The p.V1791M variant (also known as c.5371G>A), located in coding exon 20 of the BRCA1 gene, results from a G to A substitution at nucleotide position 5371. The valine at codon 1791 is replaced by methionine, an amino acid with highly similar properties. In a study assessing the utility of high-resolution melting analysis, this alteration was identified in 1/20 breast cancer probands and called a variant of uncertain significance (de Juan I et al. Breast Cancer Res. Treat., 2009 May;115:405-14). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5371G>A (p.Val1791Met)
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.
(2)
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
2
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.5371G>A (p.Val1791Met)
Variation ID: 234129 Accession: VCV000234129.7
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43049156 (GRCh38) [ NCBI UCSC ] 17: 41201173 (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 Oct 21, 2017 May 1, 2024 Dec 2, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5371G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1791Met missense NM_001407571.1:c.5158G>A NP_001394500.1:p.Val1720Met missense NM_001407581.1:c.5437G>A NP_001394510.1:p.Val1813Met missense NM_001407582.1:c.5437G>A NP_001394511.1:p.Val1813Met missense NM_001407583.1:c.5434G>A NP_001394512.1:p.Val1812Met missense NM_001407585.1:c.5434G>A NP_001394514.1:p.Val1812Met missense NM_001407587.1:c.5434G>A NP_001394516.1:p.Val1812Met missense NM_001407590.1:c.5431G>A NP_001394519.1:p.Val1811Met missense NM_001407591.1:c.5431G>A NP_001394520.1:p.Val1811Met missense NM_001407593.1:c.5371G>A NP_001394522.1:p.Val1791Met missense NM_001407594.1:c.5371G>A NP_001394523.1:p.Val1791Met missense NM_001407596.1:c.5371G>A NP_001394525.1:p.Val1791Met missense NM_001407597.1:c.5371G>A NP_001394526.1:p.Val1791Met missense NM_001407598.1:c.5371G>A NP_001394527.1:p.Val1791Met missense NM_001407602.1:c.5371G>A NP_001394531.1:p.Val1791Met missense NM_001407603.1:c.5371G>A NP_001394532.1:p.Val1791Met missense NM_001407605.1:c.5371G>A NP_001394534.1:p.Val1791Met missense NM_001407610.1:c.5368G>A NP_001394539.1:p.Val1790Met missense NM_001407611.1:c.5368G>A NP_001394540.1:p.Val1790Met missense NM_001407612.1:c.5368G>A NP_001394541.1:p.Val1790Met missense NM_001407613.1:c.5368G>A NP_001394542.1:p.Val1790Met missense NM_001407614.1:c.5368G>A NP_001394543.1:p.Val1790Met missense NM_001407615.1:c.5368G>A NP_001394544.1:p.Val1790Met missense NM_001407616.1:c.5368G>A NP_001394545.1:p.Val1790Met missense NM_001407617.1:c.5368G>A NP_001394546.1:p.Val1790Met missense NM_001407618.1:c.5368G>A NP_001394547.1:p.Val1790Met missense NM_001407619.1:c.5368G>A NP_001394548.1:p.Val1790Met missense NM_001407620.1:c.5368G>A NP_001394549.1:p.Val1790Met missense NM_001407621.1:c.5368G>A NP_001394550.1:p.Val1790Met missense NM_001407622.1:c.5368G>A NP_001394551.1:p.Val1790Met missense NM_001407623.1:c.5368G>A NP_001394552.1:p.Val1790Met missense NM_001407624.1:c.5368G>A NP_001394553.1:p.Val1790Met missense NM_001407625.1:c.5368G>A NP_001394554.1:p.Val1790Met missense NM_001407626.1:c.5368G>A NP_001394555.1:p.Val1790Met missense NM_001407627.1:c.5365G>A NP_001394556.1:p.Val1789Met missense NM_001407628.1:c.5365G>A NP_001394557.1:p.Val1789Met missense