ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5389T>C (p.Ser1797Pro)
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.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5389T>C (p.Ser1797Pro)
Variation ID: 865411 Accession: VCV000865411.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43049138 (GRCh38) [ NCBI UCSC ] 17: 41201155 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 18, 2020 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5389T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1797Pro missense NM_001407571.1:c.5176T>C NP_001394500.1:p.Ser1726Pro missense NM_001407581.1:c.5455T>C NP_001394510.1:p.Ser1819Pro missense NM_001407582.1:c.5455T>C NP_001394511.1:p.Ser1819Pro missense NM_001407583.1:c.5452T>C NP_001394512.1:p.Ser1818Pro missense NM_001407585.1:c.5452T>C NP_001394514.1:p.Ser1818Pro missense NM_001407587.1:c.5452T>C NP_001394516.1:p.Ser1818Pro missense NM_001407590.1:c.5449T>C NP_001394519.1:p.Ser1817Pro missense NM_001407591.1:c.5449T>C NP_001394520.1:p.Ser1817Pro missense NM_001407593.1:c.5389T>C NP_001394522.1:p.Ser1797Pro missense NM_001407594.1:c.5389T>C NP_001394523.1:p.Ser1797Pro missense NM_001407596.1:c.5389T>C NP_001394525.1:p.Ser1797Pro missense NM_001407597.1:c.5389T>C NP_001394526.1:p.Ser1797Pro missense NM_001407598.1:c.5389T>C NP_001394527.1:p.Ser1797Pro missense NM_001407602.1:c.5389T>C NP_001394531.1:p.Ser1797Pro missense NM_001407603.1:c.5389T>C NP_001394532.1:p.Ser1797Pro missense NM_001407605.1:c.5389T>C NP_001394534.1:p.Ser1797Pro missense NM_001407610.1:c.5386T>C NP_001394539.1:p.Ser1796Pro missense NM_001407611.1:c.5386T>C NP_001394540.1:p.Ser1796Pro missense NM_001407612.1:c.5386T>C NP_001394541.1:p.Ser1796Pro missense NM_001407613.1:c.5386T>C NP_001394542.1:p.Ser1796Pro missense NM_001407614.1:c.5386T>C NP_001394543.1:p.Ser1796Pro missense NM_001407615.1:c.5386T>C NP_001394544.1:p.Ser1796Pro missense NM_001407616.1:c.5386T>C NP_001394545.1:p.Ser1796Pro missense NM_001407617.1:c.5386T>C NP_001394546.1:p.Ser1796Pro missense NM_001407618.1:c.5386T>C NP_001394547.1:p.Ser1796Pro missense NM_001407619.1:c.5386T>C NP_001394548.1:p.Ser1796Pro missense NM_001407620.1:c.5386T>C NP_001394549.1:p.Ser1796Pro missense NM_001407621.1:c.5386T>C NP_001394550.1:p.Ser1796Pro missense NM_001407622.1:c.5386T>C NP_001394551.1:p.Ser1796Pro missense NM_001407623.1:c.5386T>C NP_001394552.1:p.Ser1796Pro missense NM_001407624.1:c.5386T>C NP_001394553.1:p.Ser1796Pro missense NM_001407625.1:c.5386T>C NP_001394554.1:p.Ser1796Pro missense NM_001407626.1:c.5386T>C NP_001394555.1:p.Ser1796Pro missense NM_001407627.1:c.5383T>C NP_001394556.1:p.Ser1795Pro missense NM_001407628.1:c.5383T>C NP_001394557.1:p.Ser1795Pro missense NM_001407629.1:c.5383T>C NP_001394558.1:p.Ser1795Pro missense NM_001407630.1:c.5383T>C NP_001394559.1:p.Ser1795Pro missense NM_001407631.1:c.5383T>C NP_001394560.1:p.Ser1795Pro missense NM_001407632.1:c.5383T>C NP_001394561.1:p.Ser1795Pro missense NM_001407633.1:c.5383T>C NP_001394562.1:p.Ser1795Pro