ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5030_5033dup (p.Asn1678_Leu1679insTer)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5030_5033dup (p.Asn1678_Leu1679insTer)
Variation ID: 266515 Accession: VCV000266515.11
- Type and length
-
Duplication, 4 bp
- Location
-
Cytogenetic: 17q21.31 17: 43067648-43067649 (GRCh38) [ NCBI UCSC ] 17: 41219665-41219666 (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 Oct 22, 2016 Feb 14, 2024 Oct 18, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5030_5033dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1678_Leu1679insTer nonsense inframe insertion NM_001407571.1:c.4814_4817dup NP_001394500.1:p.Leu1608Terfs frameshift nonsense NM_001407581.1:c.5093_5096dup NP_001394510.1:p.Leu1701Terfs frameshift nonsense NM_001407582.1:c.5093_5096dup NP_001394511.1:p.Leu1701Terfs frameshift nonsense NM_001407583.1:c.5090_5093dup NP_001394512.1:p.Leu1700Terfs frameshift nonsense NM_001407585.1:c.5090_5093dup NP_001394514.1:p.Leu1700Terfs frameshift nonsense NM_001407587.1:c.5090_5093dup NP_001394516.1:p.Leu1700Terfs frameshift nonsense NM_001407590.1:c.5087_5090dup NP_001394519.1:p.Leu1699Terfs frameshift nonsense NM_001407591.1:c.5087_5090dup NP_001394520.1:p.Leu1699Terfs frameshift nonsense NM_001407593.1:c.5027_5030dup NP_001394522.1:p.Leu1679Terfs frameshift nonsense NM_001407594.1:c.5027_5030dup NP_001394523.1:p.Leu1679Terfs frameshift nonsense NM_001407596.1:c.5027_5030dup NP_001394525.1:p.Leu1679Terfs frameshift nonsense NM_001407597.1:c.5027_5030dup NP_001394526.1:p.Leu1679Terfs frameshift nonsense NM_001407598.1:c.5027_5030dup NP_001394527.1:p.Leu1679Terfs frameshift nonsense NM_001407602.1:c.5027_5030dup NP_001394531.1:p.Leu1679Terfs frameshift nonsense NM_001407603.1:c.5027_5030dup NP_001394532.1:p.Leu1679Terfs frameshift nonsense NM_001407605.1:c.5027_5030dup NP_001394534.1:p.Leu1679Terfs frameshift nonsense NM_001407610.1:c.5024_5027dup NP_001394539.1:p.Leu1678Terfs frameshift nonsense NM_001407611.1:c.5024_5027dup NP_001394540.1:p.Leu1678Terfs frameshift nonsense NM_001407612.1:c.5024_5027dup NP_001394541.1:p.Leu1678Terfs frameshift nonsense NM_001407613.1:c.5024_5027dup NP_001394542.1:p.Leu1678Terfs frameshift nonsense NM_001407614.1:c.5024_5027dup NP_001394543.1:p.Leu1678Terfs frameshift nonsense NM_001407615.1:c.5024_5027dup NP_001394544.1:p.Leu1678Terfs frameshift nonsense NM_001407616.1:c.5024_5027dup NP_001394545.1:p.Leu1678Terfs frameshift nonsense NM_001407617.1:c.5024_5027dup NP_001394546.1:p.Leu1678Terfs frameshift nonsense NM_001407618.1:c.5024_5027dup NP_001394547.1:p.Leu1678Terfs frameshift nonsense NM_001407619.1:c.5024_5027dup NP_001394548.1:p.Leu1678Terfs frameshift nonsense NM_001407620.1:c.5024_5027dup NP_001394549.1:p.Leu1678Terfs frameshift nonsense NM_001407621.1:c.5024_5027dup NP_001394550.1:p.Leu1678Terfs frameshift nonsense NM_001407622.1:c.5024_5027dup NP_001394551.1:p.Leu1678Terfs frameshift nonsense NM_001407623.1:c.5024_5027dup NP_001394552.1:p.Leu1678Terfs frameshift nonsense NM_001407624.1:c.5024_5027dup NP_001394553.1:p.Leu1678Terfs frameshift nonsense NM_001407625.1:c.5024_5027dup NP_001394554.1:p.Leu1678Terfs frameshift nonsense NM_001407626.1:c.5024_5027dup NP_001394555.1:p.Leu1678Terfs frameshift nonsense NM_001407627.1:c.5021_5024dup NP_001394556.1:p.Leu1677Terfs frameshift nonsense NM_001407628.1:c.5021_5024dup NP_001394557.1:p.Leu1677Terfs frameshift nonsense NM_001407629.1:c.5021_5024dup NP_001394558.1:p.Leu1677Terfs frameshift nonsense NM_001407630.1:c.5021_5024dup NP_001394559.1:p.Leu1677Terfs frameshift nonsense NM_001407631.1:c.5021_5024dup NP_001394560.1:p.Leu1677Terfs frameshift nonsense NM_001407632.1:c.5021_5024dup NP_001394561.1:p.Leu1677Terfs frameshift nonsense NM_001407633.1:c.5021_5024dup NP_001394562.1:p.Leu1677Terfs frameshift nonsense NM_001407634.1:c.5021_5024dup NP_001394563.1:p.Leu1677Terfs frameshift nonsense NM_001407635.1:c.5021_5024dup NP_001394564.1:p.Leu1677Terfs frameshift nonsense