NM_001407629.1:c.5365G>A NP_001394558.1:p.Val1789Met missense NM_001407630.1:c.5365G>A NP_001394559.1:p.Val1789Met missense NM_001407631.1:c.5365G>A NP_001394560.1:p.Val1789Met missense NM_001407632.1:c.5365G>A NP_001394561.1:p.Val1789Met missense NM_001407633.1:c.5365G>A NP_001394562.1:p.Val1789Met missense NM_001407634.1:c.5365G>A NP_001394563.1:p.Val1789Met missense NM_001407635.1:c.5365G>A NP_001394564.1:p.Val1789Met missense NM_001407636.1:c.5365G>A NP_001394565.1:p.Val1789Met missense NM_001407637.1:c.5365G>A NP_001394566.1:p.Val1789Met missense NM_001407638.1:c.5365G>A NP_001394567.1:p.Val1789Met missense NM_001407639.1:c.5365G>A NP_001394568.1:p.Val1789Met missense NM_001407640.1:c.5365G>A NP_001394569.1:p.Val1789Met missense NM_001407641.1:c.5365G>A NP_001394570.1:p.Val1789Met missense NM_001407642.1:c.5365G>A NP_001394571.1:p.Val1789Met missense NM_001407644.1:c.5362G>A NP_001394573.1:p.Val1788Met missense NM_001407645.1:c.5362G>A NP_001394574.1:p.Val1788Met missense NM_001407646.1:c.5359G>A NP_001394575.1:p.Val1787Met missense NM_001407647.1:c.5356G>A NP_001394576.1:p.Val1786Met missense NM_001407648.1:c.5314G>A NP_001394577.1:p.Val1772Met missense NM_001407649.1:c.5311G>A NP_001394578.1:p.Val1771Met missense NM_001407652.1:c.5293G>A NP_001394581.1:p.Val1765Met missense NM_001407653.1:c.5293G>A NP_001394582.1:p.Val1765Met missense NM_001407654.1:c.5293G>A NP_001394583.1:p.Val1765Met missense NM_001407655.1:c.5293G>A NP_001394584.1:p.Val1765Met missense NM_001407656.1:c.5290G>A NP_001394585.1:p.Val1764Met missense NM_001407657.1:c.5290G>A NP_001394586.1:p.Val1764Met missense NM_001407658.1:c.5290G>A NP_001394587.1:p.Val1764Met missense NM_001407659.1:c.5287G>A NP_001394588.1:p.Val1763Met missense NM_001407660.1:c.5287G>A NP_001394589.1:p.Val1763Met missense NM_001407661.1:c.5287G>A NP_001394590.1:p.Val1763Met missense NM_001407662.1:c.5287G>A NP_001394591.1:p.Val1763Met missense NM_001407663.1:c.5287G>A NP_001394592.1:p.Val1763Met missense NM_001407664.1:c.5248G>A NP_001394593.1:p.Val1750Met missense NM_001407665.1:c.5248G>A NP_001394594.1:p.Val1750Met missense NM_001407666.1:c.5248G>A NP_001394595.1:p.Val1750Met missense NM_001407667.1:c.5248G>A NP_001394596.1:p.Val1750Met missense NM_001407668.1:c.5248G>A NP_001394597.1:p.Val1750Met missense NM_001407669.1:c.5248G>A NP_001394598.1:p.Val1750Met missense NM_001407670.1:c.5245G>A NP_001394599.1:p.Val1749Met missense NM_001407671.1:c.5245G>A NP_001394600.1:p.Val1749Met missense NM_001407672.1:c.5245G>A NP_001394601.1:p.Val1749Met missense NM_001407673.1:c.5245G>A NP_001394602.1:p.Val1749Met missense NM_001407674.1:c.5245G>A NP_001394603.1:p.Val1749Met missense NM_001407675.1:c.5245G>A NP_001394604.1:p.Val1749Met missense NM_001407676.1:c.5245G>A NP_001394605.1:p.Val1749Met missense NM_001407677.1:c.5245G>A NP_001394606.1:p.Val1749Met missense NM_001407678.1:c.5245G>A NP_001394607.1:p.Val1749Met missense NM_001407679.1:c.5245G>A NP_001394608.1:p.Val1749Met missense NM_001407680.1:c.5245G>A NP_001394609.1:p.Val1749Met missense NM_001407681.1:c.5242G>A NP_001394610.1:p.Val1748Met missense NM_001407682.1:c.5242G>A NP_001394611.1:p.Val1748Met missense NM_001407683.1:c.5242G>A NP_001394612.1:p.Val1748Met missense NM_001407685.1:c.5242G>A NP_001394614.1:p.Val1748Met missense NM_001407686.1:c.5242G>A