The p.S1715R variant (also known as c.5145C>G), located in coding exon 16 of the BRCA1 gene, results from a C to G substitution at nucleotide position 5145. The serine at codon 1715 is replaced by arginine, an amino acid with dissimilar properties. In one study, this protein alteration segregated with disease in a Scandinavian family with hereditary breast and ovarian cancer (Vallon-Christersson J et al. Hum. Mol. Genet. 2001 Feb;10(4):353-60). Numerous functional studies have shown that this variant is functionally defective including in homology directed repair, yeast growth retardation, transcription assays, binding activity and specificity, protease sensitivity, and overall stability (Vallon-Christersson J et al. Hum. Mol. Genet. 2001 Feb;10:353-60; Anantha RW et al. Elife 2017 04;6; Thouvenot P et al. PLoS Genet. 2016 06;12:e1006096; Lee MS et al. Cancer Res. 2010 Jun;70:4880-90; Rowling PJ et al. J. Biol. Chem. 2010 Jun;285:20080-7). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)
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.
Pathogenic/Likely pathogenic
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.5145C>G (p.Ser1715Arg)
Variation ID: 55418 Accession: VCV000055418.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063881 (GRCh38) [ NCBI UCSC ] 17: 41215898 (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 Apr 1, 2014 Jun 17, 2024 Mar 6, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5145C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1715Arg missense NM_001407571.1:c.4932C>G NP_001394500.1:p.Ser1644Arg missense NM_001407581.1:c.5211C>G NP_001394510.1:p.Ser1737Arg missense NM_001407582.1:c.5211C>G NP_001394511.1:p.Ser1737Arg missense NM_001407583.1:c.5208C>G NP_001394512.1:p.Ser1736Arg missense NM_001407585.1:c.5208C>G NP_001394514.1:p.Ser1736Arg missense NM_001407587.1:c.5208C>G NP_001394516.1:p.Ser1736Arg missense NM_001407590.1:c.5205C>G NP_001394519.1:p.Ser1735Arg missense NM_001407591.1:c.5205C>G NP_001394520.1:p.Ser1735Arg missense NM_001407593.1:c.5145C>G NP_001394522.1:p.Ser1715Arg missense NM_001407594.1:c.5145C>G NP_001394523.1:p.Ser1715Arg missense NM_001407596.1:c.5145C>G NP_001394525.1:p.Ser1715Arg missense NM_001407597.1:c.5145C>G NP_001394526.1:p.Ser1715Arg missense NM_001407598.1:c.5145C>G NP_001394527.1:p.Ser1715Arg missense NM_001407602.1:c.5145C>G NP_001394531.1:p.Ser1715Arg missense NM_001407603.1:c.5145C>G NP_001394532.1:p.Ser1715Arg missense NM_001407605.1:c.5145C>G NP_001394534.1:p.Ser1715Arg missense NM_001407610.1:c.5142C>G NP_001394539.1:p.Ser1714Arg missense NM_001407611.1:c.5142C>G NP_001394540.1:p.Ser1714Arg missense NM_001407612.1:c.5142C>G NP_001394541.1:p.Ser1714Arg missense NM_001407613.1:c.5142C>G NP_001394542.1:p.Ser1714Arg missense NM_001407614.1:c.5142C>G NP_001394543.1:p.Ser1714Arg missense NM_001407615.1:c.5142C>G NP_001394544.1:p.Ser1714Arg missense NM_001407616.1:c.5142C>G NP_001394545.1:p.Ser1714Arg missense NM_001407617.1:c.5142C>G NP_001394546.1:p.Ser1714Arg missense NM_001407618.1:c.5142C>G NP_001394547.1:p.Ser1714Arg missense NM_001407619.1:c.5142C>G NP_001394548.1:p.Ser1714Arg missense NM_001407620.1:c.5142C>G NP_001394549.1:p.Ser1714Arg missense NM_001407621.1:c.5142C>G NP_001394550.1:p.Ser1714Arg missense NM_001407622.1:c.5142C>G NP_001394551.1:p.Ser1714Arg missense NM_001407623.1:c.5142C>G NP_001394552.1:p.Ser1714Arg missense NM_001407624.1:c.5142C>G NP_001394553.1:p.Ser1714Arg missense NM_001407625.1:c.5142C>G NP_001394554.1:p.Ser1714Arg missense NM_001407626.1:c.5142C>G NP_001394555.1:p.Ser1714Arg missense NM_001407627.1:c.5139C>G NP_001394556.1:p.Ser1713Arg missense NM_001407628.1:c.5139C>G NP_001394557.1:p.Ser1713Arg missense NM_001407629.1:c.5139C>G NP_001394558.1:p.Ser1713Arg missense NM_001407630.1:c.5139C>G NP_001394559.1:p.Ser1713Arg missense NM_001407631.1:c.5139C>G NP_001394560.1:p.Ser1713Arg missense NM_001407632.1:c.5139C>G NP_001394561.1:p.Ser1713Arg