ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4837_4838delinsGA (p.Ser1613Asp)
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.4837_4838delinsGA (p.Ser1613Asp)
Variation ID: 919925 Accession: VCV000919925.8
- Type and length
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Indel, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 41223093-41223094 (GRCh37) [ NCBI UCSC ] 17: 43071076-43071077 (GRCh38) [ 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 Jun 22, 2020 Feb 28, 2024 Sep 6, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4837_4838delinsGA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1613Asp missense NM_001407571.1:c.4624_4625delAGinsGA NP_001394500.1:p.Ser1542Asp missense NM_001407581.1:c.4903_4904delAGinsGA NP_001394510.1:p.Ser1635Asp missense NM_001407582.1:c.4903_4904delAGinsGA NP_001394511.1:p.Ser1635Asp missense NM_001407583.1:c.4900_4901delAGinsGA NP_001394512.1:p.Ser1634Asp missense NM_001407585.1:c.4900_4901delAGinsGA NP_001394514.1:p.Ser1634Asp missense NM_001407587.1:c.4900_4901delAGinsGA NP_001394516.1:p.Ser1634Asp missense NM_001407590.1:c.4897_4898delAGinsGA NP_001394519.1:p.Ser1633Asp missense NM_001407591.1:c.4897_4898delAGinsGA NP_001394520.1:p.Ser1633Asp missense NM_001407593.1:c.4837_4838delAGinsGA NP_001394522.1:p.Ser1613Asp missense NM_001407594.1:c.4837_4838delAGinsGA NP_001394523.1:p.Ser1613Asp missense NM_001407596.1:c.4837_4838delAGinsGA NP_001394525.1:p.Ser1613Asp missense NM_001407597.1:c.4837_4838delAGinsGA NP_001394526.1:p.Ser1613Asp missense NM_001407598.1:c.4837_4838delAGinsGA NP_001394527.1:p.Ser1613Asp missense NM_001407602.1:c.4837_4838delAGinsGA NP_001394531.1:p.Ser1613Asp missense NM_001407603.1:c.4837_4838delAGinsGA NP_001394532.1:p.Ser1613Asp missense NM_001407605.1:c.4837_4838delAGinsGA NP_001394534.1:p.Ser1613Asp missense NM_001407610.1:c.4834_4835delAGinsGA NP_001394539.1:p.Ser1612Asp missense NM_001407611.1:c.4834_4835delAGinsGA NP_001394540.1:p.Ser1612Asp missense NM_001407612.1:c.4834_4835delAGinsGA NP_001394541.1:p.Ser1612Asp missense NM_001407613.1:c.4834_4835delAGinsGA NP_001394542.1:p.Ser1612Asp missense NM_001407614.1:c.4834_4835delAGinsGA NP_001394543.1:p.Ser1612Asp missense NM_001407615.1:c.4834_4835delAGinsGA NP_001394544.1:p.Ser1612Asp missense NM_001407616.1:c.4834_4835delAGinsGA NP_001394545.1:p.Ser1612Asp missense NM_001407617.1:c.4834_4835delAGinsGA NP_001394546.1:p.Ser1612Asp missense NM_001407618.1:c.4834_4835delAGinsGA NP_001394547.1:p.Ser1612Asp missense NM_001407619.1:c.4834_4835delAGinsGA NP_001394548.1:p.Ser1612Asp missense NM_001407620.1:c.4834_4835delAGinsGA NP_001394549.1:p.Ser1612Asp missense NM_001407621.1:c.4834_4835delAGinsGA NP_001394550.1:p.Ser1612Asp missense NM_001407622.1:c.4834_4835delAGinsGA NP_001394551.1:p.Ser1612Asp missense NM_001407623.1:c.4834_4835delAGinsGA NP_001394552.1:p.Ser1612Asp missense NM_001407624.1:c.4834_4835delAGinsGA NP_001394553.1:p.Ser1612Asp missense NM_001407625.1:c.4834_4835delAGinsGA NP_001394554.1:p.Ser1612Asp missense NM_001407626.1:c.4834_4835delAGinsGA NP_001394555.1:p.Ser1612Asp missense NM_001407627.1:c.4831_4832delAGinsGA NP_001394556.1:p.Ser1611Asp missense NM_001407628.1:c.4831_4832delAGinsGA NP_001394557.1:p.Ser1611Asp missense NM_001407629.1:c.4831_4832delAGinsGA NP_001394558.1:p.Ser1611Asp missense NM_001407630.1:c.4831_4832delAGinsGA NP_001394559.1:p.Ser1611Asp missense NM_001407631.1:c.4831_4832delAGinsGA NP_001394560.1:p.Ser1611Asp missense NM_001407632.1:c.4831_4832delAGinsGA NP_001394561.1:p.Ser1611Asp missense NM_001407633.1:c.4831_4832delAGinsGA NP_001394562.1:p.Ser1611Asp missense NM_001407634.1:c.4831_4832delAGinsGA NP_001394563.1:p.Ser1611Asp missense NM_001407635.1:c.4831_4832delAGinsGA NP_001394564.1:p.Ser1611Asp missense