NM_001407636.1:c.5021_5024dup NP_001394565.1:p.Leu1677Terfs frameshift nonsense NM_001407637.1:c.5021_5024dup NP_001394566.1:p.Leu1677Terfs frameshift nonsense NM_001407638.1:c.5021_5024dup NP_001394567.1:p.Leu1677Terfs frameshift nonsense NM_001407639.1:c.5021_5024dup NP_001394568.1:p.Leu1677Terfs frameshift nonsense NM_001407640.1:c.5021_5024dup NP_001394569.1:p.Leu1677Terfs frameshift nonsense NM_001407641.1:c.5021_5024dup NP_001394570.1:p.Leu1677Terfs frameshift nonsense NM_001407642.1:c.5021_5024dup NP_001394571.1:p.Leu1677Terfs frameshift nonsense NM_001407644.1:c.5018_5021dup NP_001394573.1:p.Leu1676Terfs frameshift nonsense NM_001407645.1:c.5018_5021dup NP_001394574.1:p.Leu1676Terfs frameshift nonsense NM_001407646.1:c.5015_5018dup NP_001394575.1:p.Leu1675Terfs frameshift nonsense NM_001407647.1:c.5012_5015dup NP_001394576.1:p.Leu1674Terfs frameshift nonsense NM_001407648.1:c.4970_4973dup NP_001394577.1:p.Leu1660Terfs frameshift nonsense NM_001407649.1:c.4967_4970dup NP_001394578.1:p.Leu1659Terfs frameshift nonsense NM_001407652.1:c.5027_5030dup NP_001394581.1:p.Leu1679Terfs frameshift nonsense NM_001407653.1:c.4949_4952dup NP_001394582.1:p.Leu1653Terfs frameshift nonsense NM_001407654.1:c.4949_4952dup NP_001394583.1:p.Leu1653Terfs frameshift nonsense NM_001407655.1:c.4949_4952dup NP_001394584.1:p.Leu1653Terfs frameshift nonsense NM_001407656.1:c.4946_4949dup NP_001394585.1:p.Leu1652Terfs frameshift nonsense NM_001407657.1:c.4946_4949dup NP_001394586.1:p.Leu1652Terfs frameshift nonsense NM_001407658.1:c.4946_4949dup NP_001394587.1:p.Leu1652Terfs frameshift nonsense NM_001407659.1:c.4943_4946dup NP_001394588.1:p.Leu1651Terfs frameshift nonsense NM_001407660.1:c.4943_4946dup NP_001394589.1:p.Leu1651Terfs frameshift nonsense NM_001407661.1:c.4943_4946dup NP_001394590.1:p.Leu1651Terfs frameshift nonsense NM_001407662.1:c.4943_4946dup NP_001394591.1:p.Leu1651Terfs frameshift nonsense NM_001407663.1:c.4943_4946dup NP_001394592.1:p.Leu1651Terfs frameshift nonsense NM_001407664.1:c.4904_4907dup NP_001394593.1:p.Leu1638Terfs frameshift nonsense NM_001407665.1:c.4904_4907dup NP_001394594.1:p.Leu1638Terfs frameshift nonsense NM_001407666.1:c.4904_4907dup NP_001394595.1:p.Leu1638Terfs frameshift nonsense NM_001407667.1:c.4904_4907dup NP_001394596.1:p.Leu1638Terfs frameshift nonsense NM_001407668.1:c.4904_4907dup NP_001394597.1:p.Leu1638Terfs frameshift nonsense NM_001407669.1:c.4904_4907dup NP_001394598.1:p.Leu1638Terfs frameshift nonsense NM_001407670.1:c.4901_4904dup NP_001394599.1:p.Leu1637Terfs frameshift nonsense NM_001407671.1:c.4901_4904dup NP_001394600.1:p.Leu1637Terfs frameshift nonsense NM_001407672.1:c.4901_4904dup NP_001394601.1:p.Leu1637Terfs frameshift nonsense NM_001407673.1:c.4901_4904dup NP_001394602.1:p.Leu1637Terfs frameshift nonsense NM_001407674.1:c.4901_4904dup NP_001394603.1:p.Leu1637Terfs frameshift nonsense NM_001407675.1:c.4901_4904dup NP_001394604.1:p.Leu1637Terfs frameshift nonsense NM_001407676.1:c.4901_4904dup NP_001394605.1:p.Leu1637Terfs frameshift nonsense NM_001407677.1:c.4901_4904dup NP_001394606.1:p.Leu1637Terfs frameshift nonsense NM_001407678.1:c.4901_4904dup NP_001394607.1:p.Leu1637Terfs frameshift nonsense NM_001407679.1:c.4901_4904dup NP_001394608.1:p.Leu1637Terfs frameshift nonsense NM_001407680.1:c.4901_4904dup NP_001394609.1:p.Leu1637Terfs frameshift nonsense NM_001407681.1:c.4898_4901dup NP_001394610.1:p.Leu1636Terfs frameshift nonsense NM_001407682.1:c.4898_4901dup NP_001394611.1:p.Leu1636Terfs frameshift nonsense NM_001407683.1:c.4898_4901dup NP_001394612.1:p.Leu1636Terfs frameshift nonsense NM_001407684.1:c.5027_5030dup NP_001394613.1:p.Leu1679Terfs frameshift nonsense NM_001407685.1:c.4898_4901dup NP_001394614.1:p.Leu1636Terfs frameshift nonsense NM_001407686.1:c.4898_4901dup NP_001394615.1:p.Leu1636Terfs frameshift nonsense NM_001407687.1:c.4898_4901dup NP_001394616.1:p.Leu1636Terfs frameshift nonsense NM_001407688.1:c.4898_4901dup NP_001394617.1:p.Leu1636Terfs