ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
Variation ID: 55245 Accession: VCV000055245.67
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074370 (GRCh38) [ NCBI UCSC ] 17: 41226387 (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 1, 2014 Jun 17, 2024 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4636G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1546Asn missense NM_001407571.1:c.4423G>A NP_001394500.1:p.Asp1475Asn missense NM_001407581.1:c.4702G>A NP_001394510.1:p.Asp1568Asn missense NM_001407582.1:c.4702G>A NP_001394511.1:p.Asp1568Asn missense NM_001407583.1:c.4699G>A NP_001394512.1:p.Asp1567Asn missense NM_001407585.1:c.4699G>A NP_001394514.1:p.Asp1567Asn missense NM_001407587.1:c.4699G>A NP_001394516.1:p.Asp1567Asn missense NM_001407590.1:c.4696G>A NP_001394519.1:p.Asp1566Asn missense NM_001407591.1:c.4696G>A NP_001394520.1:p.Asp1566Asn missense NM_001407593.1:c.4636G>A NP_001394522.1:p.Asp1546Asn missense NM_001407594.1:c.4636G>A NP_001394523.1:p.Asp1546Asn missense NM_001407596.1:c.4636G>A NP_001394525.1:p.Asp1546Asn missense NM_001407597.1:c.4636G>A NP_001394526.1:p.Asp1546Asn missense NM_001407598.1:c.4636G>A NP_001394527.1:p.Asp1546Asn missense NM_001407602.1:c.4636G>A NP_001394531.1:p.Asp1546Asn missense NM_001407603.1:c.4636G>A NP_001394532.1:p.Asp1546Asn missense NM_001407605.1:c.4636G>A NP_001394534.1:p.Asp1546Asn missense NM_001407610.1:c.4633G>A NP_001394539.1:p.Asp1545Asn missense NM_001407611.1:c.4633G>A NP_001394540.1:p.Asp1545Asn missense NM_001407612.1:c.4633G>A NP_001394541.1:p.Asp1545Asn missense NM_001407613.1:c.4633G>A NP_001394542.1:p.Asp1545Asn missense NM_001407614.1:c.4633G>A NP_001394543.1:p.Asp1545Asn missense NM_001407615.1:c.4633G>A NP_001394544.1:p.Asp1545Asn missense NM_001407616.1:c.4633G>A NP_001394545.1:p.Asp1545Asn missense NM_001407617.1:c.4633G>A NP_001394546.1:p.Asp1545Asn missense NM_001407618.1:c.4633G>A NP_001394547.1:p.Asp1545Asn missense NM_001407619.1:c.4633G>A NP_001394548.1:p.Asp1545Asn missense NM_001407620.1:c.4633G>A NP_001394549.1:p.Asp1545Asn missense NM_001407621.1:c.4633G>A NP_001394550.1:p.Asp1545Asn missense NM_001407622.1:c.4633G>A NP_001394551.1:p.Asp1545Asn missense NM_001407623.1:c.4633G>A NP_001394552.1:p.Asp1545Asn missense NM_001407624.1:c.4633G>A NP_001394553.1:p.Asp1545Asn missense NM_001407625.1:c.4633G>A NP_001394554.1:p.Asp1545Asn missense NM_001407626.1:c.4633G>A NP_001394555.1:p.Asp1545Asn missense NM_001407627.1:c.4630G>A NP_001394556.1:p.Asp1544Asn missense NM_001407628.1:c.4630G>A NP_001394557.1:p.Asp1544Asn missense NM_001407629.1:c.4630G>A NP_001394558.1:p.Asp1544Asn missense NM_001407630.1:c.4630G>A NP_001394559.1:p.Asp1544Asn missense NM_001407631.1:c.4630G>A NP_001394560.1:p.Asp1544Asn missense NM_001407632.1:c.4630G>A NP_001394561.1:p.Asp1544Asn missense NM_001407633.1:c.4630G>A NP_001394562.1:p.Asp1544Asn missense NM_001407634.1:c.4630G>A NP_001394563.1:p.Asp1544Asn missense NM_001407635.1:c.4630G>A NP_001394564.1:p.Asp1544Asn missense NM_001407636.1:c.4630G>A NP_001394565.1:p.Asp1544Asn missense NM_001407637.1:c.4630G>A NP_001394566.1:p.Asp1544Asn missense NM_001407638.1:c.4630G>A NP_001394567.1:p.Asp1544Asn missense NM_001407639.1:c.4630G>A NP_001394568.1:p.Asp1544Asn missense NM_001407640.1:c.4630G>A NP_001394569.1:p.Asp1544Asn missense NM_001407641.1:c.4630G>A NP_001394570.1:p.Asp1544Asn missense NM_001407642.1:c.4630G>A