missense NM_001407634.1:c.5383T>C NP_001394563.1:p.Ser1795Pro missense NM_001407635.1:c.5383T>C NP_001394564.1:p.Ser1795Pro missense NM_001407636.1:c.5383T>C NP_001394565.1:p.Ser1795Pro missense NM_001407637.1:c.5383T>C NP_001394566.1:p.Ser1795Pro missense NM_001407638.1:c.5383T>C NP_001394567.1:p.Ser1795Pro missense NM_001407639.1:c.5383T>C NP_001394568.1:p.Ser1795Pro missense NM_001407640.1:c.5383T>C NP_001394569.1:p.Ser1795Pro missense NM_001407641.1:c.5383T>C NP_001394570.1:p.Ser1795Pro missense NM_001407642.1:c.5383T>C NP_001394571.1:p.Ser1795Pro missense NM_001407644.1:c.5380T>C NP_001394573.1:p.Ser1794Pro missense NM_001407645.1:c.5380T>C NP_001394574.1:p.Ser1794Pro missense NM_001407646.1:c.5377T>C NP_001394575.1:p.Ser1793Pro missense NM_001407647.1:c.5374T>C NP_001394576.1:p.Ser1792Pro missense NM_001407648.1:c.5332T>C NP_001394577.1:p.Ser1778Pro missense NM_001407649.1:c.5329T>C NP_001394578.1:p.Ser1777Pro missense NM_001407652.1:c.5311T>C NP_001394581.1:p.Ser1771Pro missense NM_001407653.1:c.5311T>C NP_001394582.1:p.Ser1771Pro missense NM_001407654.1:c.5311T>C NP_001394583.1:p.Ser1771Pro missense NM_001407655.1:c.5311T>C NP_001394584.1:p.Ser1771Pro missense NM_001407656.1:c.5308T>C NP_001394585.1:p.Ser1770Pro missense NM_001407657.1:c.5308T>C NP_001394586.1:p.Ser1770Pro missense NM_001407658.1:c.5308T>C NP_001394587.1:p.Ser1770Pro missense NM_001407659.1:c.5305T>C NP_001394588.1:p.Ser1769Pro missense NM_001407660.1:c.5305T>C NP_001394589.1:p.Ser1769Pro missense NM_001407661.1:c.5305T>C NP_001394590.1:p.Ser1769Pro missense NM_001407662.1:c.5305T>C NP_001394591.1:p.Ser1769Pro missense NM_001407663.1:c.5305T>C NP_001394592.1:p.Ser1769Pro missense NM_001407664.1:c.5266T>C NP_001394593.1:p.Ser1756Pro missense NM_001407665.1:c.5266T>C NP_001394594.1:p.Ser1756Pro missense NM_001407666.1:c.5266T>C NP_001394595.1:p.Ser1756Pro missense NM_001407667.1:c.5266T>C NP_001394596.1:p.Ser1756Pro missense NM_001407668.1:c.5266T>C NP_001394597.1:p.Ser1756Pro missense NM_001407669.1:c.5266T>C NP_001394598.1:p.Ser1756Pro missense NM_001407670.1:c.5263T>C NP_001394599.1:p.Ser1755Pro missense NM_001407671.1:c.5263T>C NP_001394600.1:p.Ser1755Pro missense NM_001407672.1:c.5263T>C NP_001394601.1:p.Ser1755Pro missense NM_001407673.1:c.5263T>C NP_001394602.1:p.Ser1755Pro missense NM_001407674.1:c.5263T>C NP_001394603.1:p.Ser1755Pro missense NM_001407675.1:c.5263T>C NP_001394604.1:p.Ser1755Pro missense NM_001407676.1:c.5263T>C NP_001394605.1:p.Ser1755Pro missense NM_001407677.1:c.5263T>C NP_001394606.1:p.Ser1755Pro missense NM_001407678.1:c.5263T>C NP_001394607.1:p.Ser1755Pro missense NM_001407679.1:c.5263T>C NP_001394608.1:p.Ser1755Pro missense NM_001407680.1:c.5263T>C NP_001394609.1:p.Ser1755Pro missense NM_001407681.1:c.5260T>C NP_001394610.1:p.Ser1754Pro missense NM_001407682.1:c.5260T>C NP_001394611.1:p.Ser1754Pro missense NM_001407683.1:c.5260T>C NP_001394612.1:p.Ser1754Pro missense NM_001407685.1:c.5260T>C NP_001394614.1:p.Ser1754Pro missense