frameshift nonsense NM_001407689.1:c.4898_4901dup NP_001394618.1:p.Leu1636Terfs frameshift nonsense NM_001407690.1:c.4895_4898dup NP_001394619.1:p.Leu1635Terfs frameshift nonsense NM_001407691.1:c.4895_4898dup NP_001394620.1:p.Leu1635Terfs frameshift nonsense NM_001407692.1:c.4886_4889dup NP_001394621.1:p.Leu1632Terfs frameshift nonsense NM_001407694.1:c.4886_4889dup NP_001394623.1:p.Leu1632Terfs frameshift nonsense NM_001407695.1:c.4886_4889dup NP_001394624.1:p.Leu1632Terfs frameshift nonsense NM_001407696.1:c.4886_4889dup NP_001394625.1:p.Leu1632Terfs frameshift nonsense NM_001407697.1:c.4886_4889dup NP_001394626.1:p.Leu1632Terfs frameshift nonsense NM_001407698.1:c.4886_4889dup NP_001394627.1:p.Leu1632Terfs frameshift nonsense NM_001407724.1:c.4886_4889dup NP_001394653.1:p.Leu1632Terfs frameshift nonsense NM_001407725.1:c.4886_4889dup NP_001394654.1:p.Leu1632Terfs frameshift nonsense NM_001407726.1:c.4886_4889dup NP_001394655.1:p.Leu1632Terfs frameshift nonsense NM_001407727.1:c.4886_4889dup NP_001394656.1:p.Leu1632Terfs frameshift nonsense NM_001407728.1:c.4886_4889dup NP_001394657.1:p.Leu1632Terfs frameshift nonsense NM_001407729.1:c.4886_4889dup NP_001394658.1:p.Leu1632Terfs frameshift nonsense NM_001407730.1:c.4886_4889dup NP_001394659.1:p.Leu1632Terfs frameshift nonsense NM_001407731.1:c.4886_4889dup NP_001394660.1:p.Leu1632Terfs frameshift nonsense NM_001407732.1:c.4883_4886dup NP_001394661.1:p.Leu1631Terfs frameshift nonsense NM_001407733.1:c.4883_4886dup NP_001394662.1:p.Leu1631Terfs frameshift nonsense NM_001407734.1:c.4883_4886dup NP_001394663.1:p.Leu1631Terfs frameshift nonsense NM_001407735.1:c.4883_4886dup NP_001394664.1:p.Leu1631Terfs frameshift nonsense NM_001407736.1:c.4883_4886dup NP_001394665.1:p.Leu1631Terfs frameshift nonsense NM_001407737.1:c.4883_4886dup NP_001394666.1:p.Leu1631Terfs frameshift nonsense NM_001407738.1:c.4883_4886dup NP_001394667.1:p.Leu1631Terfs frameshift nonsense NM_001407739.1:c.4883_4886dup NP_001394668.1:p.Leu1631Terfs frameshift nonsense NM_001407740.1:c.4883_4886dup NP_001394669.1:p.Leu1631Terfs frameshift nonsense NM_001407741.1:c.4883_4886dup NP_001394670.1:p.Leu1631Terfs frameshift nonsense NM_001407742.1:c.4883_4886dup NP_001394671.1:p.Leu1631Terfs frameshift nonsense NM_001407743.1:c.4883_4886dup NP_001394672.1:p.Leu1631Terfs frameshift nonsense NM_001407744.1:c.4883_4886dup NP_001394673.1:p.Leu1631Terfs frameshift nonsense NM_001407745.1:c.4883_4886dup NP_001394674.1:p.Leu1631Terfs frameshift nonsense NM_001407746.1:c.4883_4886dup NP_001394675.1:p.Leu1631Terfs frameshift nonsense NM_001407747.1:c.4883_4886dup NP_001394676.1:p.Leu1631Terfs frameshift nonsense NM_001407748.1:c.4883_4886dup NP_001394677.1:p.Leu1631Terfs frameshift nonsense NM_001407749.1:c.4883_4886dup NP_001394678.1:p.Leu1631Terfs frameshift nonsense NM_001407750.1:c.4883_4886dup NP_001394679.1:p.Leu1631Terfs frameshift nonsense NM_001407751.1:c.4883_4886dup NP_001394680.1:p.Leu1631Terfs frameshift nonsense NM_001407752.1:c.4883_4886dup NP_001394681.1:p.Leu1631Terfs frameshift nonsense NM_001407838.1:c.4880_4883dup NP_001394767.1:p.Leu1630Terfs frameshift nonsense NM_001407839.1:c.4880_4883dup NP_001394768.1:p.Leu1630Terfs frameshift nonsense NM_001407841.1:c.4880_4883dup NP_001394770.1:p.Leu1630Terfs frameshift nonsense NM_001407842.1:c.4880_4883dup NP_001394771.1:p.Leu1630Terfs frameshift nonsense NM_001407843.1:c.4880_4883dup NP_001394772.1:p.Leu1630Terfs frameshift nonsense NM_001407844.1:c.4880_4883dup NP_001394773.1:p.Leu1630Terfs frameshift nonsense NM_001407845.1:c.4880_4883dup NP_001394774.1:p.Leu1630Terfs frameshift nonsense NM_001407846.1:c.4880_4883dup NP_001394775.1:p.Leu1630Terfs frameshift nonsense NM_001407847.1:c.4880_4883dup NP_001394776.1:p.Leu1630Terfs frameshift nonsense NM_001407848.1:c.4880_4883dup NP_001394777.1:p.Leu1630Terfs frameshift nonsense NM_001407849.1:c.4880_4883dup NP_001394778.1:p.Leu1630Terfs frameshift nonsense NM_001407850.1:c.4880_4883dup