NP_001394615.1:p.Val1748Met missense NM_001407687.1:c.5242G>A NP_001394616.1:p.Val1748Met missense NM_001407688.1:c.5242G>A NP_001394617.1:p.Val1748Met missense NM_001407689.1:c.5242G>A NP_001394618.1:p.Val1748Met missense NM_001407690.1:c.5239G>A NP_001394619.1:p.Val1747Met missense NM_001407691.1:c.5239G>A NP_001394620.1:p.Val1747Met missense NM_001407692.1:c.5230G>A NP_001394621.1:p.Val1744Met missense NM_001407694.1:c.5230G>A NP_001394623.1:p.Val1744Met missense NM_001407695.1:c.5230G>A NP_001394624.1:p.Val1744Met missense NM_001407696.1:c.5230G>A NP_001394625.1:p.Val1744Met missense NM_001407697.1:c.5230G>A NP_001394626.1:p.Val1744Met missense NM_001407698.1:c.5230G>A NP_001394627.1:p.Val1744Met missense NM_001407724.1:c.5230G>A NP_001394653.1:p.Val1744Met missense NM_001407725.1:c.5230G>A NP_001394654.1:p.Val1744Met missense NM_001407726.1:c.5230G>A NP_001394655.1:p.Val1744Met missense NM_001407727.1:c.5230G>A NP_001394656.1:p.Val1744Met missense NM_001407728.1:c.5230G>A NP_001394657.1:p.Val1744Met missense NM_001407729.1:c.5230G>A NP_001394658.1:p.Val1744Met missense NM_001407730.1:c.5230G>A NP_001394659.1:p.Val1744Met missense NM_001407731.1:c.5230G>A NP_001394660.1:p.Val1744Met missense NM_001407732.1:c.5227G>A NP_001394661.1:p.Val1743Met missense NM_001407733.1:c.5227G>A NP_001394662.1:p.Val1743Met missense NM_001407734.1:c.5227G>A NP_001394663.1:p.Val1743Met missense NM_001407735.1:c.5227G>A NP_001394664.1:p.Val1743Met missense NM_001407736.1:c.5227G>A NP_001394665.1:p.Val1743Met missense NM_001407737.1:c.5227G>A NP_001394666.1:p.Val1743Met missense NM_001407738.1:c.5227G>A NP_001394667.1:p.Val1743Met missense NM_001407739.1:c.5227G>A NP_001394668.1:p.Val1743Met missense NM_001407740.1:c.5227G>A NP_001394669.1:p.Val1743Met missense NM_001407741.1:c.5227G>A NP_001394670.1:p.Val1743Met missense NM_001407742.1:c.5227G>A NP_001394671.1:p.Val1743Met missense NM_001407743.1:c.5227G>A NP_001394672.1:p.Val1743Met missense NM_001407744.1:c.5227G>A NP_001394673.1:p.Val1743Met missense NM_001407745.1:c.5227G>A NP_001394674.1:p.Val1743Met missense NM_001407746.1:c.5227G>A NP_001394675.1:p.Val1743Met missense NM_001407747.1:c.5227G>A NP_001394676.1:p.Val1743Met missense NM_001407748.1:c.5227G>A NP_001394677.1:p.Val1743Met missense NM_001407749.1:c.5227G>A NP_001394678.1:p.Val1743Met missense NM_001407750.1:c.5227G>A NP_001394679.1:p.Val1743Met missense NM_001407751.1:c.5227G>A NP_001394680.1:p.Val1743Met missense NM_001407752.1:c.5227G>A NP_001394681.1:p.Val1743Met missense NM_001407838.1:c.5224G>A NP_001394767.1:p.Val1742Met missense NM_001407839.1:c.5224G>A NP_001394768.1:p.Val1742Met missense NM_001407841.1:c.5224G>A NP_001394770.1:p.Val1742Met missense NM_001407842.1:c.5224G>A NP_001394771.1:p.Val1742Met missense NM_001407843.1:c.5224G>A NP_001394772.1:p.Val1742Met missense NM_001407844.1:c.5224G>A NP_001394773.1:p.Val1742Met missense NM_001407845.1:c.5224G>A NP_001394774.1:p.Val1742Met missense NM_001407846.1:c.5224G>A NP_001394775.1:p.Val1742Met missense NM_001407847.1:c.5224G>A NP_001394776.1:p.Val1742Met missense NM_001407848.1:c.5224G>A NP_001394777.1:p.Val1742Met missense NM_001407849.1:c.5224G>A NP_001394778.1:p.Val1742Met missense NM_001407850.1:c.5224G>A NP_001394779.1:p.Val1742Met missense NM_001407851.1:c.5224G>A NP_001394780.1:p.Val1742Met