NM_001407636.1:c.4831_4832delAGinsGA NP_001394565.1:p.Ser1611Asp missense NM_001407637.1:c.4831_4832delAGinsGA NP_001394566.1:p.Ser1611Asp missense NM_001407638.1:c.4831_4832delAGinsGA NP_001394567.1:p.Ser1611Asp missense NM_001407639.1:c.4831_4832delAGinsGA NP_001394568.1:p.Ser1611Asp missense NM_001407640.1:c.4831_4832delAGinsGA NP_001394569.1:p.Ser1611Asp missense NM_001407641.1:c.4831_4832delAGinsGA NP_001394570.1:p.Ser1611Asp missense NM_001407642.1:c.4831_4832delAGinsGA NP_001394571.1:p.Ser1611Asp missense NM_001407644.1:c.4828_4829delAGinsGA NP_001394573.1:p.Ser1610Asp missense NM_001407645.1:c.4828_4829delAGinsGA NP_001394574.1:p.Ser1610Asp missense NM_001407646.1:c.4825_4826delAGinsGA NP_001394575.1:p.Ser1609Asp missense NM_001407647.1:c.4822_4823delAGinsGA NP_001394576.1:p.Ser1608Asp missense NM_001407648.1:c.4780_4781delAGinsGA NP_001394577.1:p.Ser1594Asp missense NM_001407649.1:c.4777_4778delAGinsGA NP_001394578.1:p.Ser1593Asp missense NM_001407652.1:c.4837_4838delAGinsGA NP_001394581.1:p.Ser1613Asp missense NM_001407653.1:c.4759_4760delAGinsGA NP_001394582.1:p.Ser1587Asp missense NM_001407654.1:c.4759_4760delAGinsGA NP_001394583.1:p.Ser1587Asp missense NM_001407655.1:c.4759_4760delAGinsGA NP_001394584.1:p.Ser1587Asp missense NM_001407656.1:c.4756_4757delAGinsGA NP_001394585.1:p.Ser1586Asp missense NM_001407657.1:c.4756_4757delAGinsGA NP_001394586.1:p.Ser1586Asp missense NM_001407658.1:c.4756_4757delAGinsGA NP_001394587.1:p.Ser1586Asp missense NM_001407659.1:c.4753_4754delAGinsGA NP_001394588.1:p.Ser1585Asp missense NM_001407660.1:c.4753_4754delAGinsGA NP_001394589.1:p.Ser1585Asp missense NM_001407661.1:c.4753_4754delAGinsGA NP_001394590.1:p.Ser1585Asp missense NM_001407662.1:c.4753_4754delAGinsGA NP_001394591.1:p.Ser1585Asp missense NM_001407663.1:c.4753_4754delAGinsGA NP_001394592.1:p.Ser1585Asp missense NM_001407664.1:c.4714_4715delAGinsGA NP_001394593.1:p.Ser1572Asp missense NM_001407665.1:c.4714_4715delAGinsGA NP_001394594.1:p.Ser1572Asp missense NM_001407666.1:c.4714_4715delAGinsGA NP_001394595.1:p.Ser1572Asp missense NM_001407667.1:c.4714_4715delAGinsGA NP_001394596.1:p.Ser1572Asp missense NM_001407668.1:c.4714_4715delAGinsGA NP_001394597.1:p.Ser1572Asp missense NM_001407669.1:c.4714_4715delAGinsGA NP_001394598.1:p.Ser1572Asp missense NM_001407670.1:c.4711_4712delAGinsGA NP_001394599.1:p.Ser1571Asp missense NM_001407671.1:c.4711_4712delAGinsGA NP_001394600.1:p.Ser1571Asp missense NM_001407672.1:c.4711_4712delAGinsGA NP_001394601.1:p.Ser1571Asp missense NM_001407673.1:c.4711_4712delAGinsGA NP_001394602.1:p.Ser1571Asp missense NM_001407674.1:c.4711_4712delAGinsGA NP_001394603.1:p.Ser1571Asp missense NM_001407675.1:c.4711_4712delAGinsGA NP_001394604.1:p.Ser1571Asp missense NM_001407676.1:c.4711_4712delAGinsGA NP_001394605.1:p.Ser1571Asp missense NM_001407677.1:c.4711_4712delAGinsGA NP_001394606.1:p.Ser1571Asp missense NM_001407678.1:c.4711_4712delAGinsGA NP_001394607.1:p.Ser1571Asp missense NM_001407679.1:c.4711_4712delAGinsGA NP_001394608.1:p.Ser1571Asp missense NM_001407680.1:c.4711_4712delAGinsGA NP_001394609.1:p.Ser1571Asp missense NM_001407681.1:c.4708_4709delAGinsGA NP_001394610.1:p.Ser1570Asp missense NM_001407682.1:c.4708_4709delAGinsGA NP_001394611.1:p.Ser1570Asp missense NM_001407683.1:c.4708_4709delAGinsGA NP_001394612.1:p.Ser1570Asp missense NM_001407684.1:c.4837_4838delAGinsGA NP_001394613.1:p.Ser1613Asp missense NM_001407685.1:c.4708_4709delAGinsGA NP_001394614.1:p.Ser1570Asp missense NM_001407686.1:c.4708_4709delAGinsGA NP_001394615.1:p.Ser1570Asp missense NM_001407687.1:c.4708_4709delAGinsGA NP_001394616.1:p.Ser1570Asp missense NM_001407688.1:c.4708_4709delAGinsGA NP_001394617.1:p.Ser1570Asp missense NM_001407689.1:c.4708_4709delAGinsGA NP_001394618.1:p.Ser1570Asp missense