missense NM_001407633.1:c.5139C>G NP_001394562.1:p.Ser1713Arg missense NM_001407634.1:c.5139C>G NP_001394563.1:p.Ser1713Arg missense NM_001407635.1:c.5139C>G NP_001394564.1:p.Ser1713Arg missense NM_001407636.1:c.5139C>G NP_001394565.1:p.Ser1713Arg missense NM_001407637.1:c.5139C>G NP_001394566.1:p.Ser1713Arg missense NM_001407638.1:c.5139C>G NP_001394567.1:p.Ser1713Arg missense NM_001407639.1:c.5139C>G NP_001394568.1:p.Ser1713Arg missense NM_001407640.1:c.5139C>G NP_001394569.1:p.Ser1713Arg missense NM_001407641.1:c.5139C>G NP_001394570.1:p.Ser1713Arg missense NM_001407642.1:c.5139C>G NP_001394571.1:p.Ser1713Arg missense NM_001407644.1:c.5136C>G NP_001394573.1:p.Ser1712Arg missense NM_001407645.1:c.5136C>G NP_001394574.1:p.Ser1712Arg missense NM_001407646.1:c.5133C>G NP_001394575.1:p.Ser1711Arg missense NM_001407647.1:c.5130C>G NP_001394576.1:p.Ser1710Arg missense NM_001407648.1:c.5088C>G NP_001394577.1:p.Ser1696Arg missense NM_001407649.1:c.5085C>G NP_001394578.1:p.Ser1695Arg missense NM_001407653.1:c.5067C>G NP_001394582.1:p.Ser1689Arg missense NM_001407654.1:c.5067C>G NP_001394583.1:p.Ser1689Arg missense NM_001407655.1:c.5067C>G NP_001394584.1:p.Ser1689Arg missense NM_001407656.1:c.5064C>G NP_001394585.1:p.Ser1688Arg missense NM_001407657.1:c.5064C>G NP_001394586.1:p.Ser1688Arg missense NM_001407658.1:c.5064C>G NP_001394587.1:p.Ser1688Arg missense NM_001407659.1:c.5061C>G NP_001394588.1:p.Ser1687Arg missense NM_001407660.1:c.5061C>G NP_001394589.1:p.Ser1687Arg missense NM_001407661.1:c.5061C>G NP_001394590.1:p.Ser1687Arg missense NM_001407662.1:c.5061C>G NP_001394591.1:p.Ser1687Arg missense NM_001407663.1:c.5061C>G NP_001394592.1:p.Ser1687Arg missense NM_001407664.1:c.5022C>G NP_001394593.1:p.Ser1674Arg missense NM_001407665.1:c.5022C>G NP_001394594.1:p.Ser1674Arg missense NM_001407666.1:c.5022C>G NP_001394595.1:p.Ser1674Arg missense NM_001407667.1:c.5022C>G NP_001394596.1:p.Ser1674Arg missense NM_001407668.1:c.5022C>G NP_001394597.1:p.Ser1674Arg missense NM_001407669.1:c.5022C>G NP_001394598.1:p.Ser1674Arg missense NM_001407670.1:c.5019C>G NP_001394599.1:p.Ser1673Arg missense NM_001407671.1:c.5019C>G NP_001394600.1:p.Ser1673Arg missense NM_001407672.1:c.5019C>G NP_001394601.1:p.Ser1673Arg missense NM_001407673.1:c.5019C>G NP_001394602.1:p.Ser1673Arg missense NM_001407674.1:c.5019C>G NP_001394603.1:p.Ser1673Arg missense NM_001407675.1:c.5019C>G NP_001394604.1:p.Ser1673Arg missense NM_001407676.1:c.5019C>G NP_001394605.1:p.Ser1673Arg missense NM_001407677.1:c.5019C>G NP_001394606.1:p.Ser1673Arg missense NM_001407678.1:c.5019C>G NP_001394607.1:p.Ser1673Arg missense NM_001407679.1:c.5019C>G NP_001394608.1:p.Ser1673Arg missense NM_001407680.1:c.5019C>G NP_001394609.1:p.Ser1673Arg missense NM_001407681.1:c.5016C>G NP_001394610.1:p.Ser1672Arg missense NM_001407682.1:c.5016C>G NP_001394611.1:p.Ser1672Arg missense NM_001407683.1:c.5016C>G NP_001394612.1:p.Ser1672Arg missense NM_001407684.1:c.5145C>G NP_001394613.1:p.Ser1715Arg missense NM_001407685.1:c.5016C>G NP_001394614.1:p.Ser1672Arg missense NM_001407686.1:c.5016C>G NP_001394615.1:p.Ser1672Arg missense NM_001407687.1:c.5016C>G NP_001394616.1:p.Ser1672Arg missense NM_001407688.1:c.5016C>G NP_001394617.1:p.Ser1672Arg missense NM_001407689.1:c.5016C>G NP_001394618.1:p.Ser1672Arg missense NM_001407690.1:c.5013C>G NP_001394619.1:p.Ser1671Arg missense NM_001407691.1:c.5013C>G NP_001394620.1:p.Ser1671Arg missense NM_001407692.1:c.5004C>G NP_001394621.1:p.Ser1668Arg missense NM_001407694.1:c.5004C>G NP_001394623.1:p.Ser1668Arg missense NM_001407695.1:c.5004C>G NP_001394624.1:p.Ser1668Arg missense NM_001407696.1:c.5004C>G NP_001394625.1:p.Ser1668Arg missense NM_001407697.1:c.5004C>G NP_001394626.1:p.Ser1668Arg missense NM_001407698.1:c.5004C>G NP_001394627.1:p.Ser1668Arg missense NM_001407724.1:c.5004C>G NP_001394653.1:p.Ser1668Arg missense NM_001407725.1:c.5004C>G NP_001394654.1:p.Ser1668Arg