missense NM_001407852.1:c.5224G>A NP_001394781.1:p.Val1742Met missense NM_001407853.1:c.5224G>A NP_001394782.1:p.Val1742Met missense NM_001407862.1:c.5170G>A NP_001394791.1:p.Val1724Met missense NM_001407863.1:c.5167G>A NP_001394792.1:p.Val1723Met missense NM_001407874.1:c.5164G>A NP_001394803.1:p.Val1722Met missense NM_001407875.1:c.5164G>A NP_001394804.1:p.Val1722Met missense NM_001407879.1:c.5161G>A NP_001394808.1:p.Val1721Met missense NM_001407881.1:c.5161G>A NP_001394810.1:p.Val1721Met missense NM_001407882.1:c.5161G>A NP_001394811.1:p.Val1721Met missense NM_001407884.1:c.5161G>A NP_001394813.1:p.Val1721Met missense NM_001407885.1:c.5161G>A NP_001394814.1:p.Val1721Met missense NM_001407886.1:c.5161G>A NP_001394815.1:p.Val1721Met missense NM_001407887.1:c.5161G>A NP_001394816.1:p.Val1721Met missense NM_001407889.1:c.5161G>A NP_001394818.1:p.Val1721Met missense NM_001407894.1:c.5158G>A NP_001394823.1:p.Val1720Met missense NM_001407895.1:c.5158G>A NP_001394824.1:p.Val1720Met missense NM_001407896.1:c.5158G>A NP_001394825.1:p.Val1720Met missense NM_001407897.1:c.5158G>A NP_001394826.1:p.Val1720Met missense NM_001407898.1:c.5158G>A NP_001394827.1:p.Val1720Met missense NM_001407899.1:c.5158G>A NP_001394828.1:p.Val1720Met missense NM_001407900.1:c.5158G>A NP_001394829.1:p.Val1720Met missense NM_001407902.1:c.5158G>A NP_001394831.1:p.Val1720Met missense NM_001407904.1:c.5158G>A NP_001394833.1:p.Val1720Met missense NM_001407906.1:c.5158G>A NP_001394835.1:p.Val1720Met missense NM_001407907.1:c.5158G>A NP_001394836.1:p.Val1720Met missense NM_001407908.1:c.5158G>A NP_001394837.1:p.Val1720Met missense NM_001407909.1:c.5158G>A NP_001394838.1:p.Val1720Met missense NM_001407910.1:c.5158G>A NP_001394839.1:p.Val1720Met missense NM_001407915.1:c.5155G>A NP_001394844.1:p.Val1719Met missense NM_001407916.1:c.5155G>A NP_001394845.1:p.Val1719Met missense NM_001407917.1:c.5155G>A NP_001394846.1:p.Val1719Met missense NM_001407918.1:c.5155G>A NP_001394847.1:p.Val1719Met missense NM_001407920.1:c.5107G>A NP_001394849.1:p.Val1703Met missense NM_001407921.1:c.5107G>A NP_001394850.1:p.Val1703Met missense NM_001407922.1:c.5107G>A NP_001394851.1:p.Val1703Met missense NM_001407923.1:c.5107G>A NP_001394852.1:p.Val1703Met missense NM_001407924.1:c.5107G>A NP_001394853.1:p.Val1703Met missense NM_001407925.1:c.5107G>A NP_001394854.1:p.Val1703Met missense NM_001407926.1:c.5107G>A NP_001394855.1:p.Val1703Met missense NM_001407927.1:c.5104G>A NP_001394856.1:p.Val1702Met missense NM_001407928.1:c.5104G>A NP_001394857.1:p.Val1702Met missense NM_001407929.1:c.5104G>A NP_001394858.1:p.Val1702Met missense NM_001407930.1:c.5104G>A NP_001394859.1:p.Val1702Met missense NM_001407931.1:c.5104G>A NP_001394860.1:p.Val1702Met missense NM_001407932.1:c.5104G>A NP_001394861.1:p.Val1702Met missense NM_001407933.1:c.5104G>A NP_001394862.1:p.Val1702Met missense NM_001407934.1:c.5101G>A NP_001394863.1:p.Val1701Met missense NM_001407935.1:c.5101G>A NP_001394864.1:p.Val1701Met missense NM_001407936.1:c.5101G>A NP_001394865.1:p.Val1701Met missense NM_001407946.1:c.5038G>A NP_001394875.1:p.Val1680Met missense NM_001407947.1:c.5038G>A NP_001394876.1:p.Val1680Met missense NM_001407948.1:c.5038G>A NP_001394877.1:p.Val1680Met missense NM_001407949.1:c.5038G>A NP_001394878.1:p.Val1680Met missense NM_001407950.1:c.5035G>A