Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 1485 of the BRCA1 protein (p.Thr1485Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4454C>G (p.Thr1485Ser)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4454C>G (p.Thr1485Ser)
Variation ID: 856839 Accession: VCV000856839.9
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43076518 (GRCh38) [ NCBI UCSC ] 17: 41228535 (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 15, 2020 Feb 20, 2024 May 18, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4454C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1485Ser missense NM_001407571.1:c.4241C>G NP_001394500.1:p.Thr1414Ser missense NM_001407581.1:c.4520C>G NP_001394510.1:p.Thr1507Ser missense NM_001407582.1:c.4520C>G NP_001394511.1:p.Thr1507Ser missense NM_001407583.1:c.4517C>G NP_001394512.1:p.Thr1506Ser missense NM_001407585.1:c.4517C>G NP_001394514.1:p.Thr1506Ser missense NM_001407587.1:c.4517C>G NP_001394516.1:p.Thr1506Ser missense NM_001407590.1:c.4514C>G NP_001394519.1:p.Thr1505Ser missense NM_001407591.1:c.4514C>G NP_001394520.1:p.Thr1505Ser missense NM_001407593.1:c.4454C>G NP_001394522.1:p.Thr1485Ser missense NM_001407594.1:c.4454C>G NP_001394523.1:p.Thr1485Ser missense NM_001407596.1:c.4454C>G NP_001394525.1:p.Thr1485Ser missense NM_001407597.1:c.4454C>G NP_001394526.1:p.Thr1485Ser missense NM_001407598.1:c.4454C>G NP_001394527.1:p.Thr1485Ser missense NM_001407602.1:c.4454C>G NP_001394531.1:p.Thr1485Ser missense NM_001407603.1:c.4454C>G NP_001394532.1:p.Thr1485Ser missense NM_001407605.1:c.4454C>G NP_001394534.1:p.Thr1485Ser missense NM_001407610.1:c.4451C>G NP_001394539.1:p.Thr1484Ser missense NM_001407611.1:c.4451C>G NP_001394540.1:p.Thr1484Ser missense NM_001407612.1:c.4451C>G NP_001394541.1:p.Thr1484Ser missense NM_001407613.1:c.4451C>G NP_001394542.1:p.Thr1484Ser missense NM_001407614.1:c.4451C>G NP_001394543.1:p.Thr1484Ser missense NM_001407615.1:c.4451C>G NP_001394544.1:p.Thr1484Ser missense NM_001407616.1:c.4451C>G NP_001394545.1:p.Thr1484Ser missense NM_001407617.1:c.4451C>G NP_001394546.1:p.Thr1484Ser missense NM_001407618.1:c.4451C>G NP_001394547.1:p.Thr1484Ser missense NM_001407619.1:c.4451C>G NP_001394548.1:p.Thr1484Ser missense NM_001407620.1:c.4451C>G NP_001394549.1:p.Thr1484Ser missense NM_001407621.1:c.4451C>G NP_001394550.1:p.Thr1484Ser missense NM_001407622.1:c.4451C>G NP_001394551.1:p.Thr1484Ser missense NM_001407623.1:c.4451C>G NP_001394552.1:p.Thr1484Ser missense NM_001407624.1:c.4451C>G NP_001394553.1:p.Thr1484Ser missense NM_001407625.1:c.4451C>G NP_001394554.1:p.Thr1484Ser missense NM_001407626.1:c.4451C>G NP_001394555.1:p.Thr1484Ser missense NM_001407627.1:c.4448C>G NP_001394556.1:p.Thr1483Ser missense NM_001407628.1:c.4448C>G NP_001394557.1:p.Thr1483Ser missense NM_001407629.1:c.4448C>G NP_001394558.1:p.Thr1483Ser missense NM_001407630.1:c.4448C>G NP_001394559.1:p.Thr1483Ser missense NM_001407631.1:c.4448C>G NP_001394560.1:p.Thr1483Ser missense NM_001407632.1:c.4448C>G NP_001394561.1:p.Thr1483Ser missense NM_001407633.1:c.4448C>G NP_001394562.1:p.Thr1483Ser