ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4377_4379del (p.Lys1459_Ser1460delinsAsn)
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
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NM_007294.4(BRCA1):c.4377_4379del (p.Lys1459_Ser1460delinsAsn)
Variation ID: 849158 Accession: VCV000849158.7
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 17q21.31 17: 43076593-43076595 (GRCh38) [ NCBI UCSC ] 17: 41228610-41228612 (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 Jul 10, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4377_4379del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407571.1:c.4164_4166delAAG NP_001394500.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407581.1:c.4443_4445delAAG NP_001394510.1:p.Lys1481_Ser1482delinsAsn inframe indel NM_001407582.1:c.4443_4445delAAG NP_001394511.1:p.Lys1481_Ser1482delinsAsn inframe indel NM_001407583.1:c.4440_4442delAAG NP_001394512.1:p.Lys1480_Ser1481delinsAsn inframe indel NM_001407585.1:c.4440_4442delAAG NP_001394514.1:p.Lys1480_Ser1481delinsAsn inframe indel NM_001407587.1:c.4440_4442delAAG NP_001394516.1:p.Lys1480_Ser1481delinsAsn inframe indel NM_001407590.1:c.4437_4439delAAG NP_001394519.1:p.Lys1479_Ser1480delinsAsn inframe indel NM_001407591.1:c.4437_4439delAAG NP_001394520.1:p.Lys1479_Ser1480delinsAsn inframe indel NM_001407593.1:c.4377_4379delAAG NP_001394522.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407594.1:c.4377_4379delAAG NP_001394523.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407596.1:c.4377_4379delAAG NP_001394525.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407597.1:c.4377_4379delAAG NP_001394526.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407598.1:c.4377_4379delAAG NP_001394527.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407602.1:c.4377_4379delAAG NP_001394531.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407603.1:c.4377_4379delAAG NP_001394532.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407605.1:c.4377_4379delAAG NP_001394534.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407610.1:c.4374_4376delAAG NP_001394539.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407611.1:c.4374_4376delAAG NP_001394540.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407612.1:c.4374_4376delAAG NP_001394541.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407613.1:c.4374_4376delAAG NP_001394542.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407614.1:c.4374_4376delAAG NP_001394543.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407615.1:c.4374_4376delAAG NP_001394544.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407616.1:c.4374_4376delAAG NP_001394545.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407617.1:c.4374_4376delAAG NP_001394546.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407618.1:c.4374_4376delAAG NP_001394547.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407619.1:c.4374_4376delAAG NP_001394548.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407620.1:c.4374_4376delAAG NP_001394549.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407621.1:c.4374_4376delAAG NP_001394550.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407622.1:c.4374_4376delAAG NP_001394551.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407623.1:c.4374_4376delAAG NP_001394552.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407624.1:c.4374_4376delAAG NP_001394553.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407625.1:c.4374_4376delAAG NP_001394554.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407626.1:c.4374_4376delAAG NP_001394555.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407627.1:c.4371_4373delAAG NP_001394556.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407628.1:c.4371_4373delAAG NP_001394557.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407629.1:c.4371_4373delAAG NP_001394558.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407630.1:c.4371_4373delAAG NP_001394559.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407631.1:c.4371_4373delAAG NP_001394560.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407632.1:c.4371_4373delAAG NP_001394561.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407633.1:c.4371_4373delAAG NP_001394562.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407634.1:c.4371_4373delAAG NP_001394563.