NM_001407690.1:c.4705_4706delAGinsGA NP_001394619.1:p.Ser1569Asp missense NM_001407691.1:c.4705_4706delAGinsGA NP_001394620.1:p.Ser1569Asp missense NM_001407692.1:c.4696_4697delAGinsGA NP_001394621.1:p.Ser1566Asp missense NM_001407694.1:c.4696_4697delAGinsGA NP_001394623.1:p.Ser1566Asp missense NM_001407695.1:c.4696_4697delAGinsGA NP_001394624.1:p.Ser1566Asp missense NM_001407696.1:c.4696_4697delAGinsGA NP_001394625.1:p.Ser1566Asp missense NM_001407697.1:c.4696_4697delAGinsGA NP_001394626.1:p.Ser1566Asp missense NM_001407698.1:c.4696_4697delAGinsGA NP_001394627.1:p.Ser1566Asp missense NM_001407724.1:c.4696_4697delAGinsGA NP_001394653.1:p.Ser1566Asp missense NM_001407725.1:c.4696_4697delAGinsGA NP_001394654.1:p.Ser1566Asp missense NM_001407726.1:c.4696_4697delAGinsGA NP_001394655.1:p.Ser1566Asp missense NM_001407727.1:c.4696_4697delAGinsGA NP_001394656.1:p.Ser1566Asp missense NM_001407728.1:c.4696_4697delAGinsGA NP_001394657.1:p.Ser1566Asp missense NM_001407729.1:c.4696_4697delAGinsGA NP_001394658.1:p.Ser1566Asp missense NM_001407730.1:c.4696_4697delAGinsGA NP_001394659.1:p.Ser1566Asp missense NM_001407731.1:c.4696_4697delAGinsGA NP_001394660.1:p.Ser1566Asp missense NM_001407732.1:c.4693_4694delAGinsGA NP_001394661.1:p.Ser1565Asp missense NM_001407733.1:c.4693_4694delAGinsGA NP_001394662.1:p.Ser1565Asp missense NM_001407734.1:c.4693_4694delAGinsGA NP_001394663.1:p.Ser1565Asp missense NM_001407735.1:c.4693_4694delAGinsGA NP_001394664.1:p.Ser1565Asp missense NM_001407736.1:c.4693_4694delAGinsGA NP_001394665.1:p.Ser1565Asp missense NM_001407737.1:c.4693_4694delAGinsGA NP_001394666.1:p.Ser1565Asp missense NM_001407738.1:c.4693_4694delAGinsGA NP_001394667.1:p.Ser1565Asp missense NM_001407739.1:c.4693_4694delAGinsGA NP_001394668.1:p.Ser1565Asp missense NM_001407740.1:c.4693_4694delAGinsGA NP_001394669.1:p.Ser1565Asp missense NM_001407741.1:c.4693_4694delAGinsGA NP_001394670.1:p.Ser1565Asp missense NM_001407742.1:c.4693_4694delAGinsGA NP_001394671.1:p.Ser1565Asp missense NM_001407743.1:c.4693_4694delAGinsGA NP_001394672.1:p.Ser1565Asp missense NM_001407744.1:c.4693_4694delAGinsGA NP_001394673.1:p.Ser1565Asp missense NM_001407745.1:c.4693_4694delAGinsGA NP_001394674.1:p.Ser1565Asp missense NM_001407746.1:c.4693_4694delAGinsGA NP_001394675.1:p.Ser1565Asp missense NM_001407747.1:c.4693_4694delAGinsGA NP_001394676.1:p.Ser1565Asp missense NM_001407748.1:c.4693_4694delAGinsGA NP_001394677.1:p.Ser1565Asp missense NM_001407749.1:c.4693_4694delAGinsGA NP_001394678.1:p.Ser1565Asp missense NM_001407750.1:c.4693_4694delAGinsGA NP_001394679.1:p.Ser1565Asp missense NM_001407751.1:c.4693_4694delAGinsGA NP_001394680.1:p.Ser1565Asp missense NM_001407752.1:c.4693_4694delAGinsGA NP_001394681.1:p.Ser1565Asp missense NM_001407838.1:c.4690_4691delAGinsGA NP_001394767.1:p.Ser1564Asp missense NM_001407839.1:c.4690_4691delAGinsGA NP_001394768.1:p.Ser1564Asp missense NM_001407841.1:c.4690_4691delAGinsGA NP_001394770.1:p.Ser1564Asp missense NM_001407842.1:c.4690_4691delAGinsGA NP_001394771.1:p.Ser1564Asp missense NM_001407843.1:c.4690_4691delAGinsGA NP_001394772.1:p.Ser1564Asp missense NM_001407844.1:c.4690_4691delAGinsGA NP_001394773.1:p.Ser1564Asp missense NM_001407845.1:c.4690_4691delAGinsGA NP_001394774.1:p.Ser1564Asp missense NM_001407846.1:c.4690_4691delAGinsGA NP_001394775.1:p.Ser1564Asp missense NM_001407847.1:c.4690_4691delAGinsGA NP_001394776.1:p.Ser1564Asp missense NM_001407848.1:c.4690_4691delAGinsGA NP_001394777.1:p.Ser1564Asp missense NM_001407849.1:c.4690_4691delAGinsGA NP_001394778.1:p.Ser1564Asp missense NM_001407850.1:c.4690_4691delAGinsGA NP_001394779.1:p.Ser1564Asp missense NM_001407851.1:c.4690_4691delAGinsGA NP_001394780.1:p.Ser1564Asp missense NM_001407852.1:c.4690_4691delAGinsGA NP_001394781.1:p.Ser1564Asp missense