missense NM_001407634.1:c.4448C>G NP_001394563.1:p.Thr1483Ser missense NM_001407635.1:c.4448C>G NP_001394564.1:p.Thr1483Ser missense NM_001407636.1:c.4448C>G NP_001394565.1:p.Thr1483Ser missense NM_001407637.1:c.4448C>G NP_001394566.1:p.Thr1483Ser missense NM_001407638.1:c.4448C>G NP_001394567.1:p.Thr1483Ser missense NM_001407639.1:c.4448C>G NP_001394568.1:p.Thr1483Ser missense NM_001407640.1:c.4448C>G NP_001394569.1:p.Thr1483Ser missense NM_001407641.1:c.4448C>G NP_001394570.1:p.Thr1483Ser missense NM_001407642.1:c.4448C>G NP_001394571.1:p.Thr1483Ser missense NM_001407644.1:c.4445C>G NP_001394573.1:p.Thr1482Ser missense NM_001407645.1:c.4445C>G NP_001394574.1:p.Thr1482Ser missense NM_001407646.1:c.4442C>G NP_001394575.1:p.Thr1481Ser missense NM_001407647.1:c.4439C>G NP_001394576.1:p.Thr1480Ser missense NM_001407648.1:c.4397C>G NP_001394577.1:p.Thr1466Ser missense NM_001407649.1:c.4394C>G NP_001394578.1:p.Thr1465Ser missense NM_001407652.1:c.4454C>G NP_001394581.1:p.Thr1485Ser missense NM_001407653.1:c.4376C>G NP_001394582.1:p.Thr1459Ser missense NM_001407654.1:c.4376C>G NP_001394583.1:p.Thr1459Ser missense NM_001407655.1:c.4376C>G NP_001394584.1:p.Thr1459Ser missense NM_001407656.1:c.4373C>G NP_001394585.1:p.Thr1458Ser missense NM_001407657.1:c.4373C>G NP_001394586.1:p.Thr1458Ser missense NM_001407658.1:c.4373C>G NP_001394587.1:p.Thr1458Ser missense NM_001407659.1:c.4370C>G NP_001394588.1:p.Thr1457Ser missense NM_001407660.1:c.4370C>G NP_001394589.1:p.Thr1457Ser missense NM_001407661.1:c.4370C>G NP_001394590.1:p.Thr1457Ser missense NM_001407662.1:c.4370C>G NP_001394591.1:p.Thr1457Ser missense NM_001407663.1:c.4370C>G NP_001394592.1:p.Thr1457Ser missense NM_001407664.1:c.4331C>G NP_001394593.1:p.Thr1444Ser missense NM_001407665.1:c.4331C>G NP_001394594.1:p.Thr1444Ser missense NM_001407666.1:c.4331C>G NP_001394595.1:p.Thr1444Ser missense NM_001407667.1:c.4331C>G NP_001394596.1:p.Thr1444Ser missense NM_001407668.1:c.4331C>G NP_001394597.1:p.Thr1444Ser missense NM_001407669.1:c.4331C>G NP_001394598.1:p.Thr1444Ser missense NM_001407670.1:c.4328C>G NP_001394599.1:p.Thr1443Ser missense NM_001407671.1:c.4328C>G NP_001394600.1:p.Thr1443Ser missense NM_001407672.1:c.4328C>G NP_001394601.1:p.Thr1443Ser missense NM_001407673.1:c.4328C>G NP_001394602.1:p.Thr1443Ser missense NM_001407674.1:c.4328C>G NP_001394603.1:p.Thr1443Ser missense NM_001407675.1:c.4328C>G NP_001394604.1:p.Thr1443Ser missense NM_001407676.1:c.4328C>G NP_001394605.1:p.Thr1443Ser missense NM_001407677.1:c.4328C>G NP_001394606.1:p.Thr1443Ser missense NM_001407678.1:c.4328C>G NP_001394607.1:p.Thr1443Ser missense NM_001407679.1:c.4328C>G NP_001394608.1:p.Thr1443Ser missense NM_001407680.1:c.4328C>G NP_001394609.1:p.Thr1443Ser missense NM_001407681.1:c.4325C>G NP_001394610.1:p.Thr1442Ser missense NM_001407682.1:c.4325C>G NP_001394611.1:p.Thr1442Ser missense NM_001407683.1:c.4325C>G NP_001394612.1:p.Thr1442Ser missense NM_001407684.1:c.4454C>G NP_001394613.1:p.Thr1485Ser missense NM_001407685.1:c.4325C>G NP_001394614.1:p.Thr1442Ser missense NM_001407686.1:c.4325C>G