NM_001407686.1:c.5260T>C NP_001394615.1:p.Ser1754Pro missense NM_001407687.1:c.5260T>C NP_001394616.1:p.Ser1754Pro missense NM_001407688.1:c.5260T>C NP_001394617.1:p.Ser1754Pro missense NM_001407689.1:c.5260T>C NP_001394618.1:p.Ser1754Pro missense NM_001407690.1:c.5257T>C NP_001394619.1:p.Ser1753Pro missense NM_001407691.1:c.5257T>C NP_001394620.1:p.Ser1753Pro missense NM_001407692.1:c.5248T>C NP_001394621.1:p.Ser1750Pro missense NM_001407694.1:c.5248T>C NP_001394623.1:p.Ser1750Pro missense NM_001407695.1:c.5248T>C NP_001394624.1:p.Ser1750Pro missense NM_001407696.1:c.5248T>C NP_001394625.1:p.Ser1750Pro missense NM_001407697.1:c.5248T>C NP_001394626.1:p.Ser1750Pro missense NM_001407698.1:c.5248T>C NP_001394627.1:p.Ser1750Pro missense NM_001407724.1:c.5248T>C NP_001394653.1:p.Ser1750Pro missense NM_001407725.1:c.5248T>C NP_001394654.1:p.Ser1750Pro missense NM_001407726.1:c.5248T>C NP_001394655.1:p.Ser1750Pro missense NM_001407727.1:c.5248T>C NP_001394656.1:p.Ser1750Pro missense NM_001407728.1:c.5248T>C NP_001394657.1:p.Ser1750Pro missense NM_001407729.1:c.5248T>C NP_001394658.1:p.Ser1750Pro missense NM_001407730.1:c.5248T>C NP_001394659.1:p.Ser1750Pro missense NM_001407731.1:c.5248T>C NP_001394660.1:p.Ser1750Pro missense NM_001407732.1:c.5245T>C NP_001394661.1:p.Ser1749Pro missense NM_001407733.1:c.5245T>C NP_001394662.1:p.Ser1749Pro missense NM_001407734.1:c.5245T>C NP_001394663.1:p.Ser1749Pro missense NM_001407735.1:c.5245T>C NP_001394664.1:p.Ser1749Pro missense NM_001407736.1:c.5245T>C NP_001394665.1:p.Ser1749Pro missense NM_001407737.1:c.5245T>C NP_001394666.1:p.Ser1749Pro missense NM_001407738.1:c.5245T>C NP_001394667.1:p.Ser1749Pro missense NM_001407739.1:c.5245T>C NP_001394668.1:p.Ser1749Pro missense NM_001407740.1:c.5245T>C NP_001394669.1:p.Ser1749Pro missense NM_001407741.1:c.5245T>C NP_001394670.1:p.Ser1749Pro missense NM_001407742.1:c.5245T>C NP_001394671.1:p.Ser1749Pro missense NM_001407743.1:c.5245T>C NP_001394672.1:p.Ser1749Pro missense NM_001407744.1:c.5245T>C NP_001394673.1:p.Ser1749Pro missense NM_001407745.1:c.5245T>C NP_001394674.1:p.Ser1749Pro missense NM_001407746.1:c.5245T>C NP_001394675.1:p.Ser1749Pro missense NM_001407747.1:c.5245T>C NP_001394676.1:p.Ser1749Pro missense NM_001407748.1:c.5245T>C NP_001394677.1:p.Ser1749Pro missense NM_001407749.1:c.5245T>C NP_001394678.1:p.Ser1749Pro missense NM_001407750.1:c.5245T>C NP_001394679.1:p.Ser1749Pro missense NM_001407751.1:c.5245T>C NP_001394680.1:p.Ser1749Pro missense NM_001407752.1:c.5245T>C NP_001394681.1:p.Ser1749Pro missense NM_001407838.1:c.5242T>C NP_001394767.1:p.Ser1748Pro missense NM_001407839.1:c.5242T>C NP_001394768.1:p.Ser1748Pro missense NM_001407841.1:c.5242T>C NP_001394770.1:p.Ser1748Pro missense NM_001407842.1:c.5242T>C NP_001394771.1:p.Ser1748Pro missense NM_001407843.1:c.5242T>C NP_001394772.1:p.Ser1748Pro missense NM_001407844.1:c.5242T>C NP_001394773.1:p.Ser1748Pro missense NM_001407845.1:c.5242T>C NP_001394774.1:p.Ser1748Pro missense NM_001407846.1:c.5242T>C