missense NM_001407726.1:c.5004C>G NP_001394655.1:p.Ser1668Arg missense NM_001407727.1:c.5004C>G NP_001394656.1:p.Ser1668Arg missense NM_001407728.1:c.5004C>G NP_001394657.1:p.Ser1668Arg missense NM_001407729.1:c.5004C>G NP_001394658.1:p.Ser1668Arg missense NM_001407730.1:c.5004C>G NP_001394659.1:p.Ser1668Arg missense NM_001407731.1:c.5004C>G NP_001394660.1:p.Ser1668Arg missense NM_001407732.1:c.5001C>G NP_001394661.1:p.Ser1667Arg missense NM_001407733.1:c.5001C>G NP_001394662.1:p.Ser1667Arg missense NM_001407734.1:c.5001C>G NP_001394663.1:p.Ser1667Arg missense NM_001407735.1:c.5001C>G NP_001394664.1:p.Ser1667Arg missense NM_001407736.1:c.5001C>G NP_001394665.1:p.Ser1667Arg missense NM_001407737.1:c.5001C>G NP_001394666.1:p.Ser1667Arg missense NM_001407738.1:c.5001C>G NP_001394667.1:p.Ser1667Arg missense NM_001407739.1:c.5001C>G NP_001394668.1:p.Ser1667Arg missense NM_001407740.1:c.5001C>G NP_001394669.1:p.Ser1667Arg missense NM_001407741.1:c.5001C>G NP_001394670.1:p.Ser1667Arg missense NM_001407742.1:c.5001C>G NP_001394671.1:p.Ser1667Arg missense NM_001407743.1:c.5001C>G NP_001394672.1:p.Ser1667Arg missense NM_001407744.1:c.5001C>G NP_001394673.1:p.Ser1667Arg missense NM_001407745.1:c.5001C>G NP_001394674.1:p.Ser1667Arg missense NM_001407746.1:c.5001C>G NP_001394675.1:p.Ser1667Arg missense NM_001407747.1:c.5001C>G NP_001394676.1:p.Ser1667Arg missense NM_001407748.1:c.5001C>G NP_001394677.1:p.Ser1667Arg missense NM_001407749.1:c.5001C>G NP_001394678.1:p.Ser1667Arg missense NM_001407750.1:c.5001C>G NP_001394679.1:p.Ser1667Arg missense NM_001407751.1:c.5001C>G NP_001394680.1:p.Ser1667Arg missense NM_001407752.1:c.5001C>G NP_001394681.1:p.Ser1667Arg missense NM_001407838.1:c.4998C>G NP_001394767.1:p.Ser1666Arg missense NM_001407839.1:c.4998C>G NP_001394768.1:p.Ser1666Arg missense NM_001407841.1:c.4998C>G NP_001394770.1:p.Ser1666Arg missense NM_001407842.1:c.4998C>G NP_001394771.1:p.Ser1666Arg missense NM_001407843.1:c.4998C>G NP_001394772.1:p.Ser1666Arg missense NM_001407844.1:c.4998C>G NP_001394773.1:p.Ser1666Arg missense NM_001407845.1:c.4998C>G NP_001394774.1:p.Ser1666Arg missense NM_001407846.1:c.4998C>G NP_001394775.1:p.Ser1666Arg missense NM_001407847.1:c.4998C>G NP_001394776.1:p.Ser1666Arg missense NM_001407848.1:c.4998C>G NP_001394777.1:p.Ser1666Arg missense NM_001407849.1:c.4998C>G NP_001394778.1:p.Ser1666Arg missense NM_001407850.1:c.4998C>G NP_001394779.1:p.Ser1666Arg missense NM_001407851.1:c.4998C>G NP_001394780.1:p.Ser1666Arg missense NM_001407852.1:c.4998C>G NP_001394781.1:p.Ser1666Arg missense NM_001407853.1:c.4998C>G NP_001394782.1:p.Ser1666Arg missense NM_001407854.1:c.5145C>G NP_001394783.1:p.Ser1715Arg missense NM_001407858.1:c.5142C>G NP_001394787.1:p.Ser1714Arg missense NM_001407859.1:c.5142C>G NP_001394788.1:p.Ser1714Arg missense NM_001407860.1:c.5142C>G NP_001394789.1:p.Ser1714Arg missense NM_001407861.1:c.5139C>G NP_001394790.1:p.Ser1713Arg missense NM_001407862.1:c.4944C>G NP_001394791.1:p.Ser1648Arg missense NM_001407874.1:c.4938C>G NP_001394803.1:p.Ser1646Arg missense NM_001407875.1:c.4938C>G NP_001394804.1:p.Ser1646Arg missense NM_001407879.1:c.4935C>G NP_001394808.1:p.Ser1645Arg missense NM_001407881.1:c.4935C>G NP_001394810.1:p.Ser1645Arg missense NM_001407882.1:c.4935C>G NP_001394811.1:p.Ser1645Arg missense NM_001407884.1:c.4935C>G NP_001394813.1:p.Ser1645Arg missense NM_001407885.1:c.4935C>G NP_001394814.1:p.Ser1645Arg missense NM_001407886.1:c.4935C>G NP_001394815.1:p.Ser1645Arg missense NM_001407887.1:c.4935C>G NP_001394816.1:p.Ser1645Arg missense NM_001407889.1:c.4935C>G NP_001394818.1:p.Ser1645Arg missense NM_001407894.1:c.4932C>G NP_001394823.1:p.Ser1644Arg missense NM_001407895.1:c.4932C>G NP_001394824.1:p.Ser1644Arg missense NM_001407896.1:c.4932C>G NP_001394825.1:p.Ser1644Arg missense NM_001407897.1:c.4932C>G NP_001394826.1:p.Ser1644Arg missense NM_001407898.1:c.4932C>G NP_001394827.1:p.Ser1644Arg missense