NP_001394879.1:p.Val1679Met missense NM_001407951.1:c.5035G>A NP_001394880.1:p.Val1679Met missense NM_001407952.1:c.5035G>A NP_001394881.1:p.Val1679Met missense NM_001407953.1:c.5035G>A NP_001394882.1:p.Val1679Met missense NM_001407954.1:c.5035G>A NP_001394883.1:p.Val1679Met missense NM_001407955.1:c.5035G>A NP_001394884.1:p.Val1679Met missense NM_001407956.1:c.5032G>A NP_001394885.1:p.Val1678Met missense NM_001407957.1:c.5032G>A NP_001394886.1:p.Val1678Met missense NM_001407958.1:c.5032G>A NP_001394887.1:p.Val1678Met missense NM_001407959.1:c.4990G>A NP_001394888.1:p.Val1664Met missense NM_001407960.1:c.4987G>A NP_001394889.1:p.Val1663Met missense NM_001407962.1:c.4987G>A NP_001394891.1:p.Val1663Met missense NM_001407963.1:c.4984G>A NP_001394892.1:p.Val1662Met missense NM_001407964.1:c.4909G>A NP_001394893.1:p.Val1637Met missense NM_001407965.1:c.4864G>A NP_001394894.1:p.Val1622Met missense NM_001407966.1:c.4483G>A NP_001394895.1:p.Val1495Met missense NM_001407967.1:c.4480G>A NP_001394896.1:p.Val1494Met missense NM_001407968.1:c.2767G>A NP_001394897.1:p.Val923Met missense NM_001407969.1:c.2764G>A NP_001394898.1:p.Val922Met missense NM_001407970.1:c.2128G>A NP_001394899.1:p.Val710Met missense NM_001407971.1:c.2128G>A NP_001394900.1:p.Val710Met missense NM_001407972.1:c.2125G>A NP_001394901.1:p.Val709Met missense NM_001407973.1:c.2062G>A NP_001394902.1:p.Val688Met missense NM_001407974.1:c.2062G>A NP_001394903.1:p.Val688Met missense NM_001407975.1:c.2062G>A NP_001394904.1:p.Val688Met missense NM_001407976.1:c.2062G>A NP_001394905.1:p.Val688Met missense NM_001407977.1:c.2062G>A NP_001394906.1:p.Val688Met missense NM_001407978.1:c.2062G>A NP_001394907.1:p.Val688Met missense NM_001407979.1:c.2059G>A NP_001394908.1:p.Val687Met missense NM_001407980.1:c.2059G>A NP_001394909.1:p.Val687Met missense NM_001407981.1:c.2059G>A NP_001394910.1:p.Val687Met missense NM_001407982.1:c.2059G>A NP_001394911.1:p.Val687Met missense NM_001407983.1:c.2059G>A NP_001394912.1:p.Val687Met missense NM_001407984.1:c.2059G>A NP_001394913.1:p.Val687Met missense NM_001407985.1:c.2059G>A NP_001394914.1:p.Val687Met missense NM_001407986.1:c.2059G>A NP_001394915.1:p.Val687Met missense NM_001407990.1:c.2059G>A NP_001394919.1:p.Val687Met missense NM_001407991.1:c.2059G>A NP_001394920.1:p.Val687Met missense NM_001407992.1:c.2059G>A NP_001394921.1:p.Val687Met missense NM_001407993.1:c.2059G>A NP_001394922.1:p.Val687Met missense NM_001408392.1:c.2056G>A NP_001395321.1:p.Val686Met missense NM_001408396.1:c.2056G>A NP_001395325.1:p.Val686Met missense NM_001408397.1:c.2056G>A NP_001395326.1:p.Val686Met missense NM_001408398.1:c.2056G>A NP_001395327.1:p.Val686Met missense NM_001408399.1:c.2056G>A NP_001395328.1:p.Val686Met missense NM_001408400.1:c.2056G>A NP_001395329.1:p.Val686Met missense NM_001408401.1:c.2056G>A NP_001395330.1:p.Val686Met missense NM_001408402.1:c.2056G>A NP_001395331.1:p.Val686Met missense NM_001408403.1:c.2056G>A NP_001395332.1:p.Val686Met missense NM_001408404.1:c.2056G>A NP_001395333.1:p.Val686Met missense NM_001408406.1:c.2053G>A NP_001395335.1:p.Val685Met missense NM_001408407.1:c.2053G>A NP_001395336.1:p.Val685Met missense NM_001408408.1:c.2053G>A NP_001395337.1:p.Val685Met missense NM_001408409.1:c.2050G>A NP_001395338.1:p.Val684Met missense NM_001408410.1:c.1987G>A