NP_001394775.1:p.Ser1748Pro missense NM_001407847.1:c.5242T>C NP_001394776.1:p.Ser1748Pro missense NM_001407848.1:c.5242T>C NP_001394777.1:p.Ser1748Pro missense NM_001407849.1:c.5242T>C NP_001394778.1:p.Ser1748Pro missense NM_001407850.1:c.5242T>C NP_001394779.1:p.Ser1748Pro missense NM_001407851.1:c.5242T>C NP_001394780.1:p.Ser1748Pro missense NM_001407852.1:c.5242T>C NP_001394781.1:p.Ser1748Pro missense NM_001407853.1:c.5242T>C NP_001394782.1:p.Ser1748Pro missense NM_001407862.1:c.5188T>C NP_001394791.1:p.Ser1730Pro missense NM_001407863.1:c.5185T>C NP_001394792.1:p.Ser1729Pro missense NM_001407874.1:c.5182T>C NP_001394803.1:p.Ser1728Pro missense NM_001407875.1:c.5182T>C NP_001394804.1:p.Ser1728Pro missense NM_001407879.1:c.5179T>C NP_001394808.1:p.Ser1727Pro missense NM_001407881.1:c.5179T>C NP_001394810.1:p.Ser1727Pro missense NM_001407882.1:c.5179T>C NP_001394811.1:p.Ser1727Pro missense NM_001407884.1:c.5179T>C NP_001394813.1:p.Ser1727Pro missense NM_001407885.1:c.5179T>C NP_001394814.1:p.Ser1727Pro missense NM_001407886.1:c.5179T>C NP_001394815.1:p.Ser1727Pro missense NM_001407887.1:c.5179T>C NP_001394816.1:p.Ser1727Pro missense NM_001407889.1:c.5179T>C NP_001394818.1:p.Ser1727Pro missense NM_001407894.1:c.5176T>C NP_001394823.1:p.Ser1726Pro missense NM_001407895.1:c.5176T>C NP_001394824.1:p.Ser1726Pro missense NM_001407896.1:c.5176T>C NP_001394825.1:p.Ser1726Pro missense NM_001407897.1:c.5176T>C NP_001394826.1:p.Ser1726Pro missense NM_001407898.1:c.5176T>C NP_001394827.1:p.Ser1726Pro missense NM_001407899.1:c.5176T>C NP_001394828.1:p.Ser1726Pro missense NM_001407900.1:c.5176T>C NP_001394829.1:p.Ser1726Pro missense NM_001407902.1:c.5176T>C NP_001394831.1:p.Ser1726Pro missense NM_001407904.1:c.5176T>C NP_001394833.1:p.Ser1726Pro missense NM_001407906.1:c.5176T>C NP_001394835.1:p.Ser1726Pro missense NM_001407907.1:c.5176T>C NP_001394836.1:p.Ser1726Pro missense NM_001407908.1:c.5176T>C NP_001394837.1:p.Ser1726Pro missense NM_001407909.1:c.5176T>C NP_001394838.1:p.Ser1726Pro missense NM_001407910.1:c.5176T>C NP_001394839.1:p.Ser1726Pro missense NM_001407915.1:c.5173T>C NP_001394844.1:p.Ser1725Pro missense NM_001407916.1:c.5173T>C NP_001394845.1:p.Ser1725Pro missense NM_001407917.1:c.5173T>C NP_001394846.1:p.Ser1725Pro missense NM_001407918.1:c.5173T>C NP_001394847.1:p.Ser1725Pro missense NM_001407920.1:c.5125T>C NP_001394849.1:p.Ser1709Pro missense NM_001407921.1:c.5125T>C NP_001394850.1:p.Ser1709Pro missense NM_001407922.1:c.5125T>C NP_001394851.1:p.Ser1709Pro missense NM_001407923.1:c.5125T>C NP_001394852.1:p.Ser1709Pro missense NM_001407924.1:c.5125T>C NP_001394853.1:p.Ser1709Pro missense NM_001407925.1:c.5125T>C NP_001394854.1:p.Ser1709Pro missense NM_001407926.1:c.5125T>C NP_001394855.1:p.Ser1709Pro missense NM_001407927.1:c.5122T>C NP_001394856.1:p.Ser1708Pro missense NM_001407928.1:c.5122T>C NP_001394857.1:p.Ser1708Pro missense NM_001407929.1:c.5122T>C NP_001394858.1:p.Ser1708Pro missense NM_001407930.1:c.5122T>C NP_001394859.1:p.Ser1708Pro missense