NM_001407899.1:c.4932C>G NP_001394828.1:p.Ser1644Arg missense NM_001407900.1:c.4932C>G NP_001394829.1:p.Ser1644Arg missense NM_001407902.1:c.4932C>G NP_001394831.1:p.Ser1644Arg missense NM_001407904.1:c.4932C>G NP_001394833.1:p.Ser1644Arg missense NM_001407906.1:c.4932C>G NP_001394835.1:p.Ser1644Arg missense NM_001407907.1:c.4932C>G NP_001394836.1:p.Ser1644Arg missense NM_001407908.1:c.4932C>G NP_001394837.1:p.Ser1644Arg missense NM_001407909.1:c.4932C>G NP_001394838.1:p.Ser1644Arg missense NM_001407910.1:c.4932C>G NP_001394839.1:p.Ser1644Arg missense NM_001407915.1:c.4929C>G NP_001394844.1:p.Ser1643Arg missense NM_001407916.1:c.4929C>G NP_001394845.1:p.Ser1643Arg missense NM_001407917.1:c.4929C>G NP_001394846.1:p.Ser1643Arg missense NM_001407918.1:c.4929C>G NP_001394847.1:p.Ser1643Arg missense NM_001407919.1:c.5022C>G NP_001394848.1:p.Ser1674Arg missense NM_001407920.1:c.4881C>G NP_001394849.1:p.Ser1627Arg missense NM_001407921.1:c.4881C>G NP_001394850.1:p.Ser1627Arg missense NM_001407922.1:c.4881C>G NP_001394851.1:p.Ser1627Arg missense NM_001407923.1:c.4881C>G NP_001394852.1:p.Ser1627Arg missense NM_001407924.1:c.4881C>G NP_001394853.1:p.Ser1627Arg missense NM_001407925.1:c.4881C>G NP_001394854.1:p.Ser1627Arg missense NM_001407926.1:c.4881C>G NP_001394855.1:p.Ser1627Arg missense NM_001407927.1:c.4878C>G NP_001394856.1:p.Ser1626Arg missense NM_001407928.1:c.4878C>G NP_001394857.1:p.Ser1626Arg missense NM_001407929.1:c.4878C>G NP_001394858.1:p.Ser1626Arg missense NM_001407930.1:c.4878C>G NP_001394859.1:p.Ser1626Arg missense NM_001407931.1:c.4878C>G NP_001394860.1:p.Ser1626Arg missense NM_001407932.1:c.4878C>G NP_001394861.1:p.Ser1626Arg missense NM_001407933.1:c.4878C>G NP_001394862.1:p.Ser1626Arg missense NM_001407934.1:c.4875C>G NP_001394863.1:p.Ser1625Arg missense NM_001407935.1:c.4875C>G NP_001394864.1:p.Ser1625Arg missense NM_001407936.1:c.4875C>G NP_001394865.1:p.Ser1625Arg missense NM_001407937.1:c.5022C>G NP_001394866.1:p.Ser1674Arg missense NM_001407938.1:c.5022C>G NP_001394867.1:p.Ser1674Arg missense NM_001407939.1:c.5019C>G NP_001394868.1:p.Ser1673Arg missense NM_001407940.1:c.5019C>G NP_001394869.1:p.Ser1673Arg missense NM_001407941.1:c.5016C>G NP_001394870.1:p.Ser1672Arg missense NM_001407942.1:c.5004C>G NP_001394871.1:p.Ser1668Arg missense NM_001407943.1:c.5001C>G NP_001394872.1:p.Ser1667Arg missense NM_001407944.1:c.5001C>G NP_001394873.1:p.Ser1667Arg missense NM_001407945.1:c.5001C>G NP_001394874.1:p.Ser1667Arg missense NM_001407946.1:c.4812C>G NP_001394875.1:p.Ser1604Arg missense NM_001407947.1:c.4812C>G NP_001394876.1:p.Ser1604Arg missense NM_001407948.1:c.4812C>G NP_001394877.1:p.Ser1604Arg missense NM_001407949.1:c.4812C>G NP_001394878.1:p.Ser1604Arg missense NM_001407950.1:c.4809C>G NP_001394879.1:p.Ser1603Arg missense NM_001407951.1:c.4809C>G NP_001394880.1:p.Ser1603Arg missense NM_001407952.1:c.4809C>G NP_001394881.1:p.Ser1603Arg missense NM_001407953.1:c.4809C>G NP_001394882.1:p.Ser1603Arg missense NM_001407954.1:c.4809C>G NP_001394883.1:p.Ser1603Arg missense NM_001407955.1:c.4809C>G NP_001394884.1:p.Ser1603Arg missense NM_001407956.1:c.4806C>G NP_001394885.1:p.Ser1602Arg missense NM_001407957.1:c.4806C>G NP_001394886.1:p.Ser1602Arg missense NM_001407958.1:c.4806C>G NP_001394887.1:p.Ser1602Arg missense NM_001407959.1:c.4764C>G NP_001394888.1:p.Ser1588Arg missense NM_001407960.1:c.4761C>G NP_001394889.1:p.Ser1587Arg missense NM_001407962.1:c.4761C>G NP_001394891.1:p.Ser1587Arg missense NM_001407963.1:c.4758C>G NP_001394892.1:p.Ser1586Arg missense NM_001407964.1:c.4683C>G NP_001394893.1:p.Ser1561Arg missense NM_001407965.1:c.4638C>G NP_001394894.1:p.Ser1546Arg missense NM_001407966.1:c.4257C>G NP_001394895.1:p.Ser1419Arg missense NM_001407967.1:c.4254C>G NP_001394896.1:p.Ser1418Arg missense NM_001407968.1:c.2541C>G NP_001394897.1:p.Ser847Arg missense NM_001407969.1:c.2538C>G NP_001394898.1:p.Ser846Arg missense NM_001407970.1:c.1902C>G