NP_001394571.1:p.Asp1544Asn missense NM_001407644.1:c.4627G>A NP_001394573.1:p.Asp1543Asn missense NM_001407645.1:c.4627G>A NP_001394574.1:p.Asp1543Asn missense NM_001407646.1:c.4624G>A NP_001394575.1:p.Asp1542Asn missense NM_001407647.1:c.4621G>A NP_001394576.1:p.Asp1541Asn missense NM_001407648.1:c.4579G>A NP_001394577.1:p.Asp1527Asn missense NM_001407649.1:c.4576G>A NP_001394578.1:p.Asp1526Asn missense NM_001407652.1:c.4636G>A NP_001394581.1:p.Asp1546Asn missense NM_001407653.1:c.4558G>A NP_001394582.1:p.Asp1520Asn missense NM_001407654.1:c.4558G>A NP_001394583.1:p.Asp1520Asn missense NM_001407655.1:c.4558G>A NP_001394584.1:p.Asp1520Asn missense NM_001407656.1:c.4555G>A NP_001394585.1:p.Asp1519Asn missense NM_001407657.1:c.4555G>A NP_001394586.1:p.Asp1519Asn missense NM_001407658.1:c.4555G>A NP_001394587.1:p.Asp1519Asn missense NM_001407659.1:c.4552G>A NP_001394588.1:p.Asp1518Asn missense NM_001407660.1:c.4552G>A NP_001394589.1:p.Asp1518Asn missense NM_001407661.1:c.4552G>A NP_001394590.1:p.Asp1518Asn missense NM_001407662.1:c.4552G>A NP_001394591.1:p.Asp1518Asn missense NM_001407663.1:c.4552G>A NP_001394592.1:p.Asp1518Asn missense NM_001407664.1:c.4513G>A NP_001394593.1:p.Asp1505Asn missense NM_001407665.1:c.4513G>A NP_001394594.1:p.Asp1505Asn missense NM_001407666.1:c.4513G>A NP_001394595.1:p.Asp1505Asn missense NM_001407667.1:c.4513G>A NP_001394596.1:p.Asp1505Asn missense NM_001407668.1:c.4513G>A NP_001394597.1:p.Asp1505Asn missense NM_001407669.1:c.4513G>A NP_001394598.1:p.Asp1505Asn missense NM_001407670.1:c.4510G>A NP_001394599.1:p.Asp1504Asn missense NM_001407671.1:c.4510G>A NP_001394600.1:p.Asp1504Asn missense NM_001407672.1:c.4510G>A NP_001394601.1:p.Asp1504Asn missense NM_001407673.1:c.4510G>A NP_001394602.1:p.Asp1504Asn missense NM_001407674.1:c.4510G>A NP_001394603.1:p.Asp1504Asn missense NM_001407675.1:c.4510G>A NP_001394604.1:p.Asp1504Asn missense NM_001407676.1:c.4510G>A NP_001394605.1:p.Asp1504Asn missense NM_001407677.1:c.4510G>A NP_001394606.1:p.Asp1504Asn missense NM_001407678.1:c.4510G>A NP_001394607.1:p.Asp1504Asn missense NM_001407679.1:c.4510G>A NP_001394608.1:p.Asp1504Asn missense NM_001407680.1:c.4510G>A NP_001394609.1:p.Asp1504Asn missense NM_001407681.1:c.4507G>A NP_001394610.1:p.Asp1503Asn missense NM_001407682.1:c.4507G>A NP_001394611.1:p.Asp1503Asn missense NM_001407683.1:c.4507G>A NP_001394612.1:p.Asp1503Asn missense NM_001407684.1:c.4636G>A NP_001394613.1:p.Asp1546Asn missense NM_001407685.1:c.4507G>A NP_001394614.1:p.Asp1503Asn missense NM_001407686.1:c.4507G>A NP_001394615.1:p.Asp1503Asn missense NM_001407687.1:c.4507G>A NP_001394616.1:p.Asp1503Asn missense NM_001407688.1:c.4507G>A NP_001394617.1:p.Asp1503Asn missense NM_001407689.1:c.4507G>A NP_001394618.1:p.Asp1503Asn missense NM_001407690.1:c.4504G>A NP_001394619.1:p.Asp1502Asn missense NM_001407691.1:c.4504G>A NP_001394620.1:p.Asp1502Asn missense NM_001407692.1:c.4495G>A NP_001394621.1:p.Asp1499Asn missense NM_001407694.1:c.4495G>A NP_001394623.1:p.Asp1499Asn missense NM_001407695.1:c.4495G>A NP_001394624.1:p.Asp1499Asn missense NM_001407696.1:c.4495G>A NP_001394625.1:p.Asp1499Asn missense NM_001407697.1:c.4495G>A NP_001394626.1:p.Asp1499Asn missense NM_001407698.1:c.4495G>A NP_001394627.1:p.Asp1499Asn missense NM_001407724.1:c.4495G>A NP_001394653.1:p.Asp1499Asn missense NM_001407725.1:c.4495G>A NP_001394654.1:p.Asp1499Asn missense NM_001407726.1:c.4495G>A