NM_001407853.1:c.4690_4691delAGinsGA NP_001394782.1:p.Ser1564Asp missense NM_001407854.1:c.4837_4838delAGinsGA NP_001394783.1:p.Ser1613Asp missense NM_001407858.1:c.4834_4835delAGinsGA NP_001394787.1:p.Ser1612Asp missense NM_001407859.1:c.4834_4835delAGinsGA NP_001394788.1:p.Ser1612Asp missense NM_001407860.1:c.4834_4835delAGinsGA NP_001394789.1:p.Ser1612Asp missense NM_001407861.1:c.4831_4832delAGinsGA NP_001394790.1:p.Ser1611Asp missense NM_001407862.1:c.4636_4637delAGinsGA NP_001394791.1:p.Ser1546Asp missense NM_001407863.1:c.4711_4712delAGinsGA NP_001394792.1:p.Ser1571Asp missense NM_001407874.1:c.4630_4631delAGinsGA NP_001394803.1:p.Ser1544Asp missense NM_001407875.1:c.4630_4631delAGinsGA NP_001394804.1:p.Ser1544Asp missense NM_001407879.1:c.4627_4628delAGinsGA NP_001394808.1:p.Ser1543Asp missense NM_001407881.1:c.4627_4628delAGinsGA NP_001394810.1:p.Ser1543Asp missense NM_001407882.1:c.4627_4628delAGinsGA NP_001394811.1:p.Ser1543Asp missense NM_001407884.1:c.4627_4628delAGinsGA NP_001394813.1:p.Ser1543Asp missense NM_001407885.1:c.4627_4628delAGinsGA NP_001394814.1:p.Ser1543Asp missense NM_001407886.1:c.4627_4628delAGinsGA NP_001394815.1:p.Ser1543Asp missense NM_001407887.1:c.4627_4628delAGinsGA NP_001394816.1:p.Ser1543Asp missense NM_001407889.1:c.4627_4628delAGinsGA NP_001394818.1:p.Ser1543Asp missense NM_001407894.1:c.4624_4625delAGinsGA NP_001394823.1:p.Ser1542Asp missense NM_001407895.1:c.4624_4625delAGinsGA NP_001394824.1:p.Ser1542Asp missense NM_001407896.1:c.4624_4625delAGinsGA NP_001394825.1:p.Ser1542Asp missense NM_001407897.1:c.4624_4625delAGinsGA NP_001394826.1:p.Ser1542Asp missense NM_001407898.1:c.4624_4625delAGinsGA NP_001394827.1:p.Ser1542Asp missense NM_001407899.1:c.4624_4625delAGinsGA NP_001394828.1:p.Ser1542Asp missense NM_001407900.1:c.4624_4625delAGinsGA NP_001394829.1:p.Ser1542Asp missense NM_001407902.1:c.4624_4625delAGinsGA NP_001394831.1:p.Ser1542Asp missense NM_001407904.1:c.4624_4625delAGinsGA NP_001394833.1:p.Ser1542Asp missense NM_001407906.1:c.4624_4625delAGinsGA NP_001394835.1:p.Ser1542Asp missense NM_001407907.1:c.4624_4625delAGinsGA NP_001394836.1:p.Ser1542Asp missense NM_001407908.1:c.4624_4625delAGinsGA NP_001394837.1:p.Ser1542Asp missense NM_001407909.1:c.4624_4625delAGinsGA NP_001394838.1:p.Ser1542Asp missense NM_001407910.1:c.4624_4625delAGinsGA NP_001394839.1:p.Ser1542Asp missense NM_001407915.1:c.4621_4622delAGinsGA NP_001394844.1:p.Ser1541Asp missense NM_001407916.1:c.4621_4622delAGinsGA NP_001394845.1:p.Ser1541Asp missense NM_001407917.1:c.4621_4622delAGinsGA NP_001394846.1:p.Ser1541Asp missense NM_001407918.1:c.4621_4622delAGinsGA NP_001394847.1:p.Ser1541Asp missense NM_001407919.1:c.4714_4715delAGinsGA NP_001394848.1:p.Ser1572Asp missense NM_001407920.1:c.4573_4574delAGinsGA NP_001394849.1:p.Ser1525Asp missense NM_001407921.1:c.4573_4574delAGinsGA NP_001394850.1:p.Ser1525Asp missense NM_001407922.1:c.4573_4574delAGinsGA NP_001394851.1:p.Ser1525Asp missense NM_001407923.1:c.4573_4574delAGinsGA NP_001394852.1:p.Ser1525Asp missense NM_001407924.1:c.4573_4574delAGinsGA NP_001394853.1:p.Ser1525Asp missense NM_001407925.1:c.4573_4574delAGinsGA NP_001394854.1:p.Ser1525Asp missense NM_001407926.1:c.4573_4574delAGinsGA NP_001394855.1:p.Ser1525Asp missense NM_001407927.1:c.4570_4571delAGinsGA NP_001394856.1:p.Ser1524Asp missense NM_001407928.1:c.4570_4571delAGinsGA NP_001394857.1:p.Ser1524Asp missense NM_001407929.1:c.4570_4571delAGinsGA NP_001394858.1:p.Ser1524Asp missense NM_001407930.1:c.4570_4571delAGinsGA NP_001394859.1:p.Ser1524Asp missense NM_001407931.1:c.4570_4571delAGinsGA NP_001394860.1:p.Ser1524Asp missense NM_001407932.1:c.4570_4571delAGinsGA NP_001394861.1:p.Ser1524Asp missense NM_001407933.1:c.4570_4571delAGinsGA NP_001394862.1:p.Ser1524Asp missense