ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4934_4935insAA (p.Val1646fs)
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.4934_4935insAA (p.Val1646fs)
Variation ID: 431268 Accession: VCV000431268.2
- Type and length
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Insertion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43070979-43070980 (GRCh38) [ NCBI UCSC ] 17: 41222996-41222997 (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 Aug 7, 2017 Aug 7, 2017 Jan 31, 2014 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4934_4935insAA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1646fs frameshift NM_001407571.1:c.4721_4722insAA NP_001394500.1:p.Val1575Argfs frameshift NM_001407581.1:c.5000_5001insAA NP_001394510.1:p.Val1668Argfs frameshift NM_001407582.1:c.5000_5001insAA NP_001394511.1:p.Val1668Argfs frameshift NM_001407583.1:c.4997_4998insAA NP_001394512.1:p.Val1667Argfs frameshift NM_001407585.1:c.4997_4998insAA NP_001394514.1:p.Val1667Argfs frameshift NM_001407587.1:c.4997_4998insAA NP_001394516.1:p.Val1667Argfs frameshift NM_001407590.1:c.4994_4995insAA NP_001394519.1:p.Val1666Argfs frameshift NM_001407591.1:c.4994_4995insAA NP_001394520.1:p.Val1666Argfs frameshift NM_001407593.1:c.4934_4935insAA NP_001394522.1:p.Val1646Argfs frameshift NM_001407594.1:c.4934_4935insAA NP_001394523.1:p.Val1646Argfs frameshift NM_001407596.1:c.4934_4935insAA NP_001394525.1:p.Val1646Argfs frameshift NM_001407597.1:c.4934_4935insAA NP_001394526.1:p.Val1646Argfs frameshift NM_001407598.1:c.4934_4935insAA NP_001394527.1:p.Val1646Argfs frameshift NM_001407602.1:c.4934_4935insAA NP_001394531.1:p.Val1646Argfs frameshift NM_001407603.1:c.4934_4935insAA NP_001394532.1:p.Val1646Argfs frameshift NM_001407605.1:c.4934_4935insAA NP_001394534.1:p.Val1646Argfs frameshift NM_001407610.1:c.4931_4932insAA NP_001394539.1:p.Val1645Argfs frameshift NM_001407611.1:c.4931_4932insAA NP_001394540.1:p.Val1645Argfs frameshift NM_001407612.1:c.4931_4932insAA NP_001394541.1:p.Val1645Argfs frameshift NM_001407613.1:c.4931_4932insAA NP_001394542.1:p.Val1645Argfs frameshift NM_001407614.1:c.4931_4932insAA NP_001394543.1:p.Val1645Argfs frameshift NM_001407615.1:c.4931_4932insAA NP_001394544.1:p.Val1645Argfs frameshift NM_001407616.1:c.4931_4932insAA NP_001394545.1:p.Val1645Argfs frameshift NM_001407617.1:c.4931_4932insAA NP_001394546.1:p.Val1645Argfs frameshift NM_001407618.1:c.4931_4932insAA NP_001394547.1:p.Val1645Argfs frameshift NM_001407619.1:c.4931_4932insAA NP_001394548.1:p.Val1645Argfs frameshift NM_001407620.1:c.4931_4932insAA NP_001394549.1:p.Val1645Argfs frameshift NM_001407621.1:c.4931_4932insAA NP_001394550.1:p.Val1645Argfs frameshift NM_001407622.1:c.4931_4932insAA NP_001394551.1:p.Val1645Argfs frameshift NM_001407623.1:c.4931_4932insAA NP_001394552.1:p.Val1645Argfs frameshift NM_001407624.1:c.4931_4932insAA NP_001394553.1:p.Val1645Argfs frameshift NM_001407625.1:c.4931_4932insAA NP_001394554.1:p.Val1645Argfs frameshift NM_001407626.1:c.4931_4932insAA NP_001394555.1:p.Val1645Argfs frameshift NM_001407627.1:c.4928_4929insAA NP_001394556.1:p.Val1644Argfs frameshift NM_001407628.1:c.4928_4929insAA NP_001394557.1:p.Val1644Argfs frameshift NM_001407629.1:c.4928_4929insAA NP_001394558.1:p.Val1644Argfs frameshift NM_001407630.1:c.4928_4929insAA NP_001394559.1:p.Val1644Argfs frameshift NM_001407631.1:c.4928_4929insAA NP_001394560.1:p.Val1644Argfs frameshift NM_001407632.1:c.4928_4929insAA NP_001394561.1:p.Val1644Argfs frameshift NM_001407633.1:c.4928_4929insAA NP_001394562.1:p.Val1644Argfs frameshift NM_001407634.1:c.4928_4929insAA NP_001394563.1:p.Val1644Argfs frameshift NM_001407635.1:c.4928_4929insAA NP_001394564.1:p.Val1644Argfs frameshift NM_001407636.1:c.4928_4929insAA