NP_001394779.1:p.Leu1630Terfs frameshift nonsense NM_001407851.1:c.4880_4883dup NP_001394780.1:p.Leu1630Terfs frameshift nonsense NM_001407852.1:c.4880_4883dup NP_001394781.1:p.Leu1630Terfs frameshift nonsense NM_001407853.1:c.4880_4883dup NP_001394782.1:p.Leu1630Terfs frameshift nonsense NM_001407854.1:c.5027_5030dup NP_001394783.1:p.Leu1679Terfs frameshift nonsense NM_001407858.1:c.5024_5027dup NP_001394787.1:p.Leu1678Terfs frameshift nonsense NM_001407859.1:c.5024_5027dup NP_001394788.1:p.Leu1678Terfs frameshift nonsense NM_001407860.1:c.5024_5027dup NP_001394789.1:p.Leu1678Terfs frameshift nonsense NM_001407861.1:c.5021_5024dup NP_001394790.1:p.Leu1677Terfs frameshift nonsense NM_001407862.1:c.4826_4829dup NP_001394791.1:p.Leu1612Terfs frameshift nonsense NM_001407863.1:c.4901_4904dup NP_001394792.1:p.Leu1637Terfs frameshift nonsense NM_001407874.1:c.4820_4823dup NP_001394803.1:p.Leu1610Terfs frameshift nonsense NM_001407875.1:c.4820_4823dup NP_001394804.1:p.Leu1610Terfs frameshift nonsense NM_001407879.1:c.4817_4820dup NP_001394808.1:p.Leu1609Terfs frameshift nonsense NM_001407881.1:c.4817_4820dup NP_001394810.1:p.Leu1609Terfs frameshift nonsense NM_001407882.1:c.4817_4820dup NP_001394811.1:p.Leu1609Terfs frameshift nonsense NM_001407884.1:c.4817_4820dup NP_001394813.1:p.Leu1609Terfs frameshift nonsense NM_001407885.1:c.4817_4820dup NP_001394814.1:p.Leu1609Terfs frameshift nonsense NM_001407886.1:c.4817_4820dup NP_001394815.1:p.Leu1609Terfs frameshift nonsense NM_001407887.1:c.4817_4820dup NP_001394816.1:p.Leu1609Terfs frameshift nonsense NM_001407889.1:c.4817_4820dup NP_001394818.1:p.Leu1609Terfs frameshift nonsense NM_001407894.1:c.4814_4817dup NP_001394823.1:p.Leu1608Terfs frameshift nonsense NM_001407895.1:c.4814_4817dup NP_001394824.1:p.Leu1608Terfs frameshift nonsense NM_001407896.1:c.4814_4817dup NP_001394825.1:p.Leu1608Terfs frameshift nonsense NM_001407897.1:c.4814_4817dup NP_001394826.1:p.Leu1608Terfs frameshift nonsense NM_001407898.1:c.4814_4817dup NP_001394827.1:p.Leu1608Terfs frameshift nonsense NM_001407899.1:c.4814_4817dup NP_001394828.1:p.Leu1608Terfs frameshift nonsense NM_001407900.1:c.4814_4817dup NP_001394829.1:p.Leu1608Terfs frameshift nonsense NM_001407902.1:c.4814_4817dup NP_001394831.1:p.Leu1608Terfs frameshift nonsense NM_001407904.1:c.4814_4817dup NP_001394833.1:p.Leu1608Terfs frameshift nonsense NM_001407906.1:c.4814_4817dup NP_001394835.1:p.Leu1608Terfs frameshift nonsense NM_001407907.1:c.4814_4817dup NP_001394836.1:p.Leu1608Terfs frameshift nonsense NM_001407908.1:c.4814_4817dup NP_001394837.1:p.Leu1608Terfs frameshift nonsense NM_001407909.1:c.4814_4817dup NP_001394838.1:p.Leu1608Terfs frameshift nonsense NM_001407910.1:c.4814_4817dup NP_001394839.1:p.Leu1608Terfs frameshift nonsense NM_001407915.1:c.4811_4814dup NP_001394844.1:p.Leu1607Terfs frameshift nonsense NM_001407916.1:c.4811_4814dup NP_001394845.1:p.Leu1607Terfs frameshift nonsense NM_001407917.1:c.4811_4814dup NP_001394846.1:p.Leu1607Terfs frameshift nonsense NM_001407918.1:c.4811_4814dup NP_001394847.1:p.Leu1607Terfs frameshift nonsense NM_001407919.1:c.4904_4907dup NP_001394848.1:p.Leu1638Terfs frameshift nonsense NM_001407920.1:c.4763_4766dup NP_001394849.1:p.Leu1591Terfs frameshift nonsense NM_001407921.1:c.4763_4766dup NP_001394850.1:p.Leu1591Terfs frameshift nonsense NM_001407922.1:c.4763_4766dup NP_001394851.1:p.Leu1591Terfs frameshift nonsense NM_001407923.1:c.4763_4766dup NP_001394852.1:p.Leu1591Terfs frameshift nonsense NM_001407924.1:c.4763_4766dup NP_001394853.1:p.Leu1591Terfs frameshift nonsense NM_001407925.1:c.4763_4766dup NP_001394854.1:p.Leu1591Terfs frameshift nonsense NM_001407926.1:c.4763_4766dup NP_001394855.1:p.Leu1591Terfs frameshift nonsense NM_001407927.1:c.4760_4763dup NP_001394856.1:p.Leu1590Terfs frameshift nonsense NM_001407928.1:c.4760_4763dup NP_001394857.1:p.Leu1590Terfs frameshift nonsense NM_001407929.1:c.4760_4763dup NP_001394858.1:p.Leu1590Terfs frameshift nonsense NM_001407930.1:c.4760_4763dup