NP_001394615.1:p.Thr1442Ser missense NM_001407687.1:c.4325C>G NP_001394616.1:p.Thr1442Ser missense NM_001407688.1:c.4325C>G NP_001394617.1:p.Thr1442Ser missense NM_001407689.1:c.4325C>G NP_001394618.1:p.Thr1442Ser missense NM_001407690.1:c.4322C>G NP_001394619.1:p.Thr1441Ser missense NM_001407691.1:c.4322C>G NP_001394620.1:p.Thr1441Ser missense NM_001407692.1:c.4313C>G NP_001394621.1:p.Thr1438Ser missense NM_001407694.1:c.4313C>G NP_001394623.1:p.Thr1438Ser missense NM_001407695.1:c.4313C>G NP_001394624.1:p.Thr1438Ser missense NM_001407696.1:c.4313C>G NP_001394625.1:p.Thr1438Ser missense NM_001407697.1:c.4313C>G NP_001394626.1:p.Thr1438Ser missense NM_001407698.1:c.4313C>G NP_001394627.1:p.Thr1438Ser missense NM_001407724.1:c.4313C>G NP_001394653.1:p.Thr1438Ser missense NM_001407725.1:c.4313C>G NP_001394654.1:p.Thr1438Ser missense NM_001407726.1:c.4313C>G NP_001394655.1:p.Thr1438Ser missense NM_001407727.1:c.4313C>G NP_001394656.1:p.Thr1438Ser missense NM_001407728.1:c.4313C>G NP_001394657.1:p.Thr1438Ser missense NM_001407729.1:c.4313C>G NP_001394658.1:p.Thr1438Ser missense NM_001407730.1:c.4313C>G NP_001394659.1:p.Thr1438Ser missense NM_001407731.1:c.4313C>G NP_001394660.1:p.Thr1438Ser missense NM_001407732.1:c.4310C>G NP_001394661.1:p.Thr1437Ser missense NM_001407733.1:c.4310C>G NP_001394662.1:p.Thr1437Ser missense NM_001407734.1:c.4310C>G NP_001394663.1:p.Thr1437Ser missense NM_001407735.1:c.4310C>G NP_001394664.1:p.Thr1437Ser missense NM_001407736.1:c.4310C>G NP_001394665.1:p.Thr1437Ser missense NM_001407737.1:c.4310C>G NP_001394666.1:p.Thr1437Ser missense NM_001407738.1:c.4310C>G NP_001394667.1:p.Thr1437Ser missense NM_001407739.1:c.4310C>G NP_001394668.1:p.Thr1437Ser missense NM_001407740.1:c.4310C>G NP_001394669.1:p.Thr1437Ser missense NM_001407741.1:c.4310C>G NP_001394670.1:p.Thr1437Ser missense NM_001407742.1:c.4310C>G NP_001394671.1:p.Thr1437Ser missense NM_001407743.1:c.4310C>G NP_001394672.1:p.Thr1437Ser missense NM_001407744.1:c.4310C>G NP_001394673.1:p.Thr1437Ser missense NM_001407745.1:c.4310C>G NP_001394674.1:p.Thr1437Ser missense NM_001407746.1:c.4310C>G NP_001394675.1:p.Thr1437Ser missense NM_001407747.1:c.4310C>G NP_001394676.1:p.Thr1437Ser missense NM_001407748.1:c.4310C>G NP_001394677.1:p.Thr1437Ser missense NM_001407749.1:c.4310C>G NP_001394678.1:p.Thr1437Ser missense NM_001407750.1:c.4310C>G NP_001394679.1:p.Thr1437Ser missense NM_001407751.1:c.4310C>G NP_001394680.1:p.Thr1437Ser missense NM_001407752.1:c.4310C>G NP_001394681.1:p.Thr1437Ser missense NM_001407838.1:c.4307C>G NP_001394767.1:p.Thr1436Ser missense NM_001407839.1:c.4307C>G NP_001394768.1:p.Thr1436Ser missense NM_001407841.1:c.4307C>G NP_001394770.1:p.Thr1436Ser missense NM_001407842.1:c.4307C>G NP_001394771.1:p.Thr1436Ser missense NM_001407843.1:c.4307C>G NP_001394772.1:p.Thr1436Ser missense NM_001407844.1:c.4307C>G NP_001394773.1:p.Thr1436Ser missense NM_001407845.1:c.4307C>G NP_001394774.1:p.Thr1436Ser missense NM_001407846.1:c.4307C>G NP_001394775.1:p.Thr1436Ser missense NM_001407847.1:c.4307C>G NP_001394776.1:p.Thr1436Ser missense