NP_001394655.1:p.Asp1499Asn missense NM_001407727.1:c.4495G>A NP_001394656.1:p.Asp1499Asn missense NM_001407728.1:c.4495G>A NP_001394657.1:p.Asp1499Asn missense NM_001407729.1:c.4495G>A NP_001394658.1:p.Asp1499Asn missense NM_001407730.1:c.4495G>A NP_001394659.1:p.Asp1499Asn missense NM_001407731.1:c.4495G>A NP_001394660.1:p.Asp1499Asn missense NM_001407732.1:c.4492G>A NP_001394661.1:p.Asp1498Asn missense NM_001407733.1:c.4492G>A NP_001394662.1:p.Asp1498Asn missense NM_001407734.1:c.4492G>A NP_001394663.1:p.Asp1498Asn missense NM_001407735.1:c.4492G>A NP_001394664.1:p.Asp1498Asn missense NM_001407736.1:c.4492G>A NP_001394665.1:p.Asp1498Asn missense NM_001407737.1:c.4492G>A NP_001394666.1:p.Asp1498Asn missense NM_001407738.1:c.4492G>A NP_001394667.1:p.Asp1498Asn missense NM_001407739.1:c.4492G>A NP_001394668.1:p.Asp1498Asn missense NM_001407740.1:c.4492G>A NP_001394669.1:p.Asp1498Asn missense NM_001407741.1:c.4492G>A NP_001394670.1:p.Asp1498Asn missense NM_001407742.1:c.4492G>A NP_001394671.1:p.Asp1498Asn missense NM_001407743.1:c.4492G>A NP_001394672.1:p.Asp1498Asn missense NM_001407744.1:c.4492G>A NP_001394673.1:p.Asp1498Asn missense NM_001407745.1:c.4492G>A NP_001394674.1:p.Asp1498Asn missense NM_001407746.1:c.4492G>A NP_001394675.1:p.Asp1498Asn missense NM_001407747.1:c.4492G>A NP_001394676.1:p.Asp1498Asn missense NM_001407748.1:c.4492G>A NP_001394677.1:p.Asp1498Asn missense NM_001407749.1:c.4492G>A NP_001394678.1:p.Asp1498Asn missense NM_001407750.1:c.4492G>A NP_001394679.1:p.Asp1498Asn missense NM_001407751.1:c.4492G>A NP_001394680.1:p.Asp1498Asn missense NM_001407752.1:c.4492G>A NP_001394681.1:p.Asp1498Asn missense NM_001407838.1:c.4489G>A NP_001394767.1:p.Asp1497Asn missense NM_001407839.1:c.4489G>A NP_001394768.1:p.Asp1497Asn missense NM_001407841.1:c.4489G>A NP_001394770.1:p.Asp1497Asn missense NM_001407842.1:c.4489G>A NP_001394771.1:p.Asp1497Asn missense NM_001407843.1:c.4489G>A NP_001394772.1:p.Asp1497Asn missense NM_001407844.1:c.4489G>A NP_001394773.1:p.Asp1497Asn missense NM_001407845.1:c.4489G>A NP_001394774.1:p.Asp1497Asn missense NM_001407846.1:c.4489G>A NP_001394775.1:p.Asp1497Asn missense NM_001407847.1:c.4489G>A NP_001394776.1:p.Asp1497Asn missense NM_001407848.1:c.4489G>A NP_001394777.1:p.Asp1497Asn missense NM_001407849.1:c.4489G>A NP_001394778.1:p.Asp1497Asn missense NM_001407850.1:c.4489G>A NP_001394779.1:p.Asp1497Asn missense NM_001407851.1:c.4489G>A NP_001394780.1:p.Asp1497Asn missense NM_001407852.1:c.4489G>A NP_001394781.1:p.Asp1497Asn missense NM_001407853.1:c.4489G>A NP_001394782.1:p.Asp1497Asn missense NM_001407854.1:c.4636G>A NP_001394783.1:p.Asp1546Asn missense NM_001407858.1:c.4633G>A NP_001394787.1:p.Asp1545Asn missense NM_001407859.1:c.4633G>A NP_001394788.1:p.Asp1545Asn missense NM_001407860.1:c.4633G>A NP_001394789.1:p.Asp1545Asn missense NM_001407861.1:c.4630G>A NP_001394790.1:p.Asp1544Asn missense NM_001407862.1:c.4435G>A NP_001394791.1:p.Asp1479Asn missense NM_001407863.1:c.4510G>A NP_001394792.1:p.Asp1504Asn missense NM_001407874.1:c.4429G>A NP_001394803.1:p.Asp1477Asn missense NM_001407875.1:c.4429G>A NP_001394804.1:p.Asp1477Asn missense NM_001407879.1:c.4426G>A NP_001394808.1:p.Asp1476Asn missense NM_001407881.1:c.4426G>A NP_001394810.1:p.Asp1476Asn missense NM_001407882.1:c.4426G>A NP_001394811.1:p.Asp1476Asn missense NM_001407884.1:c.4426G>A NP_001394813.1:p.Asp1476Asn missense NM_001407885.1:c.4426G>A