NP_001394859.1:p.Leu1590Terfs frameshift nonsense NM_001407931.1:c.4760_4763dup NP_001394860.1:p.Leu1590Terfs frameshift nonsense NM_001407932.1:c.4760_4763dup NP_001394861.1:p.Leu1590Terfs frameshift nonsense NM_001407933.1:c.4760_4763dup NP_001394862.1:p.Leu1590Terfs frameshift nonsense NM_001407934.1:c.4757_4760dup NP_001394863.1:p.Leu1589Terfs frameshift nonsense NM_001407935.1:c.4757_4760dup NP_001394864.1:p.Leu1589Terfs frameshift nonsense NM_001407936.1:c.4757_4760dup NP_001394865.1:p.Leu1589Terfs frameshift nonsense NM_001407937.1:c.4904_4907dup NP_001394866.1:p.Leu1638Terfs frameshift nonsense NM_001407938.1:c.4904_4907dup NP_001394867.1:p.Leu1638Terfs frameshift nonsense NM_001407939.1:c.4901_4904dup NP_001394868.1:p.Leu1637Terfs frameshift nonsense NM_001407940.1:c.4901_4904dup NP_001394869.1:p.Leu1637Terfs frameshift nonsense NM_001407941.1:c.4898_4901dup NP_001394870.1:p.Leu1636Terfs frameshift nonsense NM_001407942.1:c.4886_4889dup NP_001394871.1:p.Leu1632Terfs frameshift nonsense NM_001407943.1:c.4883_4886dup NP_001394872.1:p.Leu1631Terfs frameshift nonsense NM_001407944.1:c.4883_4886dup NP_001394873.1:p.Leu1631Terfs frameshift nonsense NM_001407945.1:c.4883_4886dup NP_001394874.1:p.Leu1631Terfs frameshift nonsense NM_001407946.1:c.4694_4697dup NP_001394875.1:p.Leu1568Terfs frameshift nonsense NM_001407947.1:c.4694_4697dup NP_001394876.1:p.Leu1568Terfs frameshift nonsense NM_001407948.1:c.4694_4697dup NP_001394877.1:p.Leu1568Terfs frameshift nonsense NM_001407949.1:c.4694_4697dup NP_001394878.1:p.Leu1568Terfs frameshift nonsense NM_001407950.1:c.4691_4694dup NP_001394879.1:p.Leu1567Terfs frameshift nonsense NM_001407951.1:c.4691_4694dup NP_001394880.1:p.Leu1567Terfs frameshift nonsense NM_001407952.1:c.4691_4694dup NP_001394881.1:p.Leu1567Terfs frameshift nonsense NM_001407953.1:c.4691_4694dup NP_001394882.1:p.Leu1567Terfs frameshift nonsense NM_001407954.1:c.4691_4694dup NP_001394883.1:p.Leu1567Terfs frameshift nonsense NM_001407955.1:c.4691_4694dup NP_001394884.1:p.Leu1567Terfs frameshift nonsense NM_001407956.1:c.4688_4691dup NP_001394885.1:p.Leu1566Terfs frameshift nonsense NM_001407957.1:c.4688_4691dup NP_001394886.1:p.Leu1566Terfs frameshift nonsense NM_001407958.1:c.4688_4691dup NP_001394887.1:p.Leu1566Terfs frameshift nonsense NM_001407959.1:c.4646_4649dup NP_001394888.1:p.Leu1552Terfs frameshift nonsense NM_001407960.1:c.4643_4646dup NP_001394889.1:p.Leu1551Terfs frameshift nonsense NM_001407962.1:c.4643_4646dup NP_001394891.1:p.Leu1551Terfs frameshift nonsense NM_001407963.1:c.4640_4643dup NP_001394892.1:p.Leu1550Terfs frameshift nonsense NM_001407964.1:c.4565_4568dup NP_001394893.1:p.Leu1525Terfs frameshift nonsense NM_001407965.1:c.4520_4523dup NP_001394894.1:p.Leu1510Terfs frameshift nonsense NM_001407966.1:c.4139_4142dup NP_001394895.1:p.Leu1383Terfs frameshift nonsense NM_001407967.1:c.4136_4139dup NP_001394896.1:p.Leu1382Terfs frameshift nonsense NM_001407968.1:c.2423_2426dup NP_001394897.1:p.Leu811Terfs frameshift nonsense NM_001407969.1:c.2420_2423dup NP_001394898.1:p.Leu810Terfs frameshift nonsense NM_001407970.1:c.1784_1787dup NP_001394899.1:p.Leu598Terfs frameshift nonsense NM_001407971.1:c.1784_1787dup NP_001394900.1:p.Leu598Terfs frameshift nonsense NM_001407972.1:c.1781_1784dup NP_001394901.1:p.Leu597Terfs frameshift nonsense NM_001407973.1:c.1718_1721dup NP_001394902.1:p.Leu576Terfs frameshift nonsense NM_001407974.1:c.1718_1721dup NP_001394903.1:p.Leu576Terfs frameshift nonsense NM_001407975.1:c.1718_1721dup NP_001394904.1:p.Leu576Terfs frameshift nonsense NM_001407976.1:c.1718_1721dup NP_001394905.1:p.Leu576Terfs frameshift nonsense NM_001407977.1:c.1718_1721dup NP_001394906.1:p.Leu576Terfs frameshift nonsense NM_001407978.1:c.1718_1721dup NP_001394907.1:p.Leu576Terfs frameshift nonsense NM_001407979.1:c.1715_1718dup NP_001394908.1:p.Leu575Terfs frameshift nonsense NM_001407980.1:c.1715_1718dup NP_001394909.1:p.Leu575Terfs frameshift nonsense NM_001407981.1:c.1715_1718dup