NM_001407934.1:c.4567_4568delAGinsGA NP_001394863.1:p.Ser1523Asp missense NM_001407935.1:c.4567_4568delAGinsGA NP_001394864.1:p.Ser1523Asp missense NM_001407936.1:c.4567_4568delAGinsGA NP_001394865.1:p.Ser1523Asp missense NM_001407937.1:c.4714_4715delAGinsGA NP_001394866.1:p.Ser1572Asp missense NM_001407938.1:c.4714_4715delAGinsGA NP_001394867.1:p.Ser1572Asp missense NM_001407939.1:c.4711_4712delAGinsGA NP_001394868.1:p.Ser1571Asp missense NM_001407940.1:c.4711_4712delAGinsGA NP_001394869.1:p.Ser1571Asp missense NM_001407941.1:c.4708_4709delAGinsGA NP_001394870.1:p.Ser1570Asp missense NM_001407942.1:c.4696_4697delAGinsGA NP_001394871.1:p.Ser1566Asp missense NM_001407943.1:c.4693_4694delAGinsGA NP_001394872.1:p.Ser1565Asp missense NM_001407944.1:c.4693_4694delAGinsGA NP_001394873.1:p.Ser1565Asp missense NM_001407945.1:c.4693_4694delAGinsGA NP_001394874.1:p.Ser1565Asp missense NM_001407946.1:c.4504_4505delAGinsGA NP_001394875.1:p.Ser1502Asp missense NM_001407947.1:c.4504_4505delAGinsGA NP_001394876.1:p.Ser1502Asp missense NM_001407948.1:c.4504_4505delAGinsGA NP_001394877.1:p.Ser1502Asp missense NM_001407949.1:c.4504_4505delAGinsGA NP_001394878.1:p.Ser1502Asp missense NM_001407950.1:c.4501_4502delAGinsGA NP_001394879.1:p.Ser1501Asp missense NM_001407951.1:c.4501_4502delAGinsGA NP_001394880.1:p.Ser1501Asp missense NM_001407952.1:c.4501_4502delAGinsGA NP_001394881.1:p.Ser1501Asp missense NM_001407953.1:c.4501_4502delAGinsGA NP_001394882.1:p.Ser1501Asp missense NM_001407954.1:c.4501_4502delAGinsGA NP_001394883.1:p.Ser1501Asp missense NM_001407955.1:c.4501_4502delAGinsGA NP_001394884.1:p.Ser1501Asp missense NM_001407956.1:c.4498_4499delAGinsGA NP_001394885.1:p.Ser1500Asp missense NM_001407957.1:c.4498_4499delAGinsGA NP_001394886.1:p.Ser1500Asp missense NM_001407958.1:c.4498_4499delAGinsGA NP_001394887.1:p.Ser1500Asp missense NM_001407959.1:c.4456_4457delAGinsGA NP_001394888.1:p.Ser1486Asp missense NM_001407960.1:c.4453_4454delAGinsGA NP_001394889.1:p.Ser1485Asp missense NM_001407962.1:c.4453_4454delAGinsGA NP_001394891.1:p.Ser1485Asp missense NM_001407963.1:c.4450_4451delAGinsGA NP_001394892.1:p.Ser1484Asp missense NM_001407964.1:c.4375_4376delAGinsGA NP_001394893.1:p.Ser1459Asp missense NM_001407965.1:c.4330_4331delAGinsGA NP_001394894.1:p.Ser1444Asp missense NM_001407966.1:c.3949_3950delAGinsGA NP_001394895.1:p.Ser1317Asp missense NM_001407967.1:c.3946_3947delAGinsGA NP_001394896.1:p.Ser1316Asp missense NM_001407968.1:c.2233_2234delAGinsGA NP_001394897.1:p.Ser745Asp missense NM_001407969.1:c.2230_2231delAGinsGA NP_001394898.1:p.Ser744Asp missense NM_001407970.1:c.1594_1595delAGinsGA NP_001394899.1:p.Ser532Asp missense NM_001407971.1:c.1594_1595delAGinsGA NP_001394900.1:p.Ser532Asp missense NM_001407972.1:c.1591_1592delAGinsGA NP_001394901.1:p.Ser531Asp missense NM_001407973.1:c.1528_1529delAGinsGA NP_001394902.1:p.Ser510Asp missense NM_001407974.1:c.1528_1529delAGinsGA NP_001394903.1:p.Ser510Asp missense NM_001407975.1:c.1528_1529delAGinsGA NP_001394904.1:p.Ser510Asp missense NM_001407976.1:c.1528_1529delAGinsGA NP_001394905.1:p.Ser510Asp missense NM_001407977.1:c.1528_1529delAGinsGA NP_001394906.1:p.Ser510Asp missense NM_001407978.1:c.1528_1529delAGinsGA NP_001394907.1:p.Ser510Asp missense NM_001407979.1:c.1525_1526delAGinsGA NP_001394908.1:p.Ser509Asp missense NM_001407980.1:c.1525_1526delAGinsGA NP_001394909.1:p.Ser509Asp missense NM_001407981.1:c.1525_1526delAGinsGA NP_001394910.1:p.Ser509Asp missense NM_001407982.1:c.1525_1526delAGinsGA NP_001394911.1:p.Ser509Asp missense NM_001407983.1:c.1525_1526delAGinsGA NP_001394912.1:p.Ser509Asp missense NM_001407984.1:c.1525_1526delAGinsGA NP_001394913.1:p.Ser509Asp missense NM_001407985.1:c.1525_1526delAGinsGA NP_001394914.1:p.Ser509Asp missense