NP_001394899.1:p.Ser634Arg missense NM_001407971.1:c.1902C>G NP_001394900.1:p.Ser634Arg missense NM_001407972.1:c.1899C>G NP_001394901.1:p.Ser633Arg missense NM_001407973.1:c.1836C>G NP_001394902.1:p.Ser612Arg missense NM_001407974.1:c.1836C>G NP_001394903.1:p.Ser612Arg missense NM_001407975.1:c.1836C>G NP_001394904.1:p.Ser612Arg missense NM_001407976.1:c.1836C>G NP_001394905.1:p.Ser612Arg missense NM_001407977.1:c.1836C>G NP_001394906.1:p.Ser612Arg missense NM_001407978.1:c.1836C>G NP_001394907.1:p.Ser612Arg missense NM_001407979.1:c.1833C>G NP_001394908.1:p.Ser611Arg missense NM_001407980.1:c.1833C>G NP_001394909.1:p.Ser611Arg missense NM_001407981.1:c.1833C>G NP_001394910.1:p.Ser611Arg missense NM_001407982.1:c.1833C>G NP_001394911.1:p.Ser611Arg missense NM_001407983.1:c.1833C>G NP_001394912.1:p.Ser611Arg missense NM_001407984.1:c.1833C>G NP_001394913.1:p.Ser611Arg missense NM_001407985.1:c.1833C>G NP_001394914.1:p.Ser611Arg missense NM_001407986.1:c.1833C>G NP_001394915.1:p.Ser611Arg missense NM_001407990.1:c.1833C>G NP_001394919.1:p.Ser611Arg missense NM_001407991.1:c.1833C>G NP_001394920.1:p.Ser611Arg missense NM_001407992.1:c.1833C>G NP_001394921.1:p.Ser611Arg missense NM_001407993.1:c.1833C>G NP_001394922.1:p.Ser611Arg missense NM_001408392.1:c.1830C>G NP_001395321.1:p.Ser610Arg missense NM_001408396.1:c.1830C>G NP_001395325.1:p.Ser610Arg missense NM_001408397.1:c.1830C>G NP_001395326.1:p.Ser610Arg missense NM_001408398.1:c.1830C>G NP_001395327.1:p.Ser610Arg missense NM_001408399.1:c.1830C>G NP_001395328.1:p.Ser610Arg missense NM_001408400.1:c.1830C>G NP_001395329.1:p.Ser610Arg missense NM_001408401.1:c.1830C>G NP_001395330.1:p.Ser610Arg missense NM_001408402.1:c.1830C>G NP_001395331.1:p.Ser610Arg missense NM_001408403.1:c.1830C>G NP_001395332.1:p.Ser610Arg missense NM_001408404.1:c.1830C>G NP_001395333.1:p.Ser610Arg missense NM_001408406.1:c.1827C>G NP_001395335.1:p.Ser609Arg missense NM_001408407.1:c.1827C>G NP_001395336.1:p.Ser609Arg missense NM_001408408.1:c.1827C>G NP_001395337.1:p.Ser609Arg missense NM_001408409.1:c.1824C>G NP_001395338.1:p.Ser608Arg missense NM_001408410.1:c.1761C>G NP_001395339.1:p.Ser587Arg missense NM_001408411.1:c.1758C>G NP_001395340.1:p.Ser586Arg missense NM_001408412.1:c.1755C>G NP_001395341.1:p.Ser585Arg missense NM_001408413.1:c.1755C>G NP_001395342.1:p.Ser585Arg missense NM_001408414.1:c.1755C>G NP_001395343.1:p.Ser585Arg missense NM_001408415.1:c.1755C>G NP_001395344.1:p.Ser585Arg missense NM_001408416.1:c.1755C>G NP_001395345.1:p.Ser585Arg missense NM_001408418.1:c.1719C>G NP_001395347.1:p.Ser573Arg missense NM_001408419.1:c.1719C>G NP_001395348.1:p.Ser573Arg missense NM_001408420.1:c.1719C>G NP_001395349.1:p.Ser573Arg missense NM_001408421.1:c.1716C>G NP_001395350.1:p.Ser572Arg missense NM_001408422.1:c.1716C>G NP_001395351.1:p.Ser572Arg missense NM_001408423.1:c.1716C>G NP_001395352.1:p.Ser572Arg missense NM_001408424.1:c.1716C>G NP_001395353.1:p.Ser572Arg missense NM_001408425.1:c.1713C>G NP_001395354.1:p.Ser571Arg missense NM_001408426.1:c.1713C>G NP_001395355.1:p.Ser571Arg missense NM_001408427.1:c.1713C>G NP_001395356.1:p.Ser571Arg missense NM_001408428.1:c.1713C>G NP_001395357.1:p.Ser571Arg missense NM_001408429.1:c.1713C>G NP_001395358.1:p.Ser571Arg missense NM_001408430.1:c.1713C>G NP_001395359.1:p.Ser571Arg missense NM_001408431.1:c.1713C>G NP_001395360.1:p.Ser571Arg missense NM_001408432.1:c.1710C>G NP_001395361.1:p.Ser570Arg missense NM_001408433.1:c.1710C>G NP_001395362.1:p.Ser570Arg missense NM_001408434.1:c.1710C>G NP_001395363.1:p.Ser570Arg missense NM_001408435.1:c.1710C>G NP_001395364.1:p.Ser570Arg missense NM_001408436.1:c.1710C>G NP_001395365.1:p.Ser570Arg missense NM_001408437.1:c.1710C>G NP_001395366.1:p.Ser570Arg missense NM_001408438.1:c.1710C>G NP_001395367.1:p.Ser570Arg missense NM_001408439.1:c.1710C>G NP_001395368.1:p.Ser570Arg missense NM_001408440.1:c.1710C>G NP_001395369.1:p.Ser570Arg