NM_001407848.1:c.4307C>G NP_001394777.1:p.Thr1436Ser missense NM_001407849.1:c.4307C>G NP_001394778.1:p.Thr1436Ser missense NM_001407850.1:c.4307C>G NP_001394779.1:p.Thr1436Ser missense NM_001407851.1:c.4307C>G NP_001394780.1:p.Thr1436Ser missense NM_001407852.1:c.4307C>G NP_001394781.1:p.Thr1436Ser missense NM_001407853.1:c.4307C>G NP_001394782.1:p.Thr1436Ser missense NM_001407854.1:c.4454C>G NP_001394783.1:p.Thr1485Ser missense NM_001407858.1:c.4451C>G NP_001394787.1:p.Thr1484Ser missense NM_001407859.1:c.4451C>G NP_001394788.1:p.Thr1484Ser missense NM_001407860.1:c.4451C>G NP_001394789.1:p.Thr1484Ser missense NM_001407861.1:c.4448C>G NP_001394790.1:p.Thr1483Ser missense NM_001407862.1:c.4253C>G NP_001394791.1:p.Thr1418Ser missense NM_001407863.1:c.4328C>G NP_001394792.1:p.Thr1443Ser missense NM_001407874.1:c.4247C>G NP_001394803.1:p.Thr1416Ser missense NM_001407875.1:c.4247C>G NP_001394804.1:p.Thr1416Ser missense NM_001407879.1:c.4244C>G NP_001394808.1:p.Thr1415Ser missense NM_001407881.1:c.4244C>G NP_001394810.1:p.Thr1415Ser missense NM_001407882.1:c.4244C>G NP_001394811.1:p.Thr1415Ser missense NM_001407884.1:c.4244C>G NP_001394813.1:p.Thr1415Ser missense NM_001407885.1:c.4244C>G NP_001394814.1:p.Thr1415Ser missense NM_001407886.1:c.4244C>G NP_001394815.1:p.Thr1415Ser missense NM_001407887.1:c.4244C>G NP_001394816.1:p.Thr1415Ser missense NM_001407889.1:c.4244C>G NP_001394818.1:p.Thr1415Ser missense NM_001407894.1:c.4241C>G NP_001394823.1:p.Thr1414Ser missense NM_001407895.1:c.4241C>G NP_001394824.1:p.Thr1414Ser missense NM_001407896.1:c.4241C>G NP_001394825.1:p.Thr1414Ser missense NM_001407897.1:c.4241C>G NP_001394826.1:p.Thr1414Ser missense NM_001407898.1:c.4241C>G NP_001394827.1:p.Thr1414Ser missense NM_001407899.1:c.4241C>G NP_001394828.1:p.Thr1414Ser missense NM_001407900.1:c.4241C>G NP_001394829.1:p.Thr1414Ser missense NM_001407902.1:c.4241C>G NP_001394831.1:p.Thr1414Ser missense NM_001407904.1:c.4241C>G NP_001394833.1:p.Thr1414Ser missense NM_001407906.1:c.4241C>G NP_001394835.1:p.Thr1414Ser missense NM_001407907.1:c.4241C>G NP_001394836.1:p.Thr1414Ser missense NM_001407908.1:c.4241C>G NP_001394837.1:p.Thr1414Ser missense NM_001407909.1:c.4241C>G NP_001394838.1:p.Thr1414Ser missense NM_001407910.1:c.4241C>G NP_001394839.1:p.Thr1414Ser missense NM_001407915.1:c.4238C>G NP_001394844.1:p.Thr1413Ser missense NM_001407916.1:c.4238C>G NP_001394845.1:p.Thr1413Ser missense NM_001407917.1:c.4238C>G NP_001394846.1:p.Thr1413Ser missense NM_001407918.1:c.4238C>G NP_001394847.1:p.Thr1413Ser missense NM_001407919.1:c.4331C>G NP_001394848.1:p.Thr1444Ser missense NM_001407920.1:c.4190C>G NP_001394849.1:p.Thr1397Ser missense NM_001407921.1:c.4190C>G NP_001394850.1:p.Thr1397Ser missense NM_001407922.1:c.4190C>G NP_001394851.1:p.Thr1397Ser missense NM_001407923.1:c.4190C>G NP_001394852.1:p.Thr1397Ser missense NM_001407924.1:c.4190C>G NP_001394853.1:p.Thr1397Ser missense NM_001407925.1:c.4190C>G NP_001394854.1:p.Thr1397Ser missense NM_001407926.1:c.4190C>G NP_001394855.1:p.Thr1397Ser missense NM_001407927.1:c.4187C>G