NM_001407986.1:c.1525_1526delAGinsGA NP_001394915.1:p.Ser509Asp missense NM_001407990.1:c.1525_1526delAGinsGA NP_001394919.1:p.Ser509Asp missense NM_001407991.1:c.1525_1526delAGinsGA NP_001394920.1:p.Ser509Asp missense NM_001407992.1:c.1525_1526delAGinsGA NP_001394921.1:p.Ser509Asp missense NM_001407993.1:c.1525_1526delAGinsGA NP_001394922.1:p.Ser509Asp missense NM_001408392.1:c.1522_1523delAGinsGA NP_001395321.1:p.Ser508Asp missense NM_001408396.1:c.1522_1523delAGinsGA NP_001395325.1:p.Ser508Asp missense NM_001408397.1:c.1522_1523delAGinsGA NP_001395326.1:p.Ser508Asp missense NM_001408398.1:c.1522_1523delAGinsGA NP_001395327.1:p.Ser508Asp missense NM_001408399.1:c.1522_1523delAGinsGA NP_001395328.1:p.Ser508Asp missense NM_001408400.1:c.1522_1523delAGinsGA NP_001395329.1:p.Ser508Asp missense NM_001408401.1:c.1522_1523delAGinsGA NP_001395330.1:p.Ser508Asp missense NM_001408402.1:c.1522_1523delAGinsGA NP_001395331.1:p.Ser508Asp missense NM_001408403.1:c.1522_1523delAGinsGA NP_001395332.1:p.Ser508Asp missense NM_001408404.1:c.1522_1523delAGinsGA NP_001395333.1:p.Ser508Asp missense NM_001408406.1:c.1519_1520delAGinsGA NP_001395335.1:p.Ser507Asp missense NM_001408407.1:c.1519_1520delAGinsGA NP_001395336.1:p.Ser507Asp missense NM_001408408.1:c.1519_1520delAGinsGA NP_001395337.1:p.Ser507Asp missense NM_001408409.1:c.1516_1517delAGinsGA NP_001395338.1:p.Ser506Asp missense NM_001408410.1:c.1453_1454delAGinsGA NP_001395339.1:p.Ser485Asp missense NM_001408411.1:c.1450_1451delAGinsGA NP_001395340.1:p.Ser484Asp missense NM_001408412.1:c.1447_1448delAGinsGA NP_001395341.1:p.Ser483Asp missense NM_001408413.1:c.1447_1448delAGinsGA NP_001395342.1:p.Ser483Asp missense NM_001408414.1:c.1447_1448delAGinsGA NP_001395343.1:p.Ser483Asp missense NM_001408415.1:c.1447_1448delAGinsGA NP_001395344.1:p.Ser483Asp missense NM_001408416.1:c.1447_1448delAGinsGA NP_001395345.1:p.Ser483Asp missense NM_001408418.1:c.1411_1412delAGinsGA NP_001395347.1:p.Ser471Asp missense NM_001408419.1:c.1411_1412delAGinsGA NP_001395348.1:p.Ser471Asp missense NM_001408420.1:c.1411_1412delAGinsGA NP_001395349.1:p.Ser471Asp missense NM_001408421.1:c.1408_1409delAGinsGA NP_001395350.1:p.Ser470Asp missense NM_001408422.1:c.1408_1409delAGinsGA NP_001395351.1:p.Ser470Asp missense NM_001408423.1:c.1408_1409delAGinsGA NP_001395352.1:p.Ser470Asp missense NM_001408424.1:c.1408_1409delAGinsGA NP_001395353.1:p.Ser470Asp missense NM_001408425.1:c.1405_1406delAGinsGA NP_001395354.1:p.Ser469Asp missense NM_001408426.1:c.1405_1406delAGinsGA NP_001395355.1:p.Ser469Asp missense NM_001408427.1:c.1405_1406delAGinsGA NP_001395356.1:p.Ser469Asp missense NM_001408428.1:c.1405_1406delAGinsGA NP_001395357.1:p.Ser469Asp missense NM_001408429.1:c.1405_1406delAGinsGA NP_001395358.1:p.Ser469Asp missense NM_001408430.1:c.1405_1406delAGinsGA NP_001395359.1:p.Ser469Asp missense NM_001408431.1:c.1405_1406delAGinsGA NP_001395360.1:p.Ser469Asp missense NM_001408432.1:c.1402_1403delAGinsGA NP_001395361.1:p.Ser468Asp missense NM_001408433.1:c.1402_1403delAGinsGA NP_001395362.1:p.Ser468Asp missense NM_001408434.1:c.1402_1403delAGinsGA NP_001395363.1:p.Ser468Asp missense NM_001408435.1:c.1402_1403delAGinsGA NP_001395364.1:p.Ser468Asp missense NM_001408436.1:c.1402_1403delAGinsGA NP_001395365.1:p.Ser468Asp missense NM_001408437.1:c.1402_1403delAGinsGA NP_001395366.1:p.Ser468Asp missense NM_001408438.1:c.1402_1403delAGinsGA NP_001395367.1:p.Ser468Asp missense NM_001408439.1:c.1402_1403delAGinsGA NP_001395368.1:p.Ser468Asp missense NM_001408440.1:c.1402_1403delAGinsGA NP_001395369.1:p.Ser468Asp missense NM_001408441.1:c.1402_1403delAGinsGA NP_001395370.1:p.Ser468Asp missense NM_001408442.1:c.1402_1403delAGinsGA NP_001395371.1:p.Ser468Asp missense NM_001408443.1:c.1402_1403delAGinsGA NP_001395372.1:p.Ser468Asp