missense NM_001408441.1:c.1710C>G NP_001395370.1:p.Ser570Arg missense NM_001408442.1:c.1710C>G NP_001395371.1:p.Ser570Arg missense NM_001408443.1:c.1710C>G NP_001395372.1:p.Ser570Arg missense NM_001408444.1:c.1710C>G NP_001395373.1:p.Ser570Arg missense NM_001408445.1:c.1707C>G NP_001395374.1:p.Ser569Arg missense NM_001408446.1:c.1707C>G NP_001395375.1:p.Ser569Arg missense NM_001408447.1:c.1707C>G NP_001395376.1:p.Ser569Arg missense NM_001408448.1:c.1707C>G NP_001395377.1:p.Ser569Arg missense NM_001408450.1:c.1707C>G NP_001395379.1:p.Ser569Arg missense NM_001408451.1:c.1701C>G NP_001395380.1:p.Ser567Arg missense NM_001408452.1:c.1695C>G NP_001395381.1:p.Ser565Arg missense NM_001408453.1:c.1695C>G NP_001395382.1:p.Ser565Arg missense NM_001408454.1:c.1695C>G NP_001395383.1:p.Ser565Arg missense NM_001408455.1:c.1695C>G NP_001395384.1:p.Ser565Arg missense NM_001408456.1:c.1695C>G NP_001395385.1:p.Ser565Arg missense NM_001408457.1:c.1695C>G NP_001395386.1:p.Ser565Arg missense NM_001408458.1:c.1692C>G NP_001395387.1:p.Ser564Arg missense NM_001408459.1:c.1692C>G NP_001395388.1:p.Ser564Arg missense NM_001408460.1:c.1692C>G NP_001395389.1:p.Ser564Arg missense NM_001408461.1:c.1692C>G NP_001395390.1:p.Ser564Arg missense NM_001408462.1:c.1692C>G NP_001395391.1:p.Ser564Arg missense NM_001408463.1:c.1692C>G NP_001395392.1:p.Ser564Arg missense NM_001408464.1:c.1692C>G NP_001395393.1:p.Ser564Arg missense NM_001408465.1:c.1692C>G NP_001395394.1:p.Ser564Arg missense NM_001408466.1:c.1692C>G NP_001395395.1:p.Ser564Arg missense NM_001408467.1:c.1692C>G NP_001395396.1:p.Ser564Arg missense NM_001408468.1:c.1689C>G NP_001395397.1:p.Ser563Arg missense NM_001408469.1:c.1689C>G NP_001395398.1:p.Ser563Arg missense NM_001408470.1:c.1689C>G NP_001395399.1:p.Ser563Arg missense NM_001408472.1:c.1833C>G NP_001395401.1:p.Ser611Arg missense NM_001408473.1:c.1830C>G NP_001395402.1:p.Ser610Arg missense NM_001408474.1:c.1635C>G NP_001395403.1:p.Ser545Arg missense NM_001408475.1:c.1632C>G NP_001395404.1:p.Ser544Arg missense NM_001408476.1:c.1632C>G NP_001395405.1:p.Ser544Arg missense NM_001408478.1:c.1626C>G NP_001395407.1:p.Ser542Arg missense NM_001408479.1:c.1626C>G NP_001395408.1:p.Ser542Arg missense NM_001408480.1:c.1626C>G NP_001395409.1:p.Ser542Arg missense NM_001408481.1:c.1623C>G NP_001395410.1:p.Ser541Arg missense NM_001408482.1:c.1623C>G NP_001395411.1:p.Ser541Arg missense NM_001408483.1:c.1623C>G NP_001395412.1:p.Ser541Arg missense NM_001408484.1:c.1623C>G NP_001395413.1:p.Ser541Arg missense NM_001408485.1:c.1623C>G NP_001395414.1:p.Ser541Arg missense NM_001408489.1:c.1623C>G NP_001395418.1:p.Ser541Arg missense NM_001408490.1:c.1623C>G NP_001395419.1:p.Ser541Arg missense NM_001408491.1:c.1623C>G NP_001395420.1:p.Ser541Arg missense NM_001408492.1:c.1620C>G NP_001395421.1:p.Ser540Arg missense NM_001408493.1:c.1620C>G NP_001395422.1:p.Ser540Arg missense NM_001408494.1:c.1596C>G NP_001395423.1:p.Ser532Arg missense NM_001408495.1:c.1590C>G NP_001395424.1:p.Ser530Arg missense NM_001408496.1:c.1572C>G NP_001395425.1:p.Ser524Arg missense NM_001408497.1:c.1572C>G NP_001395426.1:p.Ser524Arg missense NM_001408498.1:c.1572C>G NP_001395427.1:p.Ser524Arg missense NM_001408499.1:c.1572C>G NP_001395428.1:p.Ser524Arg missense NM_001408500.1:c.1572C>G NP_001395429.1:p.Ser524Arg missense NM_001408501.1:c.1572C>G NP_001395430.1:p.Ser524Arg missense NM_001408502.1:c.1569C>G NP_001395431.1:p.Ser523Arg missense NM_001408503.1:c.1569C>G NP_001395432.1:p.Ser523Arg missense NM_001408504.1:c.1569C>G NP_001395433.1:p.Ser523Arg missense NM_001408505.1:c.1566C>G NP_001395434.1:p.Ser522Arg missense NM_001408506.1:c.1509C>G NP_001395435.1:p.Ser503Arg missense NM_001408507.1:c.1506C>G NP_001395436.1:p.Ser502Arg missense NM_001408508.1:c.1497C>G NP_001395437.1:p.Ser499Arg missense NM_001408509.1:c.1494C>G NP_001395438.1:p.Ser498Arg missense NM_001408510.1:c.1455C>G NP_001395439.1:p.Ser485Arg missense