NP_001395339.1:p.Val663Met missense NM_001408411.1:c.1984G>A NP_001395340.1:p.Val662Met missense NM_001408412.1:c.1981G>A NP_001395341.1:p.Val661Met missense NM_001408413.1:c.1981G>A NP_001395342.1:p.Val661Met missense NM_001408414.1:c.1981G>A NP_001395343.1:p.Val661Met missense NM_001408415.1:c.1981G>A NP_001395344.1:p.Val661Met missense NM_001408416.1:c.1981G>A NP_001395345.1:p.Val661Met missense NM_001408418.1:c.1945G>A NP_001395347.1:p.Val649Met missense NM_001408419.1:c.1945G>A NP_001395348.1:p.Val649Met missense NM_001408420.1:c.1945G>A NP_001395349.1:p.Val649Met missense NM_001408421.1:c.1942G>A NP_001395350.1:p.Val648Met missense NM_001408422.1:c.1942G>A NP_001395351.1:p.Val648Met missense NM_001408423.1:c.1942G>A NP_001395352.1:p.Val648Met missense NM_001408424.1:c.1942G>A NP_001395353.1:p.Val648Met missense NM_001408425.1:c.1939G>A NP_001395354.1:p.Val647Met missense NM_001408426.1:c.1939G>A NP_001395355.1:p.Val647Met missense NM_001408427.1:c.1939G>A NP_001395356.1:p.Val647Met missense NM_001408428.1:c.1939G>A NP_001395357.1:p.Val647Met missense NM_001408429.1:c.1939G>A NP_001395358.1:p.Val647Met missense NM_001408430.1:c.1939G>A NP_001395359.1:p.Val647Met missense NM_001408431.1:c.1939G>A NP_001395360.1:p.Val647Met missense NM_001408432.1:c.1936G>A NP_001395361.1:p.Val646Met missense NM_001408433.1:c.1936G>A NP_001395362.1:p.Val646Met missense NM_001408434.1:c.1936G>A NP_001395363.1:p.Val646Met missense NM_001408435.1:c.1936G>A NP_001395364.1:p.Val646Met missense NM_001408436.1:c.1936G>A NP_001395365.1:p.Val646Met missense NM_001408437.1:c.1936G>A NP_001395366.1:p.Val646Met missense NM_001408438.1:c.1936G>A NP_001395367.1:p.Val646Met missense NM_001408439.1:c.1936G>A NP_001395368.1:p.Val646Met missense NM_001408440.1:c.1936G>A NP_001395369.1:p.Val646Met missense NM_001408441.1:c.1936G>A NP_001395370.1:p.Val646Met missense NM_001408442.1:c.1936G>A NP_001395371.1:p.Val646Met missense NM_001408443.1:c.1936G>A NP_001395372.1:p.Val646Met missense NM_001408444.1:c.1936G>A NP_001395373.1:p.Val646Met missense NM_001408445.1:c.1933G>A NP_001395374.1:p.Val645Met missense NM_001408446.1:c.1933G>A NP_001395375.1:p.Val645Met missense NM_001408447.1:c.1933G>A NP_001395376.1:p.Val645Met missense NM_001408448.1:c.1933G>A NP_001395377.1:p.Val645Met missense NM_001408450.1:c.1933G>A NP_001395379.1:p.Val645Met missense NM_001408451.1:c.1927G>A NP_001395380.1:p.Val643Met missense NM_001408452.1:c.1921G>A NP_001395381.1:p.Val641Met missense NM_001408453.1:c.1921G>A NP_001395382.1:p.Val641Met missense NM_001408454.1:c.1921G>A NP_001395383.1:p.Val641Met missense NM_001408455.1:c.1921G>A NP_001395384.1:p.Val641Met missense NM_001408456.1:c.1921G>A NP_001395385.1:p.Val641Met missense NM_001408457.1:c.1921G>A NP_001395386.1:p.Val641Met missense NM_001408458.1:c.1918G>A NP_001395387.1:p.Val640Met missense NM_001408459.1:c.1918G>A NP_001395388.1:p.Val640Met missense NM_001408460.1:c.1918G>A NP_001395389.1:p.Val640Met missense NM_001408461.1:c.1918G>A NP_001395390.1:p.Val640Met missense NM_001408462.1:c.1918G>A NP_001395391.1:p.Val640Met missense NM_001408463.1:c.1918G>A NP_001395392.1:p.Val640Met missense NM_001408464.1:c.1918G>A NP_001395393.1:p.Val640Met missense NM_001408465.1:c.1918G>A NP_001395394.1:p.Val640Met missense NM_001408466.1:c.1918G>A