NP_001394856.1:p.Thr1396Ser missense NM_001407928.1:c.4187C>G NP_001394857.1:p.Thr1396Ser missense NM_001407929.1:c.4187C>G NP_001394858.1:p.Thr1396Ser missense NM_001407930.1:c.4187C>G NP_001394859.1:p.Thr1396Ser missense NM_001407931.1:c.4187C>G NP_001394860.1:p.Thr1396Ser missense NM_001407932.1:c.4187C>G NP_001394861.1:p.Thr1396Ser missense NM_001407933.1:c.4187C>G NP_001394862.1:p.Thr1396Ser missense NM_001407934.1:c.4184C>G NP_001394863.1:p.Thr1395Ser missense NM_001407935.1:c.4184C>G NP_001394864.1:p.Thr1395Ser missense NM_001407936.1:c.4184C>G NP_001394865.1:p.Thr1395Ser missense NM_001407937.1:c.4331C>G NP_001394866.1:p.Thr1444Ser missense NM_001407938.1:c.4331C>G NP_001394867.1:p.Thr1444Ser missense NM_001407939.1:c.4328C>G NP_001394868.1:p.Thr1443Ser missense NM_001407940.1:c.4328C>G NP_001394869.1:p.Thr1443Ser missense NM_001407941.1:c.4325C>G NP_001394870.1:p.Thr1442Ser missense NM_001407942.1:c.4313C>G NP_001394871.1:p.Thr1438Ser missense NM_001407943.1:c.4310C>G NP_001394872.1:p.Thr1437Ser missense NM_001407944.1:c.4310C>G NP_001394873.1:p.Thr1437Ser missense NM_001407945.1:c.4310C>G NP_001394874.1:p.Thr1437Ser missense NM_001407946.1:c.4121C>G NP_001394875.1:p.Thr1374Ser missense NM_001407947.1:c.4121C>G NP_001394876.1:p.Thr1374Ser missense NM_001407948.1:c.4121C>G NP_001394877.1:p.Thr1374Ser missense NM_001407949.1:c.4121C>G NP_001394878.1:p.Thr1374Ser missense NM_001407950.1:c.4118C>G NP_001394879.1:p.Thr1373Ser missense NM_001407951.1:c.4118C>G NP_001394880.1:p.Thr1373Ser missense NM_001407952.1:c.4118C>G NP_001394881.1:p.Thr1373Ser missense NM_001407953.1:c.4118C>G NP_001394882.1:p.Thr1373Ser missense NM_001407954.1:c.4118C>G NP_001394883.1:p.Thr1373Ser missense NM_001407955.1:c.4118C>G NP_001394884.1:p.Thr1373Ser missense NM_001407956.1:c.4115C>G NP_001394885.1:p.Thr1372Ser missense NM_001407957.1:c.4115C>G NP_001394886.1:p.Thr1372Ser missense NM_001407958.1:c.4115C>G NP_001394887.1:p.Thr1372Ser missense NM_001407959.1:c.4073C>G NP_001394888.1:p.Thr1358Ser missense NM_001407960.1:c.4070C>G NP_001394889.1:p.Thr1357Ser missense NM_001407962.1:c.4070C>G NP_001394891.1:p.Thr1357Ser missense NM_001407963.1:c.4067C>G NP_001394892.1:p.Thr1356Ser missense NM_001407965.1:c.3947C>G NP_001394894.1:p.Thr1316Ser missense NM_001407966.1:c.3566C>G NP_001394895.1:p.Thr1189Ser missense NM_001407967.1:c.3563C>G NP_001394896.1:p.Thr1188Ser missense NM_001407968.1:c.1850C>G NP_001394897.1:p.Thr617Ser missense NM_001407969.1:c.1847C>G NP_001394898.1:p.Thr616Ser missense NM_001407970.1:c.1211C>G NP_001394899.1:p.Thr404Ser missense NM_001407971.1:c.1211C>G NP_001394900.1:p.Thr404Ser missense NM_001407972.1:c.1208C>G NP_001394901.1:p.Thr403Ser missense NM_001407973.1:c.1145C>G NP_001394902.1:p.Thr382Ser missense NM_001407974.1:c.1145C>G NP_001394903.1:p.Thr382Ser missense NM_001407975.1:c.1145C>G NP_001394904.1:p.Thr382Ser missense NM_001407976.1:c.1145C>G NP_001394905.1:p.Thr382Ser missense NM_001407977.1:c.1145C>G NP_001394906.1:p.Thr382Ser missense NM_001407978.1:c.1145C>G NP_001394907.1:p.Thr382Ser missense NM_001407979.1:c.1142C>G