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407635.1:c.4371_4373delAAG NP_001394564.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407636.1:c.4371_4373delAAG NP_001394565.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407637.1:c.4371_4373delAAG NP_001394566.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407638.1:c.4371_4373delAAG NP_001394567.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407639.1:c.4371_4373delAAG NP_001394568.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407640.1:c.4371_4373delAAG NP_001394569.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407641.1:c.4371_4373delAAG NP_001394570.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407642.1:c.4371_4373delAAG NP_001394571.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407644.1:c.4368_4370delAAG NP_001394573.1:p.Lys1456_Ser1457delinsAsn inframe indel NM_001407645.1:c.4368_4370delAAG NP_001394574.1:p.Lys1456_Ser1457delinsAsn inframe indel NM_001407646.1:c.4365_4367delAAG NP_001394575.1:p.Lys1455_Ser1456delinsAsn inframe indel NM_001407647.1:c.4362_4364delAAG NP_001394576.1:p.Lys1454_Ser1455delinsAsn inframe indel NM_001407648.1:c.4320_4322delAAG NP_001394577.1:p.Lys1440_Ser1441delinsAsn inframe indel NM_001407649.1:c.4317_4319delAAG NP_001394578.1:p.Lys1439_Ser1440delinsAsn inframe indel NM_001407652.1:c.4377_4379delAAG NP_001394581.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407653.1:c.4299_4301delAAG NP_001394582.1:p.Lys1433_Ser1434delinsAsn inframe indel NM_001407654.1:c.4299_4301delAAG NP_001394583.1:p.Lys1433_Ser1434delinsAsn inframe indel NM_001407655.1:c.4299_4301delAAG NP_001394584.1:p.Lys1433_Ser1434delinsAsn inframe indel NM_001407656.1:c.4296_4298delAAG NP_001394585.1:p.Lys1432_Ser1433delinsAsn inframe indel NM_001407657.1:c.4296_4298delAAG NP_001394586.1:p.Lys1432_Ser1433delinsAsn inframe indel NM_001407658.1:c.4296_4298delAAG NP_001394587.1:p.Lys1432_Ser1433delinsAsn inframe indel NM_001407659.1:c.4293_4295delAAG NP_001394588.1:p.Lys1431_Ser1432delinsAsn inframe indel NM_001407660.1:c.4293_4295delAAG NP_001394589.1:p.Lys1431_Ser1432delinsAsn inframe indel NM_001407661.1:c.4293_4295delAAG NP_001394590.1:p.Lys1431_Ser1432delinsAsn inframe indel NM_001407662.1:c.4293_4295delAAG NP_001394591.1:p.Lys1431_Ser1432delinsAsn inframe indel NM_001407663.1:c.4293_4295delAAG NP_001394592.1:p.Lys1431_Ser1432delinsAsn inframe indel NM_001407664.1:c.4254_4256delAAG NP_001394593.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407665.1:c.4254_4256delAAG NP_001394594.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407666.1:c.4254_4256delAAG NP_001394595.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407667.1:c.4254_4256delAAG NP_001394596.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407668.1:c.4254_4256delAAG NP_001394597.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407669.1:c.4254_4256delAAG NP_001394598.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407670.1:c.4251_4253delAAG NP_001394599.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407671.1:c.4251_4253delAAG NP_001394600.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407672.1:c.4251_4253delAAG NP_001394601.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407673.1:c.4251_4253delAAG NP_001394602.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407674.1:c.4251_4253delAAG NP_001394603.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407675.1:c.4251_4253delAAG NP_001394604.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407676.1:c.4251_4253delAAG NP_001394605.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407677.1:c.4251_4253delAAG NP_001394606.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407678.1:c.4251_4253delAAG NP_001394607.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407679.1:c.4251_4253delAAG NP_001394608.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407680.1:c.4251_4253delAAG NP_001394609.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407681.1:c.4248_4250delAAG NP_001394610.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407682.1:c.4248_4250delAAG NP_001394611.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407683.1:c.4248_4250delAAG NP_001394612.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407684.1:c.4377_4379delAAG NP_001394613.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407685.1:c.4248_4250delAAG NP_001394614.