NP_001395395.1:p.Val640Met missense NM_001408467.1:c.1918G>A NP_001395396.1:p.Val640Met missense NM_001408468.1:c.1915G>A NP_001395397.1:p.Val639Met missense NM_001408469.1:c.1915G>A NP_001395398.1:p.Val639Met missense NM_001408470.1:c.1915G>A NP_001395399.1:p.Val639Met missense NM_001408474.1:c.1861G>A NP_001395403.1:p.Val621Met missense NM_001408475.1:c.1858G>A NP_001395404.1:p.Val620Met missense NM_001408476.1:c.1858G>A NP_001395405.1:p.Val620Met missense NM_001408478.1:c.1852G>A NP_001395407.1:p.Val618Met missense NM_001408479.1:c.1852G>A NP_001395408.1:p.Val618Met missense NM_001408480.1:c.1852G>A NP_001395409.1:p.Val618Met missense NM_001408481.1:c.1849G>A NP_001395410.1:p.Val617Met missense NM_001408482.1:c.1849G>A NP_001395411.1:p.Val617Met missense NM_001408483.1:c.1849G>A NP_001395412.1:p.Val617Met missense NM_001408484.1:c.1849G>A NP_001395413.1:p.Val617Met missense NM_001408485.1:c.1849G>A NP_001395414.1:p.Val617Met missense NM_001408489.1:c.1849G>A NP_001395418.1:p.Val617Met missense NM_001408490.1:c.1849G>A NP_001395419.1:p.Val617Met missense NM_001408491.1:c.1849G>A NP_001395420.1:p.Val617Met missense NM_001408492.1:c.1846G>A NP_001395421.1:p.Val616Met missense NM_001408493.1:c.1846G>A NP_001395422.1:p.Val616Met missense NM_001408494.1:c.1822G>A NP_001395423.1:p.Val608Met missense NM_001408495.1:c.1816G>A NP_001395424.1:p.Val606Met missense NM_001408496.1:c.1798G>A NP_001395425.1:p.Val600Met missense NM_001408497.1:c.1798G>A NP_001395426.1:p.Val600Met missense NM_001408498.1:c.1798G>A NP_001395427.1:p.Val600Met missense NM_001408499.1:c.1798G>A NP_001395428.1:p.Val600Met missense NM_001408500.1:c.1798G>A NP_001395429.1:p.Val600Met missense NM_001408501.1:c.1798G>A NP_001395430.1:p.Val600Met missense NM_001408502.1:c.1795G>A NP_001395431.1:p.Val599Met missense NM_001408503.1:c.1795G>A NP_001395432.1:p.Val599Met missense NM_001408504.1:c.1795G>A NP_001395433.1:p.Val599Met missense NM_001408505.1:c.1792G>A NP_001395434.1:p.Val598Met missense NM_001408506.1:c.1735G>A NP_001395435.1:p.Val579Met missense NM_001408507.1:c.1732G>A NP_001395436.1:p.Val578Met missense NM_001408508.1:c.1723G>A NP_001395437.1:p.Val575Met missense NM_001408509.1:c.1720G>A NP_001395438.1:p.Val574Met missense NM_001408510.1:c.1681G>A NP_001395439.1:p.Val561Met missense NM_001408511.1:c.1678G>A NP_001395440.1:p.Val560Met missense NM_001408512.1:c.1558G>A NP_001395441.1:p.Val520Met missense NM_001408513.1:c.1531G>A NP_001395442.1:p.Val511Met missense NM_001408514.1:c.1135G>A NP_001395443.1:p.Val379Met missense NM_007297.4:c.5230G>A NP_009228.2:p.Val1744Met missense NM_007298.4:c.2059G>A NP_009229.2:p.Val687Met missense NM_007299.4:c.2021-1453G>A intron variant NM_007300.4:c.5434G>A NP_009231.2:p.Val1812Met missense NM_007304.2:c.2059G>A NP_009235.2:p.Val687Met missense NR_027676.2:n.5548G>A non-coding transcript variant NC_000017.11:g.43049156C>T NC_000017.10:g.41201173C>T NG_005905.2:g.168828G>A LRG_292:g.168828G>A LRG_292t1:c.5371G>A LRG_292p1:p.Val1791Met - Protein change
- V1791M, V687M, V1812M, V1744M, V1719M, V1723M, V1763M, V1787M, V1789M, V1790M, V1811M, V560M, V575M, V578M, V600M, V618M, V620M, V639M, V640M, V663M, V1664M, V1679M, V1701M, V1495M, V1662M, V1663M, V1680M, V1720M, V1721M, V1748M, V1749M, V1750M, V1771M, V1786M, V379M, V520M, V598M, V647M, V648M, V662M, V684M, V1494M, V1743M, V1764M, V1788M, V511M, V561M, V608M, V641M, V645M, V646M, V686M, V688M, V709M, V922M, V923M, V1622M, V1637M, V1678M, V1702M, V1703M, V1722M, V1724M, V1742M, V1747M, V1765M, V1772M, V1813M, V574M, V579M, V599M, V606M, V616M, V617M, V621M, V643M, V649M, V661M, V685M, V710M