NP_001394908.1:p.Thr381Ser missense NM_001407980.1:c.1142C>G NP_001394909.1:p.Thr381Ser missense NM_001407981.1:c.1142C>G NP_001394910.1:p.Thr381Ser missense NM_001407982.1:c.1142C>G NP_001394911.1:p.Thr381Ser missense NM_001407983.1:c.1142C>G NP_001394912.1:p.Thr381Ser missense NM_001407984.1:c.1142C>G NP_001394913.1:p.Thr381Ser missense NM_001407985.1:c.1142C>G NP_001394914.1:p.Thr381Ser missense NM_001407986.1:c.1142C>G NP_001394915.1:p.Thr381Ser missense NM_001407990.1:c.1142C>G NP_001394919.1:p.Thr381Ser missense NM_001407991.1:c.1142C>G NP_001394920.1:p.Thr381Ser missense NM_001407992.1:c.1142C>G NP_001394921.1:p.Thr381Ser missense NM_001407993.1:c.1142C>G NP_001394922.1:p.Thr381Ser missense NM_001408392.1:c.1139C>G NP_001395321.1:p.Thr380Ser missense NM_001408396.1:c.1139C>G NP_001395325.1:p.Thr380Ser missense NM_001408397.1:c.1139C>G NP_001395326.1:p.Thr380Ser missense NM_001408398.1:c.1139C>G NP_001395327.1:p.Thr380Ser missense NM_001408399.1:c.1139C>G NP_001395328.1:p.Thr380Ser missense NM_001408400.1:c.1139C>G NP_001395329.1:p.Thr380Ser missense NM_001408401.1:c.1139C>G NP_001395330.1:p.Thr380Ser missense NM_001408402.1:c.1139C>G NP_001395331.1:p.Thr380Ser missense NM_001408403.1:c.1139C>G NP_001395332.1:p.Thr380Ser missense NM_001408404.1:c.1139C>G NP_001395333.1:p.Thr380Ser missense NM_001408406.1:c.1136C>G NP_001395335.1:p.Thr379Ser missense NM_001408407.1:c.1136C>G NP_001395336.1:p.Thr379Ser missense NM_001408408.1:c.1136C>G NP_001395337.1:p.Thr379Ser missense NM_001408409.1:c.1133C>G NP_001395338.1:p.Thr378Ser missense NM_001408410.1:c.1070C>G NP_001395339.1:p.Thr357Ser missense NM_001408411.1:c.1067C>G NP_001395340.1:p.Thr356Ser missense NM_001408412.1:c.1064C>G NP_001395341.1:p.Thr355Ser missense NM_001408413.1:c.1064C>G NP_001395342.1:p.Thr355Ser missense NM_001408414.1:c.1064C>G NP_001395343.1:p.Thr355Ser missense NM_001408415.1:c.1064C>G NP_001395344.1:p.Thr355Ser missense NM_001408416.1:c.1064C>G NP_001395345.1:p.Thr355Ser missense NM_001408418.1:c.1028C>G NP_001395347.1:p.Thr343Ser missense NM_001408419.1:c.1028C>G NP_001395348.1:p.Thr343Ser missense NM_001408420.1:c.1028C>G NP_001395349.1:p.Thr343Ser missense NM_001408421.1:c.1025C>G NP_001395350.1:p.Thr342Ser missense NM_001408422.1:c.1025C>G NP_001395351.1:p.Thr342Ser missense NM_001408423.1:c.1025C>G NP_001395352.1:p.Thr342Ser missense NM_001408424.1:c.1025C>G NP_001395353.1:p.Thr342Ser missense NM_001408425.1:c.1022C>G NP_001395354.1:p.Thr341Ser missense NM_001408426.1:c.1022C>G NP_001395355.1:p.Thr341Ser missense NM_001408427.1:c.1022C>G NP_001395356.1:p.Thr341Ser missense NM_001408428.1:c.1022C>G NP_001395357.1:p.Thr341Ser missense NM_001408429.1:c.1022C>G NP_001395358.1:p.Thr341Ser missense NM_001408430.1:c.1022C>G NP_001395359.1:p.Thr341Ser missense NM_001408431.1:c.1022C>G NP_001395360.1:p.Thr341Ser missense NM_001408432.1:c.1019C>G NP_001395361.1:p.Thr340Ser missense NM_001408433.1:c.1019C>G NP_001395362.1:p.Thr340Ser missense NM_001408434.1:c.1019C>G NP_001395363.1:p.Thr340Ser missense NM_001408435.1:c.1019C>G NP_001395364.1:p.Thr340Ser