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407686.1:c.4248_4250delAAG NP_001394615.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407687.1:c.4248_4250delAAG NP_001394616.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407688.1:c.4248_4250delAAG NP_001394617.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407689.1:c.4248_4250delAAG NP_001394618.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407690.1:c.4245_4247delAAG NP_001394619.1:p.Lys1415_Ser1416delinsAsn inframe indel NM_001407691.1:c.4245_4247delAAG NP_001394620.1:p.Lys1415_Ser1416delinsAsn inframe indel NM_001407692.1:c.4236_4238delAAG NP_001394621.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407694.1:c.4236_4238delAAG NP_001394623.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407695.1:c.4236_4238delAAG NP_001394624.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407696.1:c.4236_4238delAAG NP_001394625.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407697.1:c.4236_4238delAAG NP_001394626.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407698.1:c.4236_4238delAAG NP_001394627.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407724.1:c.4236_4238delAAG NP_001394653.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407725.1:c.4236_4238delAAG NP_001394654.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407726.1:c.4236_4238delAAG NP_001394655.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407727.1:c.4236_4238delAAG NP_001394656.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407728.1:c.4236_4238delAAG NP_001394657.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407729.1:c.4236_4238delAAG NP_001394658.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407730.1:c.4236_4238delAAG NP_001394659.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407731.1:c.4236_4238delAAG NP_001394660.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407732.1:c.4233_4235delAAG NP_001394661.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407733.1:c.4233_4235delAAG NP_001394662.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407734.1:c.4233_4235delAAG NP_001394663.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407735.1:c.4233_4235delAAG NP_001394664.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407736.1:c.4233_4235delAAG NP_001394665.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407737.1:c.4233_4235delAAG NP_001394666.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407738.1:c.4233_4235delAAG NP_001394667.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407739.1:c.4233_4235delAAG NP_001394668.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407740.1:c.4233_4235delAAG NP_001394669.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407741.1:c.4233_4235delAAG NP_001394670.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407742.1:c.4233_4235delAAG NP_001394671.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407743.1:c.4233_4235delAAG NP_001394672.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407744.1:c.4233_4235delAAG NP_001394673.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407745.1:c.4233_4235delAAG NP_001394674.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407746.1:c.4233_4235delAAG NP_001394675.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407747.1:c.4233_4235delAAG NP_001394676.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407748.1:c.4233_4235delAAG NP_001394677.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407749.1:c.4233_4235delAAG NP_001394678.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407750.1:c.4233_4235delAAG NP_001394679.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407751.1:c.4233_4235delAAG NP_001394680.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407752.1:c.4233_4235delAAG NP_001394681.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407838.1:c.4230_4232delAAG NP_001394767.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407839.1:c.4230_4232delAAG NP_001394768.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407841.1:c.4230_4232delAAG NP_001394770.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407842.1:c.4230_4232delAAG NP_001394771.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407843.1:c.4230_4232delAAG NP_001394772.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407844.1:c.4230_4232delAAG NP_001394773.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407845.1:c.4230_4232delAAG NP_001394774.