NM_001407931.1:c.5122T>C NP_001394860.1:p.Ser1708Pro missense NM_001407932.1:c.5122T>C NP_001394861.1:p.Ser1708Pro missense NM_001407933.1:c.5122T>C NP_001394862.1:p.Ser1708Pro missense NM_001407934.1:c.5119T>C NP_001394863.1:p.Ser1707Pro missense NM_001407935.1:c.5119T>C NP_001394864.1:p.Ser1707Pro missense NM_001407936.1:c.5119T>C NP_001394865.1:p.Ser1707Pro missense NM_001407946.1:c.5056T>C NP_001394875.1:p.Ser1686Pro missense NM_001407947.1:c.5056T>C NP_001394876.1:p.Ser1686Pro missense NM_001407948.1:c.5056T>C NP_001394877.1:p.Ser1686Pro missense NM_001407949.1:c.5056T>C NP_001394878.1:p.Ser1686Pro missense NM_001407950.1:c.5053T>C NP_001394879.1:p.Ser1685Pro missense NM_001407951.1:c.5053T>C NP_001394880.1:p.Ser1685Pro missense NM_001407952.1:c.5053T>C NP_001394881.1:p.Ser1685Pro missense NM_001407953.1:c.5053T>C NP_001394882.1:p.Ser1685Pro missense NM_001407954.1:c.5053T>C NP_001394883.1:p.Ser1685Pro missense NM_001407955.1:c.5053T>C NP_001394884.1:p.Ser1685Pro missense NM_001407956.1:c.5050T>C NP_001394885.1:p.Ser1684Pro missense NM_001407957.1:c.5050T>C NP_001394886.1:p.Ser1684Pro missense NM_001407958.1:c.5050T>C NP_001394887.1:p.Ser1684Pro missense NM_001407959.1:c.5008T>C NP_001394888.1:p.Ser1670Pro missense NM_001407960.1:c.5005T>C NP_001394889.1:p.Ser1669Pro missense NM_001407962.1:c.5005T>C NP_001394891.1:p.Ser1669Pro missense NM_001407963.1:c.5002T>C NP_001394892.1:p.Ser1668Pro missense NM_001407964.1:c.4927T>C NP_001394893.1:p.Ser1643Pro missense NM_001407965.1:c.4882T>C NP_001394894.1:p.Ser1628Pro missense NM_001407966.1:c.4501T>C NP_001394895.1:p.Ser1501Pro missense NM_001407967.1:c.4498T>C NP_001394896.1:p.Ser1500Pro missense NM_001407968.1:c.2785T>C NP_001394897.1:p.Ser929Pro missense NM_001407969.1:c.2782T>C NP_001394898.1:p.Ser928Pro missense NM_001407970.1:c.2146T>C NP_001394899.1:p.Ser716Pro missense NM_001407971.1:c.2146T>C NP_001394900.1:p.Ser716Pro missense NM_001407972.1:c.2143T>C NP_001394901.1:p.Ser715Pro missense NM_001407973.1:c.2080T>C NP_001394902.1:p.Ser694Pro missense NM_001407974.1:c.2080T>C NP_001394903.1:p.Ser694Pro missense NM_001407975.1:c.2080T>C NP_001394904.1:p.Ser694Pro missense NM_001407976.1:c.2080T>C NP_001394905.1:p.Ser694Pro missense NM_001407977.1:c.2080T>C NP_001394906.1:p.Ser694Pro missense NM_001407978.1:c.2080T>C NP_001394907.1:p.Ser694Pro missense NM_001407979.1:c.2077T>C NP_001394908.1:p.Ser693Pro missense NM_001407980.1:c.2077T>C NP_001394909.1:p.Ser693Pro missense NM_001407981.1:c.2077T>C NP_001394910.1:p.Ser693Pro missense NM_001407982.1:c.2077T>C NP_001394911.1:p.Ser693Pro missense NM_001407983.1:c.2077T>C NP_001394912.1:p.Ser693Pro missense NM_001407984.1:c.2077T>C NP_001394913.1:p.Ser693Pro missense NM_001407985.1:c.2077T>C NP_001394914.1:p.Ser693Pro missense NM_001407986.1:c.2077T>C NP_001394915.1:p.Ser693Pro missense NM_001407990.1:c.2077T>C NP_001394919.1:p.Ser693Pro missense NM_001407991.1:c.2077T>C NP_001394920.1:p.Ser693Pro missense NM_001407992.1:c.2077T>C NP_001394921.1:p.Ser693Pro