missense NM_001408436.1:c.1019C>G NP_001395365.1:p.Thr340Ser missense NM_001408437.1:c.1019C>G NP_001395366.1:p.Thr340Ser missense NM_001408438.1:c.1019C>G NP_001395367.1:p.Thr340Ser missense NM_001408439.1:c.1019C>G NP_001395368.1:p.Thr340Ser missense NM_001408440.1:c.1019C>G NP_001395369.1:p.Thr340Ser missense NM_001408441.1:c.1019C>G NP_001395370.1:p.Thr340Ser missense NM_001408442.1:c.1019C>G NP_001395371.1:p.Thr340Ser missense NM_001408443.1:c.1019C>G NP_001395372.1:p.Thr340Ser missense NM_001408444.1:c.1019C>G NP_001395373.1:p.Thr340Ser missense NM_001408445.1:c.1016C>G NP_001395374.1:p.Thr339Ser missense NM_001408446.1:c.1016C>G NP_001395375.1:p.Thr339Ser missense NM_001408447.1:c.1016C>G NP_001395376.1:p.Thr339Ser missense NM_001408448.1:c.1016C>G NP_001395377.1:p.Thr339Ser missense NM_001408450.1:c.1016C>G NP_001395379.1:p.Thr339Ser missense NM_001408451.1:c.1010C>G NP_001395380.1:p.Thr337Ser missense NM_001408452.1:c.1004C>G NP_001395381.1:p.Thr335Ser missense NM_001408453.1:c.1004C>G NP_001395382.1:p.Thr335Ser missense NM_001408454.1:c.1004C>G NP_001395383.1:p.Thr335Ser missense NM_001408455.1:c.1004C>G NP_001395384.1:p.Thr335Ser missense NM_001408456.1:c.1004C>G NP_001395385.1:p.Thr335Ser missense NM_001408457.1:c.1004C>G NP_001395386.1:p.Thr335Ser missense NM_001408458.1:c.1001C>G NP_001395387.1:p.Thr334Ser missense NM_001408459.1:c.1001C>G NP_001395388.1:p.Thr334Ser missense NM_001408460.1:c.1001C>G NP_001395389.1:p.Thr334Ser missense NM_001408461.1:c.1001C>G NP_001395390.1:p.Thr334Ser missense NM_001408462.1:c.1001C>G NP_001395391.1:p.Thr334Ser missense NM_001408463.1:c.1001C>G NP_001395392.1:p.Thr334Ser missense NM_001408464.1:c.1001C>G NP_001395393.1:p.Thr334Ser missense NM_001408465.1:c.1001C>G NP_001395394.1:p.Thr334Ser missense NM_001408466.1:c.1001C>G NP_001395395.1:p.Thr334Ser missense NM_001408467.1:c.1001C>G NP_001395396.1:p.Thr334Ser missense NM_001408468.1:c.998C>G NP_001395397.1:p.Thr333Ser missense NM_001408469.1:c.998C>G NP_001395398.1:p.Thr333Ser missense NM_001408470.1:c.998C>G NP_001395399.1:p.Thr333Ser missense NM_001408472.1:c.1142C>G NP_001395401.1:p.Thr381Ser missense NM_001408473.1:c.1139C>G NP_001395402.1:p.Thr380Ser missense NM_001408474.1:c.944C>G NP_001395403.1:p.Thr315Ser missense NM_001408475.1:c.941C>G NP_001395404.1:p.Thr314Ser missense NM_001408476.1:c.941C>G NP_001395405.1:p.Thr314Ser missense NM_001408478.1:c.935C>G NP_001395407.1:p.Thr312Ser missense NM_001408479.1:c.935C>G NP_001395408.1:p.Thr312Ser missense NM_001408480.1:c.935C>G NP_001395409.1:p.Thr312Ser missense NM_001408481.1:c.932C>G NP_001395410.1:p.Thr311Ser missense NM_001408482.1:c.932C>G NP_001395411.1:p.Thr311Ser missense NM_001408483.1:c.932C>G NP_001395412.1:p.Thr311Ser missense NM_001408484.1:c.932C>G NP_001395413.1:p.Thr311Ser missense NM_001408485.1:c.932C>G NP_001395414.1:p.Thr311Ser missense NM_001408489.1:c.932C>G NP_001395418.1:p.Thr311Ser missense NM_001408490.1:c.932C>G NP_001395419.1:p.Thr311Ser missense NM_001408491.1:c.932C>G NP_001395420.1:p.Thr311Ser missense NM_001408492.1:c.929C>G