NP_001394814.1:p.Asp1476Asn missense NM_001407886.1:c.4426G>A NP_001394815.1:p.Asp1476Asn missense NM_001407887.1:c.4426G>A NP_001394816.1:p.Asp1476Asn missense NM_001407889.1:c.4426G>A NP_001394818.1:p.Asp1476Asn missense NM_001407894.1:c.4423G>A NP_001394823.1:p.Asp1475Asn missense NM_001407895.1:c.4423G>A NP_001394824.1:p.Asp1475Asn missense NM_001407896.1:c.4423G>A NP_001394825.1:p.Asp1475Asn missense NM_001407897.1:c.4423G>A NP_001394826.1:p.Asp1475Asn missense NM_001407898.1:c.4423G>A NP_001394827.1:p.Asp1475Asn missense NM_001407899.1:c.4423G>A NP_001394828.1:p.Asp1475Asn missense NM_001407900.1:c.4423G>A NP_001394829.1:p.Asp1475Asn missense NM_001407902.1:c.4423G>A NP_001394831.1:p.Asp1475Asn missense NM_001407904.1:c.4423G>A NP_001394833.1:p.Asp1475Asn missense NM_001407906.1:c.4423G>A NP_001394835.1:p.Asp1475Asn missense NM_001407907.1:c.4423G>A NP_001394836.1:p.Asp1475Asn missense NM_001407908.1:c.4423G>A NP_001394837.1:p.Asp1475Asn missense NM_001407909.1:c.4423G>A NP_001394838.1:p.Asp1475Asn missense NM_001407910.1:c.4423G>A NP_001394839.1:p.Asp1475Asn missense NM_001407915.1:c.4420G>A NP_001394844.1:p.Asp1474Asn missense NM_001407916.1:c.4420G>A NP_001394845.1:p.Asp1474Asn missense NM_001407917.1:c.4420G>A NP_001394846.1:p.Asp1474Asn missense NM_001407918.1:c.4420G>A NP_001394847.1:p.Asp1474Asn missense NM_001407919.1:c.4513G>A NP_001394848.1:p.Asp1505Asn missense NM_001407920.1:c.4372G>A NP_001394849.1:p.Asp1458Asn missense NM_001407921.1:c.4372G>A NP_001394850.1:p.Asp1458Asn missense NM_001407922.1:c.4372G>A NP_001394851.1:p.Asp1458Asn missense NM_001407923.1:c.4372G>A NP_001394852.1:p.Asp1458Asn missense NM_001407924.1:c.4372G>A NP_001394853.1:p.Asp1458Asn missense NM_001407925.1:c.4372G>A NP_001394854.1:p.Asp1458Asn missense NM_001407926.1:c.4372G>A NP_001394855.1:p.Asp1458Asn missense NM_001407927.1:c.4369G>A NP_001394856.1:p.Asp1457Asn missense NM_001407928.1:c.4369G>A NP_001394857.1:p.Asp1457Asn missense NM_001407929.1:c.4369G>A NP_001394858.1:p.Asp1457Asn missense NM_001407930.1:c.4369G>A NP_001394859.1:p.Asp1457Asn missense NM_001407931.1:c.4369G>A NP_001394860.1:p.Asp1457Asn missense NM_001407932.1:c.4369G>A NP_001394861.1:p.Asp1457Asn missense NM_001407933.1:c.4369G>A NP_001394862.1:p.Asp1457Asn missense NM_001407934.1:c.4366G>A NP_001394863.1:p.Asp1456Asn missense NM_001407935.1:c.4366G>A NP_001394864.1:p.Asp1456Asn missense NM_001407936.1:c.4366G>A NP_001394865.1:p.Asp1456Asn missense NM_001407937.1:c.4513G>A NP_001394866.1:p.Asp1505Asn missense NM_001407938.1:c.4513G>A NP_001394867.1:p.Asp1505Asn missense NM_001407939.1:c.4510G>A NP_001394868.1:p.Asp1504Asn missense NM_001407940.1:c.4510G>A NP_001394869.1:p.Asp1504Asn missense NM_001407941.1:c.4507G>A NP_001394870.1:p.Asp1503Asn missense NM_001407942.1:c.4495G>A NP_001394871.1:p.Asp1499Asn missense NM_001407943.1:c.4492G>A NP_001394872.1:p.Asp1498Asn missense NM_001407944.1:c.4492G>A NP_001394873.1:p.Asp1498Asn missense NM_001407945.1:c.4492G>A NP_001394874.1:p.Asp1498Asn missense NM_001407946.1:c.4303G>A NP_001394875.1:p.Asp1435Asn missense NM_001407947.1:c.4303G>A NP_001394876.1:p.Asp1435Asn missense NM_001407948.1:c.4303G>A NP_001394877.1:p.Asp1435Asn missense NM_001407949.1:c.4303G>A NP_001394878.1:p.Asp1435Asn missense NM_001407950.1:c.4300G>A NP_001394879.1:p.Asp1434Asn missense NM_001407951.1:c.4300G>A NP_001394880.1:p.Asp1434Asn missense