missense NM_001407993.1:c.2077T>C NP_001394922.1:p.Ser693Pro missense NM_001408392.1:c.2074T>C NP_001395321.1:p.Ser692Pro missense NM_001408396.1:c.2074T>C NP_001395325.1:p.Ser692Pro missense NM_001408397.1:c.2074T>C NP_001395326.1:p.Ser692Pro missense NM_001408398.1:c.2074T>C NP_001395327.1:p.Ser692Pro missense NM_001408399.1:c.2074T>C NP_001395328.1:p.Ser692Pro missense NM_001408400.1:c.2074T>C NP_001395329.1:p.Ser692Pro missense NM_001408401.1:c.2074T>C NP_001395330.1:p.Ser692Pro missense NM_001408402.1:c.2074T>C NP_001395331.1:p.Ser692Pro missense NM_001408403.1:c.2074T>C NP_001395332.1:p.Ser692Pro missense NM_001408404.1:c.2074T>C NP_001395333.1:p.Ser692Pro missense NM_001408406.1:c.2071T>C NP_001395335.1:p.Ser691Pro missense NM_001408407.1:c.2071T>C NP_001395336.1:p.Ser691Pro missense NM_001408408.1:c.2071T>C NP_001395337.1:p.Ser691Pro missense NM_001408409.1:c.2068T>C NP_001395338.1:p.Ser690Pro missense NM_001408410.1:c.2005T>C NP_001395339.1:p.Ser669Pro missense NM_001408411.1:c.2002T>C NP_001395340.1:p.Ser668Pro missense NM_001408412.1:c.1999T>C NP_001395341.1:p.Ser667Pro missense NM_001408413.1:c.1999T>C NP_001395342.1:p.Ser667Pro missense NM_001408414.1:c.1999T>C NP_001395343.1:p.Ser667Pro missense NM_001408415.1:c.1999T>C NP_001395344.1:p.Ser667Pro missense NM_001408416.1:c.1999T>C NP_001395345.1:p.Ser667Pro missense NM_001408418.1:c.1963T>C NP_001395347.1:p.Ser655Pro missense NM_001408419.1:c.1963T>C NP_001395348.1:p.Ser655Pro missense NM_001408420.1:c.1963T>C NP_001395349.1:p.Ser655Pro missense NM_001408421.1:c.1960T>C NP_001395350.1:p.Ser654Pro missense NM_001408422.1:c.1960T>C NP_001395351.1:p.Ser654Pro missense NM_001408423.1:c.1960T>C NP_001395352.1:p.Ser654Pro missense NM_001408424.1:c.1960T>C NP_001395353.1:p.Ser654Pro missense NM_001408425.1:c.1957T>C NP_001395354.1:p.Ser653Pro missense NM_001408426.1:c.1957T>C NP_001395355.1:p.Ser653Pro missense NM_001408427.1:c.1957T>C NP_001395356.1:p.Ser653Pro missense NM_001408428.1:c.1957T>C NP_001395357.1:p.Ser653Pro missense NM_001408429.1:c.1957T>C NP_001395358.1:p.Ser653Pro missense NM_001408430.1:c.1957T>C NP_001395359.1:p.Ser653Pro missense NM_001408431.1:c.1957T>C NP_001395360.1:p.Ser653Pro missense NM_001408432.1:c.1954T>C NP_001395361.1:p.Ser652Pro missense NM_001408433.1:c.1954T>C NP_001395362.1:p.Ser652Pro missense NM_001408434.1:c.1954T>C NP_001395363.1:p.Ser652Pro missense NM_001408435.1:c.1954T>C NP_001395364.1:p.Ser652Pro missense NM_001408436.1:c.1954T>C NP_001395365.1:p.Ser652Pro missense NM_001408437.1:c.1954T>C NP_001395366.1:p.Ser652Pro missense NM_001408438.1:c.1954T>C NP_001395367.1:p.Ser652Pro missense NM_001408439.1:c.1954T>C NP_001395368.1:p.Ser652Pro missense NM_001408440.1:c.1954T>C NP_001395369.1:p.Ser652Pro missense NM_001408441.1:c.1954T>C NP_001395370.1:p.Ser652Pro missense NM_001408442.1:c.1954T>C NP_001395371.1:p.Ser652Pro missense NM_001408443.1:c.1954T>C NP_001395372.1:p.Ser652Pro missense NM_001408444.1:c.1954T>C NP_001395373.1:p.Ser652Pro missense