NP_001395421.1:p.Thr310Ser missense NM_001408493.1:c.929C>G NP_001395422.1:p.Thr310Ser missense NM_001408494.1:c.905C>G NP_001395423.1:p.Thr302Ser missense NM_001408495.1:c.899C>G NP_001395424.1:p.Thr300Ser missense NM_001408496.1:c.881C>G NP_001395425.1:p.Thr294Ser missense NM_001408497.1:c.881C>G NP_001395426.1:p.Thr294Ser missense NM_001408498.1:c.881C>G NP_001395427.1:p.Thr294Ser missense NM_001408499.1:c.881C>G NP_001395428.1:p.Thr294Ser missense NM_001408500.1:c.881C>G NP_001395429.1:p.Thr294Ser missense NM_001408501.1:c.881C>G NP_001395430.1:p.Thr294Ser missense NM_001408502.1:c.878C>G NP_001395431.1:p.Thr293Ser missense NM_001408503.1:c.878C>G NP_001395432.1:p.Thr293Ser missense NM_001408504.1:c.878C>G NP_001395433.1:p.Thr293Ser missense NM_001408505.1:c.875C>G NP_001395434.1:p.Thr292Ser missense NM_001408506.1:c.818C>G NP_001395435.1:p.Thr273Ser missense NM_001408507.1:c.815C>G NP_001395436.1:p.Thr272Ser missense NM_001408508.1:c.806C>G NP_001395437.1:p.Thr269Ser missense NM_001408509.1:c.803C>G NP_001395438.1:p.Thr268Ser missense NM_001408510.1:c.764C>G NP_001395439.1:p.Thr255Ser missense NM_001408511.1:c.761C>G NP_001395440.1:p.Thr254Ser missense NM_001408512.1:c.641C>G NP_001395441.1:p.Thr214Ser missense NM_007297.4:c.4313C>G NP_009228.2:p.Thr1438Ser missense NM_007298.4:c.1142C>G NP_009229.2:p.Thr381Ser missense NM_007299.4:c.1142C>G NP_009230.2:p.Thr381Ser missense NM_007300.4:c.4517C>G NP_009231.2:p.Thr1506Ser missense NM_007304.2:c.1142C>G NP_009235.2:p.Thr381Ser missense NR_027676.2:n.4631C>G non-coding transcript variant NC_000017.11:g.43076518G>C NC_000017.10:g.41228535G>C NG_005905.2:g.141466C>G LRG_292:g.141466C>G LRG_292t1:c.4454C>G LRG_292p1:p.Thr1485Ser - Protein change
- T1438S, T381S, T1485S, T1506S, T1356S, T1374S, T1415S, T1437S, T1457S, T1505S, T1507S, T293S, T311S, T312S, T355S, T379S, T1316S, T1358S, T1373S, T1397S, T1413S, T1418S, T1436S, T1442S, T1466S, T254S, T255S, T269S, T292S, T300S, T314S, T340S, T341S, T342S, T382S, T404S, T1357S, T1372S, T1414S, T1444S, T1458S, T1459S, T1480S, T1484S, T214S, T268S, T272S, T273S, T302S, T310S, T315S, T334S, T335S, T343S, T378S, T380S, T616S, T617S, T1188S, T1189S, T1395S, T1396S, T1416S, T1441S, T1443S, T1465S, T1481S, T1482S, T1483S, T294S, T333S, T337S, T339S, T356S, T357S, T403S
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076517:G:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13040 | 14846 | |
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
|
May 18, 2019 | RCV001062387.8 |
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
(May 18, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001227184.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The … (more)
Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 1485 of the BRCA1 protein (p.Thr1485Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 1485 of the BRCA1 protein (p.Thr1485Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs80356870 ...
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 Sep 29, 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.