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407846.1:c.4230_4232delAAG NP_001394775.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407847.1:c.4230_4232delAAG NP_001394776.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407848.1:c.4230_4232delAAG NP_001394777.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407849.1:c.4230_4232delAAG NP_001394778.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407850.1:c.4230_4232delAAG NP_001394779.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407851.1:c.4230_4232delAAG NP_001394780.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407852.1:c.4230_4232delAAG NP_001394781.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407853.1:c.4230_4232delAAG NP_001394782.1:p.Lys1410_Ser1411delinsAsn inframe indel NM_001407854.1:c.4377_4379delAAG NP_001394783.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_001407858.1:c.4374_4376delAAG NP_001394787.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407859.1:c.4374_4376delAAG NP_001394788.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407860.1:c.4374_4376delAAG NP_001394789.1:p.Lys1458_Ser1459delinsAsn inframe indel NM_001407861.1:c.4371_4373delAAG NP_001394790.1:p.Lys1457_Ser1458delinsAsn inframe indel NM_001407862.1:c.4176_4178delAAG NP_001394791.1:p.Lys1392_Ser1393delinsAsn inframe indel NM_001407863.1:c.4251_4253delAAG NP_001394792.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407874.1:c.4170_4172delAAG NP_001394803.1:p.Lys1390_Ser1391delinsAsn inframe indel NM_001407875.1:c.4170_4172delAAG NP_001394804.1:p.Lys1390_Ser1391delinsAsn inframe indel NM_001407879.1:c.4167_4169delAAG NP_001394808.1:p.Lys1389_Ser1390delinsAsn inframe indel NM_001407881.1:c.4167_4169delAAG NP_001394810.1:p.Lys1389_Ser1390delinsAsn inframe indel NM_001407882.1:c.4167_4169delAAG NP_001394811.1:p.Lys1389_Ser1390delinsAsn inframe indel NM_001407884.1:c.4167_4169delAAG NP_001394813.1:p.Lys1389_Ser1390delinsAsn inframe indel NM_001407885.1:c.4167_4169delAAG NP_001394814.1:p.Lys1389_Ser1390delinsAsn inframe indel NM_001407886.1:c.4167_4169delAAG NP_001394815.1:p.Lys1389_Ser1390delinsAsn inframe indel NM_001407887.1:c.4167_4169delAAG NP_001394816.1:p.Lys1389_Ser1390delinsAsn inframe indel NM_001407889.1:c.4167_4169delAAG NP_001394818.1:p.Lys1389_Ser1390delinsAsn inframe indel NM_001407894.1:c.4164_4166delAAG NP_001394823.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407895.1:c.4164_4166delAAG NP_001394824.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407896.1:c.4164_4166delAAG NP_001394825.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407897.1:c.4164_4166delAAG NP_001394826.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407898.1:c.4164_4166delAAG NP_001394827.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407899.1:c.4164_4166delAAG NP_001394828.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407900.1:c.4164_4166delAAG NP_001394829.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407902.1:c.4164_4166delAAG NP_001394831.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407904.1:c.4164_4166delAAG NP_001394833.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407906.1:c.4164_4166delAAG NP_001394835.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407907.1:c.4164_4166delAAG NP_001394836.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407908.1:c.4164_4166delAAG NP_001394837.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407909.1:c.4164_4166delAAG NP_001394838.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407910.1:c.4164_4166delAAG NP_001394839.1:p.Lys1388_Ser1389delinsAsn inframe indel NM_001407915.1:c.4161_4163delAAG NP_001394844.1:p.Lys1387_Ser1388delinsAsn inframe indel NM_001407916.1:c.4161_4163delAAG NP_001394845.1:p.Lys1387_Ser1388delinsAsn inframe indel NM_001407917.1:c.4161_4163delAAG NP_001394846.1:p.Lys1387_Ser1388delinsAsn inframe indel NM_001407918.1:c.4161_4163delAAG NP_001394847.1:p.Lys1387_Ser1388delinsAsn inframe indel NM_001407919.1:c.4254_4256delAAG NP_001394848.