NM_001408445.1:c.1951T>C NP_001395374.1:p.Ser651Pro missense NM_001408446.1:c.1951T>C NP_001395375.1:p.Ser651Pro missense NM_001408447.1:c.1951T>C NP_001395376.1:p.Ser651Pro missense NM_001408448.1:c.1951T>C NP_001395377.1:p.Ser651Pro missense NM_001408450.1:c.1951T>C NP_001395379.1:p.Ser651Pro missense NM_001408451.1:c.1945T>C NP_001395380.1:p.Ser649Pro missense NM_001408452.1:c.1939T>C NP_001395381.1:p.Ser647Pro missense NM_001408453.1:c.1939T>C NP_001395382.1:p.Ser647Pro missense NM_001408454.1:c.1939T>C NP_001395383.1:p.Ser647Pro missense NM_001408455.1:c.1939T>C NP_001395384.1:p.Ser647Pro missense NM_001408456.1:c.1939T>C NP_001395385.1:p.Ser647Pro missense NM_001408457.1:c.1939T>C NP_001395386.1:p.Ser647Pro missense NM_001408458.1:c.1936T>C NP_001395387.1:p.Ser646Pro missense NM_001408459.1:c.1936T>C NP_001395388.1:p.Ser646Pro missense NM_001408460.1:c.1936T>C NP_001395389.1:p.Ser646Pro missense NM_001408461.1:c.1936T>C NP_001395390.1:p.Ser646Pro missense NM_001408462.1:c.1936T>C NP_001395391.1:p.Ser646Pro missense NM_001408463.1:c.1936T>C NP_001395392.1:p.Ser646Pro missense NM_001408464.1:c.1936T>C NP_001395393.1:p.Ser646Pro missense NM_001408465.1:c.1936T>C NP_001395394.1:p.Ser646Pro missense NM_001408466.1:c.1936T>C NP_001395395.1:p.Ser646Pro missense NM_001408467.1:c.1936T>C NP_001395396.1:p.Ser646Pro missense NM_001408468.1:c.1933T>C NP_001395397.1:p.Ser645Pro missense NM_001408469.1:c.1933T>C NP_001395398.1:p.Ser645Pro missense NM_001408470.1:c.1933T>C NP_001395399.1:p.Ser645Pro missense NM_001408474.1:c.1879T>C NP_001395403.1:p.Ser627Pro missense NM_001408475.1:c.1876T>C NP_001395404.1:p.Ser626Pro missense NM_001408476.1:c.1876T>C NP_001395405.1:p.Ser626Pro missense NM_001408478.1:c.1870T>C NP_001395407.1:p.Ser624Pro missense NM_001408479.1:c.1870T>C NP_001395408.1:p.Ser624Pro missense NM_001408480.1:c.1870T>C NP_001395409.1:p.Ser624Pro missense NM_001408481.1:c.1867T>C NP_001395410.1:p.Ser623Pro missense NM_001408482.1:c.1867T>C NP_001395411.1:p.Ser623Pro missense NM_001408483.1:c.1867T>C NP_001395412.1:p.Ser623Pro missense NM_001408484.1:c.1867T>C NP_001395413.1:p.Ser623Pro missense NM_001408485.1:c.1867T>C NP_001395414.1:p.Ser623Pro missense NM_001408489.1:c.1867T>C NP_001395418.1:p.Ser623Pro missense NM_001408490.1:c.1867T>C NP_001395419.1:p.Ser623Pro missense NM_001408491.1:c.1867T>C NP_001395420.1:p.Ser623Pro missense NM_001408492.1:c.1864T>C NP_001395421.1:p.Ser622Pro missense NM_001408493.1:c.1864T>C NP_001395422.1:p.Ser622Pro missense NM_001408494.1:c.1840T>C NP_001395423.1:p.Ser614Pro missense NM_001408495.1:c.1834T>C NP_001395424.1:p.Ser612Pro missense NM_001408496.1:c.1816T>C NP_001395425.1:p.Ser606Pro missense NM_001408497.1:c.1816T>C NP_001395426.1:p.Ser606Pro missense NM_001408498.1:c.1816T>C NP_001395427.1:p.Ser606Pro missense NM_001408499.1:c.1816T>C NP_001395428.1:p.Ser606Pro missense NM_001408500.1:c.1816T>C NP_001395429.1:p.Ser606Pro missense NM_001408501.1:c.1816T>C NP_001395430.1:p.Ser606Pro missense NM_001408502.1:c.1813T>C