NM_001408511.1:c.1452C>G NP_001395440.1:p.Ser484Arg missense NM_001408512.1:c.1332C>G NP_001395441.1:p.Ser444Arg missense NM_001408513.1:c.1305C>G NP_001395442.1:p.Ser435Arg missense NM_001408514.1:c.909C>G NP_001395443.1:p.Ser303Arg missense NM_007297.4:c.5004C>G NP_009228.2:p.Ser1668Arg missense NM_007298.4:c.1833C>G NP_009229.2:p.Ser611Arg missense NM_007299.4:c.1833C>G NP_009230.2:p.Ser611Arg missense NM_007300.4:c.5208C>G NP_009231.2:p.Ser1736Arg missense NM_007304.2:c.1833C>G NP_009235.2:p.Ser611Arg missense NR_027676.2:n.5322C>G non-coding transcript variant NC_000017.11:g.43063881G>C NC_000017.10:g.41215898G>C NG_005905.2:g.154103C>G LRG_292:g.154103C>G LRG_292t1:c.5145C>G LRG_292p1:p.Ser1715Arg P38398:p.Ser1715Arg U14680.1:n.5264C>G - Protein change
- S1715R, S1736R, S611R, S1668R, S1546R, S1602R, S1604R, S1627R, S1666R, S1687R, S1689R, S303R, S435R, S484R, S502R, S523R, S532R, S571R, S573R, S634R, S1586R, S1625R, S1644R, S1648R, S1673R, S1695R, S1696R, S1710R, S1735R, S498R, S499R, S503R, S1418R, S1419R, S1561R, S1603R, S1646R, S1667R, S1672R, S1674R, S1688R, S1711R, S1713R, S1737R, S485R, S563R, S567R, S570R, S572R, S585R, S586R, S633R, S1587R, S1588R, S1626R, S1643R, S1645R, S1671R, S1712R, S1714R, S444R, S524R, S530R, S541R, S564R, S565R, S587R, S609R, S610R, S612R, S522R, S540R, S542R, S544R, S545R, S569R, S608R, S846R, S847R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063880:G:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5145C>G, a MISSENSE variant, produced a function score of -1.87, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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. |
|---|---|---|---|---|
| Pathogenic/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Mar 6, 2024 | RCV000112509.8 | |
| Likely pathogenic (1) |
criteria provided, single submitter
|
May 15, 2018 | RCV002336193.2 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326168.4
First in ClinVar: Apr 01, 2014 Last updated: Dec 11, 2022 |
|
|
|
Likely pathogenic
(May 15, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002645244.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.S1715R variant (also known as c.5145C>G), located in coding exon 16 of the BRCA1 gene, results from a C to G substitution at nucleotide … (more)
The p.S1715R variant (also known as c.5145C>G), located in coding exon 16 of the BRCA1 gene, results from a C to G substitution at nucleotide position 5145. The serine at codon 1715 is replaced by arginine, an amino acid with dissimilar properties. In one study, this protein alteration segregated with disease in a Scandinavian family with hereditary breast and ovarian cancer (Vallon-Christersson J et al. Hum. Mol. Genet. 2001 Feb;10(4):353-60). Numerous functional studies have shown that this variant is functionally defective including in homology directed repair, yeast growth retardation, transcription assays, binding activity and specificity, protease sensitivity, and overall stability (Vallon-Christersson J et al. Hum. Mol. Genet. 2001 Feb;10:353-60; Anantha RW et al. Elife 2017 04;6; Thouvenot P et al. PLoS Genet. 2016 06;12:e1006096; Lee MS et al. Cancer Res. 2010 Jun;70:4880-90; Rowling PJ et al. J. Biol. Chem. 2010 Jun;285:20080-7). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
|
|
|
Likely pathogenic
(Mar 06, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV005058237.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
|
|
|
Uncertain significance
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145331.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001242202.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.8710630832529
|
Comment:
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
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A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
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A brief description of the result of this method for this variant. |