missense NM_001408444.1:c.1402_1403delAGinsGA NP_001395373.1:p.Ser468Asp missense NM_001408445.1:c.1399_1400delAGinsGA NP_001395374.1:p.Ser467Asp missense NM_001408446.1:c.1399_1400delAGinsGA NP_001395375.1:p.Ser467Asp missense NM_001408447.1:c.1399_1400delAGinsGA NP_001395376.1:p.Ser467Asp missense NM_001408448.1:c.1399_1400delAGinsGA NP_001395377.1:p.Ser467Asp missense NM_001408450.1:c.1399_1400delAGinsGA NP_001395379.1:p.Ser467Asp missense NM_001408451.1:c.1393_1394delAGinsGA NP_001395380.1:p.Ser465Asp missense NM_001408452.1:c.1387_1388delAGinsGA NP_001395381.1:p.Ser463Asp missense NM_001408453.1:c.1387_1388delAGinsGA NP_001395382.1:p.Ser463Asp missense NM_001408454.1:c.1387_1388delAGinsGA NP_001395383.1:p.Ser463Asp missense NM_001408455.1:c.1387_1388delAGinsGA NP_001395384.1:p.Ser463Asp missense NM_001408456.1:c.1387_1388delAGinsGA NP_001395385.1:p.Ser463Asp missense NM_001408457.1:c.1387_1388delAGinsGA NP_001395386.1:p.Ser463Asp missense NM_001408458.1:c.1384_1385delAGinsGA NP_001395387.1:p.Ser462Asp missense NM_001408459.1:c.1384_1385delAGinsGA NP_001395388.1:p.Ser462Asp missense NM_001408460.1:c.1384_1385delAGinsGA NP_001395389.1:p.Ser462Asp missense NM_001408461.1:c.1384_1385delAGinsGA NP_001395390.1:p.Ser462Asp missense NM_001408462.1:c.1384_1385delAGinsGA NP_001395391.1:p.Ser462Asp missense NM_001408463.1:c.1384_1385delAGinsGA NP_001395392.1:p.Ser462Asp missense NM_001408464.1:c.1384_1385delAGinsGA NP_001395393.1:p.Ser462Asp missense NM_001408465.1:c.1384_1385delAGinsGA NP_001395394.1:p.Ser462Asp missense NM_001408466.1:c.1384_1385delAGinsGA NP_001395395.1:p.Ser462Asp missense NM_001408467.1:c.1384_1385delAGinsGA NP_001395396.1:p.Ser462Asp missense NM_001408468.1:c.1381_1382delAGinsGA NP_001395397.1:p.Ser461Asp missense NM_001408469.1:c.1381_1382delAGinsGA NP_001395398.1:p.Ser461Asp missense NM_001408470.1:c.1381_1382delAGinsGA NP_001395399.1:p.Ser461Asp missense NM_001408472.1:c.1525_1526delAGinsGA NP_001395401.1:p.Ser509Asp missense NM_001408473.1:c.1522_1523delAGinsGA NP_001395402.1:p.Ser508Asp missense NM_001408474.1:c.1327_1328delAGinsGA NP_001395403.1:p.Ser443Asp missense NM_001408475.1:c.1324_1325delAGinsGA NP_001395404.1:p.Ser442Asp missense NM_001408476.1:c.1324_1325delAGinsGA NP_001395405.1:p.Ser442Asp missense NM_001408478.1:c.1318_1319delAGinsGA NP_001395407.1:p.Ser440Asp missense NM_001408479.1:c.1318_1319delAGinsGA NP_001395408.1:p.Ser440Asp missense NM_001408480.1:c.1318_1319delAGinsGA NP_001395409.1:p.Ser440Asp missense NM_001408481.1:c.1315_1316delAGinsGA NP_001395410.1:p.Ser439Asp missense NM_001408482.1:c.1315_1316delAGinsGA NP_001395411.1:p.Ser439Asp missense NM_001408483.1:c.1315_1316delAGinsGA NP_001395412.1:p.Ser439Asp missense NM_001408484.1:c.1315_1316delAGinsGA NP_001395413.1:p.Ser439Asp missense NM_001408485.1:c.1315_1316delAGinsGA NP_001395414.1:p.Ser439Asp missense NM_001408489.1:c.1315_1316delAGinsGA NP_001395418.1:p.Ser439Asp missense NM_001408490.1:c.1315_1316delAGinsGA NP_001395419.1:p.Ser439Asp missense NM_001408491.1:c.1315_1316delAGinsGA NP_001395420.1:p.Ser439Asp missense NM_001408492.1:c.1312_1313delAGinsGA NP_001395421.1:p.Ser438Asp missense NM_001408493.1:c.1312_1313delAGinsGA NP_001395422.1:p.Ser438Asp missense NM_001408494.1:c.1288_1289delAGinsGA NP_001395423.1:p.Ser430Asp missense NM_001408495.1:c.1282_1283delAGinsGA NP_001395424.1:p.Ser428Asp missense NM_001408496.1:c.1264_1265delAGinsGA NP_001395425.1:p.Ser422Asp missense NM_001408497.1:c.1264_1265delAGinsGA NP_001395426.1:p.Ser422Asp missense NM_001408498.1:c.1264_1265delAGinsGA NP_001395427.1:p.Ser422Asp missense NM_001408499.1:c.1264_1265delAGinsGA NP_001395428.1:p.Ser422Asp missense NM_001408500.1:c.1264_1265delAGinsGA NP_001395429.1:p.Ser422Asp missense NM_001408501.1:c.1264_1265delAGinsGA