NP_001395431.1:p.Ser605Pro missense NM_001408503.1:c.1813T>C NP_001395432.1:p.Ser605Pro missense NM_001408504.1:c.1813T>C NP_001395433.1:p.Ser605Pro missense NM_001408505.1:c.1810T>C NP_001395434.1:p.Ser604Pro missense NM_001408506.1:c.1753T>C NP_001395435.1:p.Ser585Pro missense NM_001408507.1:c.1750T>C NP_001395436.1:p.Ser584Pro missense NM_001408508.1:c.1741T>C NP_001395437.1:p.Ser581Pro missense NM_001408509.1:c.1738T>C NP_001395438.1:p.Ser580Pro missense NM_001408510.1:c.1699T>C NP_001395439.1:p.Ser567Pro missense NM_001408511.1:c.1696T>C NP_001395440.1:p.Ser566Pro missense NM_001408512.1:c.1576T>C NP_001395441.1:p.Ser526Pro missense NM_001408513.1:c.1549T>C NP_001395442.1:p.Ser517Pro missense NM_001408514.1:c.1153T>C NP_001395443.1:p.Ser385Pro missense NM_007297.4:c.5248T>C NP_009228.2:p.Ser1750Pro missense NM_007298.4:c.2077T>C NP_009229.2:p.Ser693Pro missense NM_007299.4:c.2021-1435T>C intron variant NM_007300.4:c.5452T>C NP_009231.2:p.Ser1818Pro missense NM_007304.2:c.2077T>C NP_009235.2:p.Ser693Pro missense NR_027676.2:n.5566T>C non-coding transcript variant NC_000017.11:g.43049138A>G NC_000017.10:g.41201155A>G NG_005905.2:g.168846T>C LRG_292:g.168846T>C LRG_292t1:c.5389T>C LRG_292p1:p.Ser1797Pro - Protein change
- S1818P, S1750P, S1797P, S693P, S1500P, S1628P, S1668P, S1669P, S1684P, S1686P, S1707P, S1725P, S1730P, S1777P, S1778P, S1793P, S517P, S605P, S623P, S627P, S645P, S647P, S654P, S669P, S690P, S715P, S716P, S928P, S1501P, S1670P, S1727P, S1728P, S1729P, S1749P, S1756P, S1792P, S385P, S567P, S584P, S604P, S614P, S626P, S646P, S1709P, S1726P, S1748P, S1769P, S1770P, S1794P, S526P, S566P, S581P, S612P, S649P, S651P, S652P, S653P, S668P, S691P, S929P, S1643P, S1685P, S1708P, S1753P, S1754P, S1755P, S1771P, S1795P, S1796P, S1817P, S1819P, S580P, S585P, S606P, S622P, S624P, S655P, S667P, S692P, S694P
- Other names
- -
- Canonical SPDI
- NC_000017.11:43049137:A:G
-
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.5389T>C, a MISSENSE variant, produced a function score of 0.04, 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 |
13041 | 14847 | |
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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001072825.3 |
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. |
|
|---|---|---|---|---|---|
|
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: SCV001238274.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:0.0394864670509823
|
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: SCV001238274.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5389T>C, a MISSENSE variant, produced a function score of 0.04, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5389T>C, a MISSENSE variant, produced a function score of 0.04, 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)
|
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 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs2051077510 ...
HelpRecord 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.