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407920.1:c.4113_4115delAAG NP_001394849.1:p.Lys1371_Ser1372delinsAsn inframe indel NM_001407921.1:c.4113_4115delAAG NP_001394850.1:p.Lys1371_Ser1372delinsAsn inframe indel NM_001407922.1:c.4113_4115delAAG NP_001394851.1:p.Lys1371_Ser1372delinsAsn inframe indel NM_001407923.1:c.4113_4115delAAG NP_001394852.1:p.Lys1371_Ser1372delinsAsn inframe indel NM_001407924.1:c.4113_4115delAAG NP_001394853.1:p.Lys1371_Ser1372delinsAsn inframe indel NM_001407925.1:c.4113_4115delAAG NP_001394854.1:p.Lys1371_Ser1372delinsAsn inframe indel NM_001407926.1:c.4113_4115delAAG NP_001394855.1:p.Lys1371_Ser1372delinsAsn inframe indel NM_001407927.1:c.4110_4112delAAG NP_001394856.1:p.Lys1370_Ser1371delinsAsn inframe indel NM_001407928.1:c.4110_4112delAAG NP_001394857.1:p.Lys1370_Ser1371delinsAsn inframe indel NM_001407929.1:c.4110_4112delAAG NP_001394858.1:p.Lys1370_Ser1371delinsAsn inframe indel NM_001407930.1:c.4110_4112delAAG NP_001394859.1:p.Lys1370_Ser1371delinsAsn inframe indel NM_001407931.1:c.4110_4112delAAG NP_001394860.1:p.Lys1370_Ser1371delinsAsn inframe indel NM_001407932.1:c.4110_4112delAAG NP_001394861.1:p.Lys1370_Ser1371delinsAsn inframe indel NM_001407933.1:c.4110_4112delAAG NP_001394862.1:p.Lys1370_Ser1371delinsAsn inframe indel NM_001407934.1:c.4107_4109delAAG NP_001394863.1:p.Lys1369_Ser1370delinsAsn inframe indel NM_001407935.1:c.4107_4109delAAG NP_001394864.1:p.Lys1369_Ser1370delinsAsn inframe indel NM_001407936.1:c.4107_4109delAAG NP_001394865.1:p.Lys1369_Ser1370delinsAsn inframe indel NM_001407937.1:c.4254_4256delAAG NP_001394866.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407938.1:c.4254_4256delAAG NP_001394867.1:p.Lys1418_Ser1419delinsAsn inframe indel NM_001407939.1:c.4251_4253delAAG NP_001394868.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407940.1:c.4251_4253delAAG NP_001394869.1:p.Lys1417_Ser1418delinsAsn inframe indel NM_001407941.1:c.4248_4250delAAG NP_001394870.1:p.Lys1416_Ser1417delinsAsn inframe indel NM_001407942.1:c.4236_4238delAAG NP_001394871.1:p.Lys1412_Ser1413delinsAsn inframe indel NM_001407943.1:c.4233_4235delAAG NP_001394872.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407944.1:c.4233_4235delAAG NP_001394873.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407945.1:c.4233_4235delAAG NP_001394874.1:p.Lys1411_Ser1412delinsAsn inframe indel NM_001407946.1:c.4044_4046delAAG NP_001394875.1:p.Lys1348_Ser1349delinsAsn inframe indel NM_001407947.1:c.4044_4046delAAG NP_001394876.1:p.Lys1348_Ser1349delinsAsn inframe indel NM_001407948.1:c.4044_4046delAAG NP_001394877.1:p.Lys1348_Ser1349delinsAsn inframe indel NM_001407949.1:c.4044_4046delAAG NP_001394878.1:p.Lys1348_Ser1349delinsAsn inframe indel NM_001407950.1:c.4041_4043delAAG NP_001394879.1:p.Lys1347_Ser1348delinsAsn inframe indel NM_001407951.1:c.4041_4043delAAG NP_001394880.1:p.Lys1347_Ser1348delinsAsn inframe indel NM_001407952.1:c.4041_4043delAAG NP_001394881.1:p.Lys1347_Ser1348delinsAsn inframe indel NM_001407953.1:c.4041_4043delAAG NP_001394882.1:p.Lys1347_Ser1348delinsAsn inframe indel NM_001407954.1:c.4041_4043delAAG NP_001394883.1:p.Lys1347_Ser1348delinsAsn inframe indel NM_001407955.1:c.4041_4043delAAG NP_001394884.1:p.Lys1347_Ser1348delinsAsn inframe indel NM_001407956.1:c.4038_4040delAAG NP_001394885.1:p.Lys1346_Ser1347delinsAsn inframe indel NM_001407957.1:c.4038_4040delAAG NP_001394886.1:p.Lys1346_Ser1347delinsAsn inframe indel NM_001407958.1:c.4038_4040delAAG NP_001394887.1:p.Lys1346_Ser1347delinsAsn inframe indel NM_001407959.1:c.3996_3998delAAG NP_001394888.1:p.Lys1332_Ser1333delinsAsn inframe indel NM_001407960.1:c.3993_3995delAAG NP_001394889.1:p.Lys1331_Ser1332delinsAsn inframe indel NM_001407962.1:c.3993_3995delAAG NP_001394891.1:p.Lys1331_Ser1332delinsAsn inframe indel NM_001407963.1:c.3990_3992delAAG NP_001394892.1:p.Lys1330_Ser1331delinsAsn inframe indel NM_001407965.1:c.3870_3872delAAG NP_001394894.1:p.Lys1290_Ser1291delinsAsn inframe indel NM_001407966.1:c.3489_3491delAAG NP_001394895.1:p.Lys1163_Ser1164delinsAsn inframe indel NM_001407967.1:c.3486_3488delAAG NP_001394896.1:p.Lys1162_Ser1163delinsAsn inframe indel NM_001407968.1:c.1773_1775delAAG NP_001394897.1:p.Lys591_Ser592delinsAsn inframe indel NM_001407969.1:c.1770_1772delAAG NP_001394898.1:p.Lys590_Ser591delinsAsn inframe indel NM_001407970.1:c.1134_1136delAAG NP_001394899.1:p.Lys378_Ser379delinsAsn inframe indel NM_001407971.1:c.1134_1136delAAG NP_001394900.1:p.Lys378_Ser379delinsAsn inframe indel NM_001407972.1:c.1131_1133delAAG NP_001394901.1:p.Lys377_Ser378delinsAsn inframe indel NM_001407973.1:c.1068_1070delAAG NP_001394902.1:p.Lys356_Ser357delinsAsn inframe indel NM_001407974.1:c.1068_1070delAAG NP_001394903.1:p.Lys356_Ser357delinsAsn inframe indel NM_001407975.1:c.1068_1070delAAG NP_001394904.1:p.Lys356_Ser357delinsAsn inframe indel NM_001407976.1:c.1068_1070delAAG NP_001394905.1:p.Lys356_Ser357delinsAsn inframe indel NM_001407977.1:c.1068_1070delAAG NP_001394906.1:p.Lys356_Ser357delinsAsn inframe indel NM_001407978.1:c.1068_1070delAAG NP_001394907.1:p.Lys356_Ser357delinsAsn inframe indel NM_001407979.1:c.1065_1067delAAG NP_001394908.