NM_001407952.1:c.4300G>A NP_001394881.1:p.Asp1434Asn missense NM_001407953.1:c.4300G>A NP_001394882.1:p.Asp1434Asn missense NM_001407954.1:c.4300G>A NP_001394883.1:p.Asp1434Asn missense NM_001407955.1:c.4300G>A NP_001394884.1:p.Asp1434Asn missense NM_001407956.1:c.4297G>A NP_001394885.1:p.Asp1433Asn missense NM_001407957.1:c.4297G>A NP_001394886.1:p.Asp1433Asn missense NM_001407958.1:c.4297G>A NP_001394887.1:p.Asp1433Asn missense NM_001407959.1:c.4255G>A NP_001394888.1:p.Asp1419Asn missense NM_001407960.1:c.4252G>A NP_001394889.1:p.Asp1418Asn missense NM_001407962.1:c.4252G>A NP_001394891.1:p.Asp1418Asn missense NM_001407963.1:c.4249G>A NP_001394892.1:p.Asp1417Asn missense NM_001407965.1:c.4129G>A NP_001394894.1:p.Asp1377Asn missense NM_001407966.1:c.3748G>A NP_001394895.1:p.Asp1250Asn missense NM_001407967.1:c.3745G>A NP_001394896.1:p.Asp1249Asn missense NM_001407968.1:c.2032G>A NP_001394897.1:p.Asp678Asn missense NM_001407969.1:c.2029G>A NP_001394898.1:p.Asp677Asn missense NM_001407970.1:c.1393G>A NP_001394899.1:p.Asp465Asn missense NM_001407971.1:c.1393G>A NP_001394900.1:p.Asp465Asn missense NM_001407972.1:c.1390G>A NP_001394901.1:p.Asp464Asn missense NM_001407973.1:c.1327G>A NP_001394902.1:p.Asp443Asn missense NM_001407974.1:c.1327G>A NP_001394903.1:p.Asp443Asn missense NM_001407975.1:c.1327G>A NP_001394904.1:p.Asp443Asn missense NM_001407976.1:c.1327G>A NP_001394905.1:p.Asp443Asn missense NM_001407977.1:c.1327G>A NP_001394906.1:p.Asp443Asn missense NM_001407978.1:c.1327G>A NP_001394907.1:p.Asp443Asn missense NM_001407979.1:c.1324G>A NP_001394908.1:p.Asp442Asn missense NM_001407980.1:c.1324G>A NP_001394909.1:p.Asp442Asn missense NM_001407981.1:c.1324G>A NP_001394910.1:p.Asp442Asn missense NM_001407982.1:c.1324G>A NP_001394911.1:p.Asp442Asn missense NM_001407983.1:c.1324G>A NP_001394912.1:p.Asp442Asn missense NM_001407984.1:c.1324G>A NP_001394913.1:p.Asp442Asn missense NM_001407985.1:c.1324G>A NP_001394914.1:p.Asp442Asn missense NM_001407986.1:c.1324G>A NP_001394915.1:p.Asp442Asn missense NM_001407990.1:c.1324G>A NP_001394919.1:p.Asp442Asn missense NM_001407991.1:c.1324G>A NP_001394920.1:p.Asp442Asn missense NM_001407992.1:c.1324G>A NP_001394921.1:p.Asp442Asn missense NM_001407993.1:c.1324G>A NP_001394922.1:p.Asp442Asn missense NM_001408392.1:c.1321G>A NP_001395321.1:p.Asp441Asn missense NM_001408396.1:c.1321G>A NP_001395325.1:p.Asp441Asn missense NM_001408397.1:c.1321G>A NP_001395326.1:p.Asp441Asn missense NM_001408398.1:c.1321G>A NP_001395327.1:p.Asp441Asn missense NM_001408399.1:c.1321G>A NP_001395328.1:p.Asp441Asn missense NM_001408400.1:c.1321G>A NP_001395329.1:p.Asp441Asn missense NM_001408401.1:c.1321G>A NP_001395330.1:p.Asp441Asn missense NM_001408402.1:c.1321G>A NP_001395331.1:p.Asp441Asn missense NM_001408403.1:c.1321G>A NP_001395332.1:p.Asp441Asn missense NM_001408404.1:c.1321G>A NP_001395333.1:p.Asp441Asn missense NM_001408406.1:c.1318G>A NP_001395335.1:p.Asp440Asn missense NM_001408407.1:c.1318G>A NP_001395336.1:p.Asp440Asn missense NM_001408408.1:c.1318G>A NP_001395337.1:p.Asp440Asn missense NM_001408409.1:c.1315G>A NP_001395338.1:p.Asp439Asn missense NM_001408410.1:c.1252G>A NP_001395339.1:p.Asp418Asn missense NM_001408411.1:c.1249G>A NP_001395340.1:p.Asp417Asn missense NM_001408412.1:c.1246G>A NP_001395341.1:p.Asp416Asn missense NM_001408413.1:c.1246G>A NP_001395342.1:p.Asp416Asn missense NM_001408414.1:c.1246G>A NP_001395343.1:p.Asp416Asn