NP_001395430.1:p.Ser422Asp missense NM_001408502.1:c.1261_1262delAGinsGA NP_001395431.1:p.Ser421Asp missense NM_001408503.1:c.1261_1262delAGinsGA NP_001395432.1:p.Ser421Asp missense NM_001408504.1:c.1261_1262delAGinsGA NP_001395433.1:p.Ser421Asp missense NM_001408505.1:c.1258_1259delAGinsGA NP_001395434.1:p.Ser420Asp missense NM_001408506.1:c.1201_1202delAGinsGA NP_001395435.1:p.Ser401Asp missense NM_001408507.1:c.1198_1199delAGinsGA NP_001395436.1:p.Ser400Asp missense NM_001408508.1:c.1189_1190delAGinsGA NP_001395437.1:p.Ser397Asp missense NM_001408509.1:c.1186_1187delAGinsGA NP_001395438.1:p.Ser396Asp missense NM_001408510.1:c.1147_1148delAGinsGA NP_001395439.1:p.Ser383Asp missense NM_001408511.1:c.1144_1145delAGinsGA NP_001395440.1:p.Ser382Asp missense NM_001408512.1:c.1024_1025delAGinsGA NP_001395441.1:p.Ser342Asp missense NM_001408513.1:c.997_998delAGinsGA NP_001395442.1:p.Ser333Asp missense NM_007294.3:c.4837_4838delAGinsGA NP_009225.1:p.Ser1613Asp missense NM_007297.4:c.4696_4697delinsGA NP_009228.2:p.Ser1566Asp missense NM_007298.4:c.1525_1526delAGinsGA NP_009229.2:p.Ser509Asp missense NM_007299.4:c.1525_1526delinsGA NP_009230.2:p.Ser509Asp missense NM_007300.4:c.4900_4901delinsGA NP_009231.2:p.Ser1634Asp missense NM_007304.2:c.1525_1526delAGinsGA NP_009235.2:p.Ser509Asp missense NR_027676.2:n.5014_5015delinsGA non-coding transcript variant NC_000017.11:g.43071076_43071077delinsTC NC_000017.10:g.41223093_41223094delinsTC NG_005905.2:g.146907_146908delinsGA LRG_292:g.146907_146908delinsGA LRG_292t1:c.4837_4838delinsGA - Protein change
- S1566D, S1634D, S1613D, S509D, S1317D, S1485D, S1500D, S1502D, S1523D, S1525D, S1546D, S1564D, S1571D, S1572D, S1608D, S1610D, S1635D, S401D, S438D, S442D, S462D, S469D, S506D, S507D, S532D, S1486D, S1501D, S1543D, S1569D, S1586D, S1594D, S1612D, S342D, S383D, S396D, S397D, S421D, S430D, S439D, S443D, S463D, S484D, S744D, S745D, S1444D, S1484D, S1524D, S1541D, S1542D, S1544D, S1570D, S1587D, S1593D, S1609D, S1611D, S1633D, S420D, S461D, S467D, S468D, S510D, S531D, S1316D, S1459D, S1565D, S1585D, S333D, S382D, S400D, S422D, S428D, S440D, S465D, S470D, S471D, S483D, S485D, S508D
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071075:CT:TC
-
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 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Apr 23, 2019 | RCV001178402.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Sep 6, 2022 | RCV001875895.4 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Apr 12, 2022 | RCV003145366.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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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
(Apr 23, 2019)
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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: SCV001342855.1
First in ClinVar: Jun 22, 2020 Last updated: Jun 22, 2020 |
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Uncertain significance
(Apr 12, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003830121.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Uncertain significance
(Sep 06, 2022)
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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: SCV002155948.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces serine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1613 of the BRCA1 protein … (more)
This sequence change replaces serine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1613 of the BRCA1 protein (p.Ser1613Asp). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 919925). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. (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 rs2052398037 ...
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.