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407980.1:c.1065_1067delAAG NP_001394909.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407981.1:c.1065_1067delAAG NP_001394910.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407982.1:c.1065_1067delAAG NP_001394911.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407983.1:c.1065_1067delAAG NP_001394912.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407984.1:c.1065_1067delAAG NP_001394913.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407985.1:c.1065_1067delAAG NP_001394914.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407986.1:c.1065_1067delAAG NP_001394915.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407990.1:c.1065_1067delAAG NP_001394919.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407991.1:c.1065_1067delAAG NP_001394920.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407992.1:c.1065_1067delAAG NP_001394921.1:p.Lys355_Ser356delinsAsn inframe indel NM_001407993.1:c.1065_1067delAAG NP_001394922.1:p.Lys355_Ser356delinsAsn inframe indel NM_001408392.1:c.1062_1064delAAG NP_001395321.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408396.1:c.1062_1064delAAG NP_001395325.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408397.1:c.1062_1064delAAG NP_001395326.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408398.1:c.1062_1064delAAG NP_001395327.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408399.1:c.1062_1064delAAG NP_001395328.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408400.1:c.1062_1064delAAG NP_001395329.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408401.1:c.1062_1064delAAG NP_001395330.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408402.1:c.1062_1064delAAG NP_001395331.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408403.1:c.1062_1064delAAG NP_001395332.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408404.1:c.1062_1064delAAG NP_001395333.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408406.1:c.1059_1061delAAG NP_001395335.1:p.Lys353_Ser354delinsAsn inframe indel NM_001408407.1:c.1059_1061delAAG NP_001395336.1:p.Lys353_Ser354delinsAsn inframe indel NM_001408408.1:c.1059_1061delAAG NP_001395337.1:p.Lys353_Ser354delinsAsn inframe indel NM_001408409.1:c.1056_1058delAAG NP_001395338.1:p.Lys352_Ser353delinsAsn inframe indel NM_001408410.1:c.993_995delAAG NP_001395339.1:p.Lys331_Ser332delinsAsn inframe indel NM_001408411.1:c.990_992delAAG NP_001395340.1:p.Lys330_Ser331delinsAsn inframe indel NM_001408412.1:c.987_989delAAG NP_001395341.1:p.Lys329_Ser330delinsAsn inframe indel NM_001408413.1:c.987_989delAAG NP_001395342.1:p.Lys329_Ser330delinsAsn inframe indel NM_001408414.1:c.987_989delAAG NP_001395343.1:p.Lys329_Ser330delinsAsn inframe indel NM_001408415.1:c.987_989delAAG NP_001395344.1:p.Lys329_Ser330delinsAsn inframe indel NM_001408416.1:c.987_989delAAG NP_001395345.1:p.Lys329_Ser330delinsAsn inframe indel NM_001408418.1:c.951_953delAAG NP_001395347.1:p.Lys317_Ser318delinsAsn inframe indel NM_001408419.1:c.951_953delAAG NP_001395348.1:p.Lys317_Ser318delinsAsn inframe indel NM_001408420.1:c.951_953delAAG NP_001395349.1:p.Lys317_Ser318delinsAsn inframe indel NM_001408421.1:c.948_950delAAG NP_001395350.1:p.Lys316_Ser317delinsAsn inframe indel NM_001408422.1:c.948_950delAAG NP_001395351.1:p.Lys316_Ser317delinsAsn inframe indel NM_001408423.1:c.948_950delAAG NP_001395352.1:p.Lys316_Ser317delinsAsn inframe indel NM_001408424.1:c.948_950delAAG NP_001395353.1:p.Lys316_Ser317delinsAsn inframe indel NM_001408425.1:c.945_947delAAG NP_001395354.1:p.Lys315_Ser316delinsAsn inframe indel NM_001408426.1:c.945_947delAAG NP_001395355.1:p.Lys315_Ser316delinsAsn inframe indel NM_001408427.1:c.945_947delAAG NP_001395356.1:p.Lys315_Ser316delinsAsn inframe indel NM_001408428.1:c.945_947delAAG NP_001395357.1:p.Lys315_Ser316delinsAsn inframe indel NM_001408429.1:c.945_947delAAG NP_001395358.1:p.Lys315_Ser316delinsAsn inframe indel NM_001408430.1:c.945_947delAAG NP_001395359.1:p.Lys315_Ser316delinsAsn inframe indel NM_001408431.1:c.945_947delAAG NP_001395360.1:p.Lys315_Ser316delinsAsn inframe indel NM_001408432.1:c.942_944delAAG NP_001395361.