missense NM_001408415.1:c.1246G>A NP_001395344.1:p.Asp416Asn missense NM_001408416.1:c.1246G>A NP_001395345.1:p.Asp416Asn missense NM_001408418.1:c.1210G>A NP_001395347.1:p.Asp404Asn missense NM_001408419.1:c.1210G>A NP_001395348.1:p.Asp404Asn missense NM_001408420.1:c.1210G>A NP_001395349.1:p.Asp404Asn missense NM_001408421.1:c.1207G>A NP_001395350.1:p.Asp403Asn missense NM_001408422.1:c.1207G>A NP_001395351.1:p.Asp403Asn missense NM_001408423.1:c.1207G>A NP_001395352.1:p.Asp403Asn missense NM_001408424.1:c.1207G>A NP_001395353.1:p.Asp403Asn missense NM_001408425.1:c.1204G>A NP_001395354.1:p.Asp402Asn missense NM_001408426.1:c.1204G>A NP_001395355.1:p.Asp402Asn missense NM_001408427.1:c.1204G>A NP_001395356.1:p.Asp402Asn missense NM_001408428.1:c.1204G>A NP_001395357.1:p.Asp402Asn missense NM_001408429.1:c.1204G>A NP_001395358.1:p.Asp402Asn missense NM_001408430.1:c.1204G>A NP_001395359.1:p.Asp402Asn missense NM_001408431.1:c.1204G>A NP_001395360.1:p.Asp402Asn missense NM_001408432.1:c.1201G>A NP_001395361.1:p.Asp401Asn missense NM_001408433.1:c.1201G>A NP_001395362.1:p.Asp401Asn missense NM_001408434.1:c.1201G>A NP_001395363.1:p.Asp401Asn missense NM_001408435.1:c.1201G>A NP_001395364.1:p.Asp401Asn missense NM_001408436.1:c.1201G>A NP_001395365.1:p.Asp401Asn missense NM_001408437.1:c.1201G>A NP_001395366.1:p.Asp401Asn missense NM_001408438.1:c.1201G>A NP_001395367.1:p.Asp401Asn missense NM_001408439.1:c.1201G>A NP_001395368.1:p.Asp401Asn missense NM_001408440.1:c.1201G>A NP_001395369.1:p.Asp401Asn missense NM_001408441.1:c.1201G>A NP_001395370.1:p.Asp401Asn missense NM_001408442.1:c.1201G>A NP_001395371.1:p.Asp401Asn missense NM_001408443.1:c.1201G>A NP_001395372.1:p.Asp401Asn missense NM_001408444.1:c.1201G>A NP_001395373.1:p.Asp401Asn missense NM_001408445.1:c.1198G>A NP_001395374.1:p.Asp400Asn missense NM_001408446.1:c.1198G>A NP_001395375.1:p.Asp400Asn missense NM_001408447.1:c.1198G>A NP_001395376.1:p.Asp400Asn missense NM_001408448.1:c.1198G>A NP_001395377.1:p.Asp400Asn missense NM_001408450.1:c.1198G>A NP_001395379.1:p.Asp400Asn missense NM_001408451.1:c.1192G>A NP_001395380.1:p.Asp398Asn missense NM_001408452.1:c.1186G>A NP_001395381.1:p.Asp396Asn missense NM_001408453.1:c.1186G>A NP_001395382.1:p.Asp396Asn missense NM_001408454.1:c.1186G>A NP_001395383.1:p.Asp396Asn missense NM_001408455.1:c.1186G>A NP_001395384.1:p.Asp396Asn missense NM_001408456.1:c.1186G>A NP_001395385.1:p.Asp396Asn missense NM_001408457.1:c.1186G>A NP_001395386.1:p.Asp396Asn missense NM_001408458.1:c.1183G>A NP_001395387.1:p.Asp395Asn missense NM_001408459.1:c.1183G>A NP_001395388.1:p.Asp395Asn missense NM_001408460.1:c.1183G>A NP_001395389.1:p.Asp395Asn missense NM_001408461.1:c.1183G>A NP_001395390.1:p.Asp395Asn missense NM_001408462.1:c.1183G>A NP_001395391.1:p.Asp395Asn missense NM_001408463.1:c.1183G>A NP_001395392.1:p.Asp395Asn missense NM_001408464.1:c.1183G>A NP_001395393.1:p.Asp395Asn missense NM_001408465.1:c.1183G>A NP_001395394.1:p.Asp395Asn missense NM_001408466.1:c.1183G>A NP_001395395.1:p.Asp395Asn missense NM_001408467.1:c.1183G>A NP_001395396.1:p.Asp395Asn missense NM_001408468.1:c.1180G>A NP_001395397.1:p.Asp394Asn missense NM_001408469.1:c.1180G>A NP_001395398.1:p.Asp394Asn missense NM_001408470.1:c.1180G>A NP_001395399.1:p.Asp394Asn missense NM_001408472.1:c.1324G>A NP_001395401.1:p.Asp442Asn missense NM_001408473.1:c.1321G>A