ala missense NM_001408510.1:c.791A>C NP_001395439.1:p.Glu264Ala missense NM_001408511.1:c.788A>C NP_001395440.1:p.Glu263Ala missense NM_001408512.1:c.668A>C NP_001395441.1:p.Glu223Ala missense NM_007297.4:c.4340A>C NP_009228.2:p.Glu1447Ala missense NM_007298.4:c.1169A>C NP_009229.2:p.Glu390Ala missense NM_007299.4:c.1169A>C NP_009230.2:p.Glu390Ala missense NM_007300.4:c.4544A>C NP_009231.2:p.Glu1515Ala missense NM_007304.2:c.1169A>C NP_009235.2:p.Glu390Ala missense NR_027676.2:n.4658A>C non-coding transcript variant NC_000017.11:g.43076491T>G NC_000017.10:g.41228508T>G NG_005905.2:g.141493A>C LRG_292:g.141493A>C LRG_292t1:c.4481A>C LRG_292p1:p.Glu1494Ala - Protein change
- E1197A, E1198A, E1325A, E1365A, E1366A, E1367A, E1381A, E1382A, E1383A, E1404A, E1405A, E1406A, E1422A, E1423A, E1424A, E1425A, E1427A, E1445A, E1446A, E1447A, E1450A, E1451A, E1452A, E1453A, E1466A, E1467A, E1468A, E1474A, E1475A, E1489A, E1490A, E1491A, E1492A, E1493A, E1494A, E1514A, E1515A, E1516A, E223A, E263A, E264A, E277A, E278A, E281A, E282A, E301A, E302A, E303A, E309A, E311A, E319A, E320A, E321A, E323A, E324A, E342A, E343A, E344A, E346A, E348A, E349A, E350A, E351A, E352A, E364A, E365A, E366A, E387A, E388A, E389A, E390A, E391A, E412A, E413A, E625A, E626A
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076490:T: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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Aug 11, 2022 | RCV002283403.1 |
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
(Aug 11, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002571967.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
Comment:
Variant summary: BRCA1 c.4481A>C (p.Glu1494Ala) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.4481A>C (p.Glu1494Ala) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251220 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4481A>C in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
Comment:
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:
Variant summary: BRCA1 c.4481A>C (p.Glu1494Ala) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251220 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4481A>C in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
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 Mar 26, 2023
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.