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408433.1:c.942_944delAAG NP_001395362.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408434.1:c.942_944delAAG NP_001395363.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408435.1:c.942_944delAAG NP_001395364.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408436.1:c.942_944delAAG NP_001395365.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408437.1:c.942_944delAAG NP_001395366.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408438.1:c.942_944delAAG NP_001395367.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408439.1:c.942_944delAAG NP_001395368.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408440.1:c.942_944delAAG NP_001395369.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408441.1:c.942_944delAAG NP_001395370.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408442.1:c.942_944delAAG NP_001395371.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408443.1:c.942_944delAAG NP_001395372.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408444.1:c.942_944delAAG NP_001395373.1:p.Lys314_Ser315delinsAsn inframe indel NM_001408445.1:c.939_941delAAG NP_001395374.1:p.Lys313_Ser314delinsAsn inframe indel NM_001408446.1:c.939_941delAAG NP_001395375.1:p.Lys313_Ser314delinsAsn inframe indel NM_001408447.1:c.939_941delAAG NP_001395376.1:p.Lys313_Ser314delinsAsn inframe indel NM_001408448.1:c.939_941delAAG NP_001395377.1:p.Lys313_Ser314delinsAsn inframe indel NM_001408450.1:c.939_941delAAG NP_001395379.1:p.Lys313_Ser314delinsAsn inframe indel NM_001408451.1:c.933_935delAAG NP_001395380.1:p.Lys311_Ser312delinsAsn inframe indel NM_001408452.1:c.927_929delAAG NP_001395381.1:p.Lys309_Ser310delinsAsn inframe indel NM_001408453.1:c.927_929delAAG NP_001395382.1:p.Lys309_Ser310delinsAsn inframe indel NM_001408454.1:c.927_929delAAG NP_001395383.1:p.Lys309_Ser310delinsAsn inframe indel NM_001408455.1:c.927_929delAAG NP_001395384.1:p.Lys309_Ser310delinsAsn inframe indel NM_001408456.1:c.927_929delAAG NP_001395385.1:p.Lys309_Ser310delinsAsn inframe indel NM_001408457.1:c.927_929delAAG NP_001395386.1:p.Lys309_Ser310delinsAsn inframe indel NM_001408458.1:c.924_926delAAG NP_001395387.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408459.1:c.924_926delAAG NP_001395388.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408460.1:c.924_926delAAG NP_001395389.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408461.1:c.924_926delAAG NP_001395390.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408462.1:c.924_926delAAG NP_001395391.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408463.1:c.924_926delAAG NP_001395392.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408464.1:c.924_926delAAG NP_001395393.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408465.1:c.924_926delAAG NP_001395394.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408466.1:c.924_926delAAG NP_001395395.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408467.1:c.924_926delAAG NP_001395396.1:p.Lys308_Ser309delinsAsn inframe indel NM_001408468.1:c.921_923delAAG NP_001395397.1:p.Lys307_Ser308delinsAsn inframe indel NM_001408469.1:c.921_923delAAG NP_001395398.1:p.Lys307_Ser308delinsAsn inframe indel NM_001408470.1:c.921_923delAAG NP_001395399.1:p.Lys307_Ser308delinsAsn inframe indel NM_001408472.1:c.1065_1067delAAG NP_001395401.1:p.Lys355_Ser356delinsAsn inframe indel NM_001408473.1:c.1062_1064delAAG NP_001395402.1:p.Lys354_Ser355delinsAsn inframe indel NM_001408474.1:c.867_869delAAG NP_001395403.1:p.Lys289_Ser290delinsAsn inframe indel NM_001408475.1:c.864_866delAAG NP_001395404.1:p.Lys288_Ser289delinsAsn inframe indel NM_001408476.1:c.864_866delAAG NP_001395405.1:p.Lys288_Ser289delinsAsn inframe indel NM_001408478.1:c.858_860delAAG NP_001395407.1:p.Lys286_Ser287delinsAsn inframe indel NM_001408479.1:c.858_860delAAG NP_001395408.1:p.Lys286_Ser287delinsAsn inframe indel NM_001408480.1:c.858_860delAAG NP_001395409.1:p.Lys286_Ser287delinsAsn inframe indel NM_001408481.1:c.855_857delAAG NP_001395410.1:p.Lys285_Ser286delinsAsn inframe indel NM_001408482.1:c.855_857delAAG NP_001395411.1:p.Lys285_Ser286delinsAsn inframe indel