NP_001395402.1:p.Asp441Asn missense NM_001408474.1:c.1126G>A NP_001395403.1:p.Asp376Asn missense NM_001408475.1:c.1123G>A NP_001395404.1:p.Asp375Asn missense NM_001408476.1:c.1123G>A NP_001395405.1:p.Asp375Asn missense NM_001408478.1:c.1117G>A NP_001395407.1:p.Asp373Asn missense NM_001408479.1:c.1117G>A NP_001395408.1:p.Asp373Asn missense NM_001408480.1:c.1117G>A NP_001395409.1:p.Asp373Asn missense NM_001408481.1:c.1114G>A NP_001395410.1:p.Asp372Asn missense NM_001408482.1:c.1114G>A NP_001395411.1:p.Asp372Asn missense NM_001408483.1:c.1114G>A NP_001395412.1:p.Asp372Asn missense NM_001408484.1:c.1114G>A NP_001395413.1:p.Asp372Asn missense NM_001408485.1:c.1114G>A NP_001395414.1:p.Asp372Asn missense NM_001408489.1:c.1114G>A NP_001395418.1:p.Asp372Asn missense NM_001408490.1:c.1114G>A NP_001395419.1:p.Asp372Asn missense NM_001408491.1:c.1114G>A NP_001395420.1:p.Asp372Asn missense NM_001408492.1:c.1111G>A NP_001395421.1:p.Asp371Asn missense NM_001408493.1:c.1111G>A NP_001395422.1:p.Asp371Asn missense NM_001408494.1:c.1087G>A NP_001395423.1:p.Asp363Asn missense NM_001408495.1:c.1081G>A NP_001395424.1:p.Asp361Asn missense NM_001408496.1:c.1063G>A NP_001395425.1:p.Asp355Asn missense NM_001408497.1:c.1063G>A NP_001395426.1:p.Asp355Asn missense NM_001408498.1:c.1063G>A NP_001395427.1:p.Asp355Asn missense NM_001408499.1:c.1063G>A NP_001395428.1:p.Asp355Asn missense NM_001408500.1:c.1063G>A NP_001395429.1:p.Asp355Asn missense NM_001408501.1:c.1063G>A NP_001395430.1:p.Asp355Asn missense NM_001408502.1:c.1060G>A NP_001395431.1:p.Asp354Asn missense NM_001408503.1:c.1060G>A NP_001395432.1:p.Asp354Asn missense NM_001408504.1:c.1060G>A NP_001395433.1:p.Asp354Asn missense NM_001408505.1:c.1057G>A NP_001395434.1:p.Asp353Asn missense NM_001408506.1:c.1000G>A NP_001395435.1:p.Asp334Asn missense NM_001408507.1:c.997G>A NP_001395436.1:p.Asp333Asn missense NM_001408508.1:c.988G>A NP_001395437.1:p.Asp330Asn missense NM_001408509.1:c.985G>A NP_001395438.1:p.Asp329Asn missense NM_001408510.1:c.946G>A NP_001395439.1:p.Asp316Asn missense NM_001408511.1:c.943G>A NP_001395440.1:p.Asp315Asn missense NM_001408512.1:c.823G>A NP_001395441.1:p.Asp275Asn missense NM_007297.4:c.4495G>A NP_009228.2:p.Asp1499Asn missense NM_007298.4:c.1324G>A NP_009229.2:p.Asp442Asn missense NM_007299.4:c.1324G>A NP_009230.2:p.Asp442Asn missense NM_007300.4:c.4699G>A NP_009231.2:p.Asp1567Asn missense NM_007304.2:c.1324G>A NP_009235.2:p.Asp442Asn missense NR_027676.2:n.4813G>A non-coding transcript variant NC_000017.11:g.43074370C>T NC_000017.10:g.41226387C>T NG_005905.2:g.143614G>A LRG_292:g.143614G>A LRG_292t1:c.4636G>A LRG_292p1:p.Asp1546Asn U14680.1:n.4755G>A - Protein change
- D1546N, D1567N, D442N, D1499N, D1250N, D1417N, D1433N, D1498N, D1520N, D1542N, D1545N, D1566N, D1568N, D329N, D353N, D363N, D403N, D417N, D678N, D1457N, D1474N, D1502N, D1504N, D1526N, D1527N, D1541N, D315N, D334N, D361N, D372N, D394N, D396N, D401N, D439N, D464N, D1418N, D1435N, D1475N, D1476N, D1479N, D1518N, D1544N, D316N, D330N, D333N, D355N, D371N, D375N, D404N, D418N, D465N, D1249N, D1377N, D1419N, D1434N, D1456N, D1458N, D1477N, D1497N, D1503N, D1505N, D1519N, D1543N, D275N, D354N, D373N, D376N, D395N, D398N, D400N, D402N, D416N, D440N, D441N, D443N, D677N
- Other names
- p.D1546N:GAT>AAT
- 4755G>A
- NP_009225.1:p.Asp1546Asn
- Canonical SPDI
- NC_000017.11:43074369:C:T
-
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.