NP_001394910.1:p.Leu575Terfs frameshift nonsense NM_001407982.1:c.1715_1718dup NP_001394911.1:p.Leu575Terfs frameshift nonsense NM_001407983.1:c.1715_1718dup NP_001394912.1:p.Leu575Terfs frameshift nonsense NM_001407984.1:c.1715_1718dup NP_001394913.1:p.Leu575Terfs frameshift nonsense NM_001407985.1:c.1715_1718dup NP_001394914.1:p.Leu575Terfs frameshift nonsense NM_001407986.1:c.1715_1718dup NP_001394915.1:p.Leu575Terfs frameshift nonsense NM_001407990.1:c.1715_1718dup NP_001394919.1:p.Leu575Terfs frameshift nonsense NM_001407991.1:c.1715_1718dup NP_001394920.1:p.Leu575Terfs frameshift nonsense NM_001407992.1:c.1715_1718dup NP_001394921.1:p.Leu575Terfs frameshift nonsense NM_001407993.1:c.1715_1718dup NP_001394922.1:p.Leu575Terfs frameshift nonsense NM_001408392.1:c.1712_1715dup NP_001395321.1:p.Leu574Terfs frameshift nonsense NM_001408396.1:c.1712_1715dup NP_001395325.1:p.Leu574Terfs frameshift nonsense NM_001408397.1:c.1712_1715dup NP_001395326.1:p.Leu574Terfs frameshift nonsense NM_001408398.1:c.1712_1715dup NP_001395327.1:p.Leu574Terfs frameshift nonsense NM_001408399.1:c.1712_1715dup NP_001395328.1:p.Leu574Terfs frameshift nonsense NM_001408400.1:c.1712_1715dup NP_001395329.1:p.Leu574Terfs frameshift nonsense NM_001408401.1:c.1712_1715dup NP_001395330.1:p.Leu574Terfs frameshift nonsense NM_001408402.1:c.1712_1715dup NP_001395331.1:p.Leu574Terfs frameshift nonsense NM_001408403.1:c.1712_1715dup NP_001395332.1:p.Leu574Terfs frameshift nonsense NM_001408404.1:c.1712_1715dup NP_001395333.1:p.Leu574Terfs frameshift nonsense NM_001408406.1:c.1709_1712dup NP_001395335.1:p.Leu573Terfs frameshift nonsense NM_001408407.1:c.1709_1712dup NP_001395336.1:p.Leu573Terfs frameshift nonsense NM_001408408.1:c.1709_1712dup NP_001395337.1:p.Leu573Terfs frameshift nonsense NM_001408409.1:c.1706_1709dup NP_001395338.1:p.Leu572Terfs frameshift nonsense NM_001408410.1:c.1643_1646dup NP_001395339.1:p.Leu551Terfs frameshift nonsense NM_001408411.1:c.1640_1643dup NP_001395340.1:p.Leu550Terfs frameshift nonsense NM_001408412.1:c.1637_1640dup NP_001395341.1:p.Leu549Terfs frameshift nonsense NM_001408413.1:c.1637_1640dup NP_001395342.1:p.Leu549Terfs frameshift nonsense NM_001408414.1:c.1637_1640dup NP_001395343.1:p.Leu549Terfs frameshift nonsense NM_001408415.1:c.1637_1640dup NP_001395344.1:p.Leu549Terfs frameshift nonsense NM_001408416.1:c.1637_1640dup NP_001395345.1:p.Leu549Terfs frameshift nonsense NM_001408418.1:c.1601_1604dup NP_001395347.1:p.Leu537Terfs frameshift nonsense NM_001408419.1:c.1601_1604dup NP_001395348.1:p.Leu537Terfs frameshift nonsense NM_001408420.1:c.1601_1604dup NP_001395349.1:p.Leu537Terfs frameshift nonsense NM_001408421.1:c.1598_1601dup NP_001395350.1:p.Leu536Terfs frameshift nonsense NM_001408422.1:c.1598_1601dup NP_001395351.1:p.Leu536Terfs frameshift nonsense NM_001408423.1:c.1598_1601dup NP_001395352.1:p.Leu536Terfs frameshift nonsense NM_001408424.1:c.1598_1601dup NP_001395353.1:p.Leu536Terfs frameshift nonsense NM_001408425.1:c.1595_1598dup NP_001395354.1:p.Leu535Terfs frameshift nonsense NM_001408426.1:c.1595_1598dup NP_001395355.1:p.Leu535Terfs frameshift nonsense NM_001408427.1:c.1595_1598dup NP_001395356.1:p.Leu535Terfs frameshift nonsense NM_001408428.1:c.1595_1598dup NP_001395357.1:p.Leu535Terfs frameshift nonsense NM_001408429.1:c.1595_1598dup NP_001395358.1:p.Leu535Terfs frameshift nonsense NM_001408430.1:c.1595_1598dup NP_001395359.1:p.Leu535Terfs frameshift nonsense NM_001408431.1:c.1595_1598dup NP_001395360.1:p.Leu535Terfs frameshift nonsense NM_001408432.1:c.1592_1595dup NP_001395361.1:p.Leu534Terfs frameshift nonsense NM_001408433.1:c.1592_1595dup NP_001395362.1:p.Leu534Terfs frameshift nonsense NM_001408434.1:c.1592_1595dup NP_001395363.1:p.Leu534Terfs frameshift nonsense NM_001408435.1:c.1592_1595dup NP_001395364.1:p.Leu534Terfs frameshift nonsense NM_001408436.1:c.1592_1595dup NP_001395365.1:p.Leu534Terfs frameshift nonsense NM_001408437.1:c.1592_1595dup NP_001395366.1:p.Leu534Terfs