NM_001408483.1:c.855_857delAAG NP_001395412.1:p.Lys285_Ser286delinsAsn inframe indel NM_001408484.1:c.855_857delAAG NP_001395413.1:p.Lys285_Ser286delinsAsn inframe indel NM_001408485.1:c.855_857delAAG NP_001395414.1:p.Lys285_Ser286delinsAsn inframe indel NM_001408489.1:c.855_857delAAG NP_001395418.1:p.Lys285_Ser286delinsAsn inframe indel NM_001408490.1:c.855_857delAAG NP_001395419.1:p.Lys285_Ser286delinsAsn inframe indel NM_001408491.1:c.855_857delAAG NP_001395420.1:p.Lys285_Ser286delinsAsn inframe indel NM_001408492.1:c.852_854delAAG NP_001395421.1:p.Lys284_Ser285delinsAsn inframe indel NM_001408493.1:c.852_854delAAG NP_001395422.1:p.Lys284_Ser285delinsAsn inframe indel NM_001408494.1:c.828_830delAAG NP_001395423.1:p.Lys276_Ser277delinsAsn inframe indel NM_001408495.1:c.822_824delAAG NP_001395424.1:p.Lys274_Ser275delinsAsn inframe indel NM_001408496.1:c.804_806delAAG NP_001395425.1:p.Lys268_Ser269delinsAsn inframe indel NM_001408497.1:c.804_806delAAG NP_001395426.1:p.Lys268_Ser269delinsAsn inframe indel NM_001408498.1:c.804_806delAAG NP_001395427.1:p.Lys268_Ser269delinsAsn inframe indel NM_001408499.1:c.804_806delAAG NP_001395428.1:p.Lys268_Ser269delinsAsn inframe indel NM_001408500.1:c.804_806delAAG NP_001395429.1:p.Lys268_Ser269delinsAsn inframe indel NM_001408501.1:c.804_806delAAG NP_001395430.1:p.Lys268_Ser269delinsAsn inframe indel NM_001408502.1:c.801_803delAAG NP_001395431.1:p.Lys267_Ser268delinsAsn inframe indel NM_001408503.1:c.801_803delAAG NP_001395432.1:p.Lys267_Ser268delinsAsn inframe indel NM_001408504.1:c.801_803delAAG NP_001395433.1:p.Lys267_Ser268delinsAsn inframe indel NM_001408505.1:c.798_800delAAG NP_001395434.1:p.Lys266_Ser267delinsAsn inframe indel NM_001408506.1:c.741_743delAAG NP_001395435.1:p.Lys247_Ser248delinsAsn inframe indel NM_001408507.1:c.738_740delAAG NP_001395436.1:p.Lys246_Ser247delinsAsn inframe indel NM_001408508.1:c.729_731delAAG NP_001395437.1:p.Lys243_Ser244delinsAsn inframe indel NM_001408509.1:c.726_728delAAG NP_001395438.1:p.Lys242_Ser243delinsAsn inframe indel NM_001408510.1:c.687_689delAAG NP_001395439.1:p.Lys229_Ser230delinsAsn inframe indel NM_001408511.1:c.684_686delAAG NP_001395440.1:p.Lys228_Ser229delinsAsn inframe indel NM_001408512.1:c.564_566delAAG NP_001395441.1:p.Lys188_Ser189delinsAsn inframe indel NM_007294.3:c.4377_4379delAAG NP_009225.1:p.Lys1459_Ser1460delinsAsn inframe indel NM_007297.4:c.4236_4238del NP_009228.2:p.Lys1412_Ser1413delinsAsn inframe indel NM_007298.4:c.1065_1067delAAG NP_009229.2:p.Lys355_Ser356delinsAsn inframe indel NM_007299.4:c.1065_1067del NP_009230.2:p.Lys355_Ser356delinsAsn inframe indel NM_007300.4:c.4440_4442del NP_009231.2:p.Lys1480_Ser1481delinsAsn inframe indel NM_007304.2:c.1065_1067delAAG NP_009235.2:p.Lys355_Ser356delinsAsn inframe indel NR_027676.2:n.4554_4556del non-coding transcript variant NC_000017.11:g.43076593_43076595del NC_000017.10:g.41228610_41228612del NG_005905.2:g.141389_141391del LRG_292:g.141389_141391del LRG_292t1:c.4377_4379del - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076592:CTT:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12894 | 14680 |
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. |
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Uncertain significance (1) |
criteria provided, single submitter
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Jul 10, 2019 | RCV001053058.6 |
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. |
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Uncertain significance
(Jul 10, 2019)
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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: SCV001217300.4
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
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 … (more)
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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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 variant, c.4377_4379del, results in the deletion of 1 amino acid of the BRCA1 protein (p.Lys1459_Ser1460delinsAsn), but otherwise preserves the integrity of the reading frame. (less)
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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
HelpThere 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 rs2052742922 ...
HelpRecord last updated Jun 02, 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.