Submitter
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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
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This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_abnormal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001242202.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5145C>G, a MISSENSE variant, produced a function score of -1.87, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5145C>G, a MISSENSE variant, produced a function score of -1.87, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
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Comment:
The p.S1715R variant (also known as c.5145C>G), located in coding exon 16 of the BRCA1 gene, results from a C to G substitution at nucleotide position 5145. The serine at codon 1715 is replaced by arginine, an amino acid with dissimilar properties. In one study, this protein alteration segregated with disease in a Scandinavian family with hereditary breast and ovarian cancer (Vallon-Christersson J et al. Hum. Mol. Genet. 2001 Feb;10(4):353-60). Numerous functional studies have shown that this variant is functionally defective including in homology directed repair, yeast growth retardation, transcription assays, binding activity and specificity, protease sensitivity, and overall stability (Vallon-Christersson J et al. Hum. Mol. Genet. 2001 Feb;10:353-60; Anantha RW et al. Elife 2017 04;6; Thouvenot P et al. PLoS Genet. 2016 06;12:e1006096; Lee MS et al. Cancer Res. 2010 Jun;70:4880-90; Rowling PJ et al. J. Biol. Chem. 2010 Jun;285:20080-7). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
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| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance. | Anantha RW | eLife | 2017 | PMID: 28398198 |
| Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. | Meisel C | Archives of gynecology and obstetrics | 2017 | PMID: 28324225 |
| Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | Woods NT | NPJ genomic medicine | 2016 | PMID: 28781887 |
| Yeast cells reveal the misfolding and the cellular mislocalization of the human BRCA1 protein. | Thouvenot P | Journal of cell science | 2016 | PMID: 27802165 |
| Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. | Thouvenot P | PLoS genetics | 2016 | PMID: 27272900 |
| A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
| Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | Lee MS | Cancer research | 2010 | PMID: 20516115 |
| Toward classification of BRCA1 missense variants using a biophysical approach. | Rowling PJ | The Journal of biological chemistry | 2010 | PMID: 20378548 |
| Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. | Carvalho M | Mutation research | 2009 | PMID: 18992264 |
| A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | Easton DF | American journal of human genetics | 2007 | PMID: 17924331 |
| Functional impact of missense variants in BRCA1 predicted by supervised learning. | Karchin R | PLoS computational biology | 2007 | PMID: 17305420 |
| Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
| Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. | Williams RS | Nature structural & molecular biology | 2004 | PMID: 15133503 |
| Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. | Williams RS | The Journal of biological chemistry | 2003 | PMID: 14534301 |
| Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. | Williams RS | Nature structural biology | 2001 | PMID: 11573086 |
| Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. | Vallon-Christersson J | Human molecular genetics | 2001 | PMID: 11157798 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
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Text-mined citations for rs80357094 ...
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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.