frameshift nonsense NM_001408438.1:c.1592_1595dup NP_001395367.1:p.Leu534Terfs frameshift nonsense NM_001408439.1:c.1592_1595dup NP_001395368.1:p.Leu534Terfs frameshift nonsense NM_001408440.1:c.1592_1595dup NP_001395369.1:p.Leu534Terfs frameshift nonsense NM_001408441.1:c.1592_1595dup NP_001395370.1:p.Leu534Terfs frameshift nonsense NM_001408442.1:c.1592_1595dup NP_001395371.1:p.Leu534Terfs frameshift nonsense NM_001408443.1:c.1592_1595dup NP_001395372.1:p.Leu534Terfs frameshift nonsense NM_001408444.1:c.1592_1595dup NP_001395373.1:p.Leu534Terfs frameshift nonsense NM_001408445.1:c.1589_1592dup NP_001395374.1:p.Leu533Terfs frameshift nonsense NM_001408446.1:c.1589_1592dup NP_001395375.1:p.Leu533Terfs frameshift nonsense NM_001408447.1:c.1589_1592dup NP_001395376.1:p.Leu533Terfs frameshift nonsense NM_001408448.1:c.1589_1592dup NP_001395377.1:p.Leu533Terfs frameshift nonsense NM_001408450.1:c.1589_1592dup NP_001395379.1:p.Leu533Terfs frameshift nonsense NM_001408451.1:c.1583_1586dup NP_001395380.1:p.Leu531Terfs frameshift nonsense NM_001408452.1:c.1577_1580dup NP_001395381.1:p.Leu529Terfs frameshift nonsense NM_001408453.1:c.1577_1580dup NP_001395382.1:p.Leu529Terfs frameshift nonsense NM_001408454.1:c.1577_1580dup NP_001395383.1:p.Leu529Terfs frameshift nonsense NM_001408455.1:c.1577_1580dup NP_001395384.1:p.Leu529Terfs frameshift nonsense NM_001408456.1:c.1577_1580dup NP_001395385.1:p.Leu529Terfs frameshift nonsense NM_001408457.1:c.1577_1580dup NP_001395386.1:p.Leu529Terfs frameshift nonsense NM_001408458.1:c.1574_1577dup NP_001395387.1:p.Leu528Terfs frameshift nonsense NM_001408459.1:c.1574_1577dup NP_001395388.1:p.Leu528Terfs frameshift nonsense NM_001408460.1:c.1574_1577dup NP_001395389.1:p.Leu528Terfs frameshift nonsense NM_001408461.1:c.1574_1577dup NP_001395390.1:p.Leu528Terfs frameshift nonsense NM_001408462.1:c.1574_1577dup NP_001395391.1:p.Leu528Terfs frameshift nonsense NM_001408463.1:c.1574_1577dup NP_001395392.1:p.Leu528Terfs frameshift nonsense NM_001408464.1:c.1574_1577dup NP_001395393.1:p.Leu528Terfs frameshift nonsense NM_001408465.1:c.1574_1577dup NP_001395394.1:p.Leu528Terfs frameshift nonsense NM_001408466.1:c.1574_1577dup NP_001395395.1:p.Leu528Terfs frameshift nonsense NM_001408467.1:c.1574_1577dup NP_001395396.1:p.Leu528Terfs frameshift nonsense NM_001408468.1:c.1571_1574dup NP_001395397.1:p.Leu527Terfs frameshift nonsense NM_001408469.1:c.1571_1574dup NP_001395398.1:p.Leu527Terfs frameshift nonsense NM_001408470.1:c.1571_1574dup NP_001395399.1:p.Leu527Terfs frameshift nonsense NM_001408472.1:c.1715_1718dup NP_001395401.1:p.Leu575Terfs frameshift nonsense NM_001408473.1:c.1712_1715dup NP_001395402.1:p.Leu574Terfs frameshift nonsense NM_001408474.1:c.1517_1520dup NP_001395403.1:p.Leu509Terfs frameshift nonsense NM_001408475.1:c.1514_1517dup NP_001395404.1:p.Leu508Terfs frameshift nonsense NM_001408476.1:c.1514_1517dup NP_001395405.1:p.Leu508Terfs frameshift nonsense NM_001408478.1:c.1508_1511dup NP_001395407.1:p.Leu506Terfs frameshift nonsense NM_001408479.1:c.1508_1511dup NP_001395408.1:p.Leu506Terfs frameshift nonsense NM_001408480.1:c.1508_1511dup NP_001395409.1:p.Leu506Terfs frameshift nonsense NM_001408481.1:c.1505_1508dup NP_001395410.1:p.Leu505Terfs frameshift nonsense NM_001408482.1:c.1505_1508dup NP_001395411.1:p.Leu505Terfs frameshift nonsense NM_001408483.1:c.1505_1508dup NP_001395412.1:p.Leu505Terfs frameshift nonsense NM_001408484.1:c.1505_1508dup NP_001395413.1:p.Leu505Terfs frameshift nonsense NM_001408485.1:c.1505_1508dup NP_001395414.1:p.Leu505Terfs frameshift nonsense NM_001408489.1:c.1505_1508dup NP_001395418.1:p.Leu505Terfs frameshift nonsense NM_001408490.1:c.1505_1508dup NP_001395419.1:p.Leu505Terfs frameshift nonsense NM_001408491.1:c.1505_1508dup NP_001395420.1:p.Leu505Terfs frameshift nonsense NM_001408492.1:c.1502_1505dup NP_001395421.1:p.Leu504Terfs frameshift nonsense NM_001408493.1:c.1502_1505dup NP_001395422.1:p.Leu504Terfs frameshift nonsense