-
0.00020 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00011
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
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 |
- | - |
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. |
---|---|---|---|---|
Benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 30, 2024 | RCV000048612.26 | |
Benign (9) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000112369.22 | |
Benign/Likely benign (6) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000123923.28 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Mar 19, 2021 | RCV000162986.15 | |
Likely benign (2) |
criteria provided, single submitter
|
May 30, 2022 | RCV000735456.11 | |
Benign (1) |
no assertion criteria provided
|
- | RCV001353447.9 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
Dec 1, 2023 | RCV001811341.19 |
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. |
|
---|---|---|---|---|---|
Benign
(Aug 10, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244364.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000173 (less)
|
|
Benign
(Dec 13, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000167307.11
First in ClinVar: Jun 23, 2014 Last updated: Aug 27, 2017 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
Benign
(Oct 09, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743391.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
|
|
Benign
(Mar 31, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000806956.1
First in ClinVar: Aug 27, 2017 Last updated: Aug 27, 2017 |
|
|
Uncertain significance
(May 07, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001429384.1
First in ClinVar: Aug 17, 2020 Last updated: Aug 17, 2020 |
Number of individuals with the variant: 1
|
|
Benign
(Feb 05, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602726.2
First in ClinVar: Aug 27, 2017 Last updated: Jan 26, 2021 |
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Benign
(Nov 16, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002025930.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 2
Geographic origin: South Africa
Testing laboratory: National Health Laboratory Service (NHLS)
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Likely benign
(Aug 24, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002065803.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
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Likely benign
(Mar 19, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002537762.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Likely benign
(Jul 22, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000683196.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
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Benign
(Dec 11, 2014)
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criteria provided, single submitter
Method: literature only
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Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000220947.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
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Likely benign
(May 30, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838237.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Benign
(Jul 07, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004016781.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
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Benign
(Dec 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004140623.6
First in ClinVar: Nov 20, 2023 Last updated: Jun 17, 2024 |
Comment:
BRCA1: BP4, BS1, BS2
Number of individuals with the variant: 2
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Benign
(May 31, 2017)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744611.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
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Likely benign
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001280757.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
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Benign
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550971.4
First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023 |
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Benign
(Dec 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV004228047.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
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Benign
(Jan 30, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000076625.16
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
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Benign
(Sep 03, 2014)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000213474.6
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Benign
(Mar 28, 2013)
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no assertion criteria provided
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863593.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591529.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The p.Asp1646Asn variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice … (more)
The p.Asp1646Asn variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP (rs28897691) and EVS as a low frequency variant, and is reported as benign in XXX# publications (${MatchVariant_1_ReferenceSummary}). (less)
Number of individuals with the variant: 1
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Benign
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004243978.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Uncertain significance
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145135.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 10
Observation 2:
Number of individuals with the variant: 2
Geographic origin: Ashkenazi
Observation 3:
Number of individuals with the variant: 1
Geographic origin: Ashkenazi, Western European
Observation 4:
Number of individuals with the variant: 4
Ethnicity/Population group: Ashkenazi
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Ashkenazi, Central/Eastern European
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Spain
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Lebanese
Observation 8:
Number of individuals with the variant: 2
Ethnicity/Population group: Near Eastern
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Near Eastern, Saudi Arabia
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: Non Jewish
Observation 11:
Number of individuals with the variant: 6
Ethnicity/Population group: Western European
Observation 12:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Northern European
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906156.1 First in ClinVar: Sep 23, 2021 Last updated: Sep 23, 2021 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959251.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
- | - | - | - | PMID: 25741868 |
- | - | - | - | DOI: 10.3389/fgene.2022.834265 |
- | - | - | - | PMID: 12402332 |
- | - | - | - | PMID: 15235020 |
- | - | - | - | PMID: 16014699 |
- | - | - | - | PMID: 17308087 |
- | - | - | - | PMID: 18992264 |
- | - | - | - | PMID: 20104584 |
- | - | - | - | PMID: 21156238 |
- | - | - | - | PMID: 21990134 |
- | - | - | - | PMID: 22713736 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.4636G%3EA | - | - | - | - |
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Text-mined citations for rs28897691 ...
HelpRecord last updated Jun 17, 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.