- Other names
- -
- Canonical SPDI
- NC_000017.11:43049155:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_normal; Sequence Ontology [ SO:0002219]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5371G>A, a MISSENSE variant, produced a function score of -0.25, corresponding to a functional classification of FUNCTIONAL. 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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Dec 2, 2016 | RCV000215412.5 | |
| not provided (1) |
no classification provided
|
- | RCV001073134.3 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Dec 02, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000278642.7
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The p.V1791M variant (also known as c.5371G>A), located in coding exon 20 of the BRCA1 gene, results from a G to A substitution at nucleotide … (more)
The p.V1791M variant (also known as c.5371G>A), located in coding exon 20 of the BRCA1 gene, results from a G to A substitution at nucleotide position 5371. The valine at codon 1791 is replaced by methionine, an amino acid with highly similar properties. In a study assessing the utility of high-resolution melting analysis, this alteration was identified in 1/20 breast cancer probands and called a variant of uncertain significance (de Juan I et al. Breast Cancer Res. Treat., 2009 May;115:405-14). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
|
|
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: SCV001238637.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.252402919340413
|
Comment:
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
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
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|---|---|---|---|---|
|
functionally_normal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001238637.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5371G>A, a MISSENSE variant, produced a function score of -0.25, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5371G>A, a MISSENSE variant, produced a function score of -0.25, corresponding to a functional classification of FUNCTIONAL. 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)
|
Comment:
The p.V1791M variant (also known as c.5371G>A), located in coding exon 20 of the BRCA1 gene, results from a G to A substitution at nucleotide position 5371. The valine at codon 1791 is replaced by methionine, an amino acid with highly similar properties. In a study assessing the utility of high-resolution melting analysis, this alteration was identified in 1/20 breast cancer probands and called a variant of uncertain significance (de Juan I et al. Breast Cancer Res. Treat., 2009 May;115:405-14). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations. | de Juan I | Breast cancer research and treatment | 2009 | PMID: 18528753 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs145758886 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
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.