NM_001408494.1:c.1478_1481dup NP_001395423.1:p.Leu496Terfs frameshift nonsense NM_001408495.1:c.1472_1475dup NP_001395424.1:p.Leu494Terfs frameshift nonsense NM_001408496.1:c.1454_1457dup NP_001395425.1:p.Leu488Terfs frameshift nonsense NM_001408497.1:c.1454_1457dup NP_001395426.1:p.Leu488Terfs frameshift nonsense NM_001408498.1:c.1454_1457dup NP_001395427.1:p.Leu488Terfs frameshift nonsense NM_001408499.1:c.1454_1457dup NP_001395428.1:p.Leu488Terfs frameshift nonsense NM_001408500.1:c.1454_1457dup NP_001395429.1:p.Leu488Terfs frameshift nonsense NM_001408501.1:c.1454_1457dup NP_001395430.1:p.Leu488Terfs frameshift nonsense NM_001408502.1:c.1451_1454dup NP_001395431.1:p.Leu487Terfs frameshift nonsense NM_001408503.1:c.1451_1454dup NP_001395432.1:p.Leu487Terfs frameshift nonsense NM_001408504.1:c.1451_1454dup NP_001395433.1:p.Leu487Terfs frameshift nonsense NM_001408505.1:c.1448_1451dup NP_001395434.1:p.Leu486Terfs frameshift nonsense NM_001408506.1:c.1391_1394dup NP_001395435.1:p.Leu467Terfs frameshift nonsense NM_001408507.1:c.1388_1391dup NP_001395436.1:p.Leu466Terfs frameshift nonsense NM_001408508.1:c.1379_1382dup NP_001395437.1:p.Leu463Terfs frameshift nonsense NM_001408509.1:c.1376_1379dup NP_001395438.1:p.Leu462Terfs frameshift nonsense NM_001408510.1:c.1337_1340dup NP_001395439.1:p.Leu449Terfs frameshift nonsense NM_001408511.1:c.1334_1337dup NP_001395440.1:p.Leu448Terfs frameshift nonsense NM_001408512.1:c.1214_1217dup NP_001395441.1:p.Leu408Terfs frameshift nonsense NM_001408513.1:c.1187_1190dup NP_001395442.1:p.Leu399Terfs frameshift nonsense NM_007294.3:c.5030_5033dup NP_009225.1:p.Leu1679_Ile1680insTer frameshift nonsense NM_007294.3:c.5030_5033dupCTAA frameshift nonsense NM_007297.4:c.4889_4892dup NP_009228.2:p.Asn1631_Leu1632insTer nonsense inframe insertion NM_007298.4:c.1715_1718dup NP_009229.2:p.Leu575Terfs frameshift nonsense NM_007299.4:c.1718_1721dup NP_009230.2:p.Asn574_Leu575insTer nonsense inframe insertion NM_007300.4:c.5093_5096dup NP_009231.2:p.Asn1699_Leu1700insTer nonsense inframe insertion NM_007304.2:c.1715_1718dup NP_009235.2:p.Leu575Terfs frameshift nonsense NR_027676.2:n.5207_5210dup non-coding transcript variant NC_000017.11:g.43067652_43067655dup NC_000017.10:g.41219669_41219672dup NG_005905.2:g.150332_150335dup LRG_292:g.150332_150335dup LRG_292t1:c.5027_5030dup LRG_292p1:p.Leu1679Terfs - Protein change
- Other names
- 5145insTAAC Leu1679ter
- Canonical SPDI
- NC_000017.11:43067648:TTAGTTA:TTAGTTAGTTA
-
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.
-
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 |
12795 | 14565 |
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. |
---|---|---|---|---|
Pathogenic (3) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000256746.7 | |
Pathogenic (1) |
criteria provided, single submitter
|
Sep 19, 2018 | RCV000812457.7 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323824.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326111.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Sep 19, 2018)
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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
|
Invitae
Accession: SCV000952771.4
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in families with increased risk of breast and/or ovarian cancer (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 266515). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1679*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
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Pathogenic
(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
|
BRCAlab, Lund University
Accession: SCV004243960.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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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 |
---|---|---|---|---|
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs80357580 ...
HelpRecord last updated Mar 30, 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.