NP_001394565.1:p.Val1644Argfs frameshift NM_001407637.1:c.4928_4929insAA NP_001394566.1:p.Val1644Argfs frameshift NM_001407638.1:c.4928_4929insAA NP_001394567.1:p.Val1644Argfs frameshift NM_001407639.1:c.4928_4929insAA NP_001394568.1:p.Val1644Argfs frameshift NM_001407640.1:c.4928_4929insAA NP_001394569.1:p.Val1644Argfs frameshift NM_001407641.1:c.4928_4929insAA NP_001394570.1:p.Val1644Argfs frameshift NM_001407642.1:c.4928_4929insAA NP_001394571.1:p.Val1644Argfs frameshift NM_001407644.1:c.4925_4926insAA NP_001394573.1:p.Val1643Argfs frameshift NM_001407645.1:c.4925_4926insAA NP_001394574.1:p.Val1643Argfs frameshift NM_001407646.1:c.4922_4923insAA NP_001394575.1:p.Val1642Argfs frameshift NM_001407647.1:c.4919_4920insAA NP_001394576.1:p.Val1641Argfs frameshift NM_001407648.1:c.4877_4878insAA NP_001394577.1:p.Val1627Argfs frameshift NM_001407649.1:c.4874_4875insAA NP_001394578.1:p.Val1626Argfs frameshift NM_001407652.1:c.4934_4935insAA NP_001394581.1:p.Val1646Argfs frameshift NM_001407653.1:c.4856_4857insAA NP_001394582.1:p.Val1620Argfs frameshift NM_001407654.1:c.4856_4857insAA NP_001394583.1:p.Val1620Argfs frameshift NM_001407655.1:c.4856_4857insAA NP_001394584.1:p.Val1620Argfs frameshift NM_001407656.1:c.4853_4854insAA NP_001394585.1:p.Val1619Argfs frameshift NM_001407657.1:c.4853_4854insAA NP_001394586.1:p.Val1619Argfs frameshift NM_001407658.1:c.4853_4854insAA NP_001394587.1:p.Val1619Argfs frameshift NM_001407659.1:c.4850_4851insAA NP_001394588.1:p.Val1618Argfs frameshift NM_001407660.1:c.4850_4851insAA NP_001394589.1:p.Val1618Argfs frameshift NM_001407661.1:c.4850_4851insAA NP_001394590.1:p.Val1618Argfs frameshift NM_001407662.1:c.4850_4851insAA NP_001394591.1:p.Val1618Argfs frameshift NM_001407663.1:c.4850_4851insAA NP_001394592.1:p.Val1618Argfs frameshift NM_001407664.1:c.4811_4812insAA NP_001394593.1:p.Val1605Argfs frameshift NM_001407665.1:c.4811_4812insAA NP_001394594.1:p.Val1605Argfs frameshift NM_001407666.1:c.4811_4812insAA NP_001394595.1:p.Val1605Argfs frameshift NM_001407667.1:c.4811_4812insAA NP_001394596.1:p.Val1605Argfs frameshift NM_001407668.1:c.4811_4812insAA NP_001394597.1:p.Val1605Argfs frameshift NM_001407669.1:c.4811_4812insAA NP_001394598.1:p.Val1605Argfs frameshift NM_001407670.1:c.4808_4809insAA NP_001394599.1:p.Val1604Argfs frameshift NM_001407671.1:c.4808_4809insAA NP_001394600.1:p.Val1604Argfs frameshift NM_001407672.1:c.4808_4809insAA NP_001394601.1:p.Val1604Argfs frameshift NM_001407673.1:c.4808_4809insAA NP_001394602.1:p.Val1604Argfs frameshift NM_001407674.1:c.4808_4809insAA NP_001394603.1:p.Val1604Argfs frameshift NM_001407675.1:c.4808_4809insAA NP_001394604.1:p.Val1604Argfs frameshift NM_001407676.1:c.4808_4809insAA NP_001394605.1:p.Val1604Argfs frameshift NM_001407677.1:c.4808_4809insAA NP_001394606.1:p.Val1604Argfs frameshift NM_001407678.1:c.4808_4809insAA NP_001394607.1:p.Val1604Argfs frameshift NM_001407679.1:c.4808_4809insAA NP_001394608.1:p.Val1604Argfs frameshift NM_001407680.1:c.4808_4809insAA NP_001394609.1:p.Val1604Argfs frameshift NM_001407681.1:c.4805_4806insAA NP_001394610.1:p.Val1603Argfs frameshift NM_001407682.1:c.4805_4806insAA NP_001394611.1:p.Val1603Argfs frameshift NM_001407683.1:c.4805_4806insAA NP_001394612.1:p.Val1603Argfs frameshift NM_001407684.1:c.4934_4935insAA NP_001394613.1:p.Val1646Argfs frameshift NM_001407685.1:c.4805_4806insAA NP_001394614.1:p.Val1603Argfs frameshift NM_001407686.1:c.4805_4806insAA NP_001394615.1:p.Val1603Argfs frameshift NM_001407687.1:c.4805_4806insAA NP_001394616.1:p.Val1603Argfs frameshift NM_001407688.1:c.4805_4806insAA NP_001394617.1:p.Val1603Argfs frameshift NM_001407689.1:c.4805_4806insAA NP_001394618.1:p.Val1603Argfs frameshift NM_001407690.1:c.4802_4803insAA NP_001394619.1:p.Val1602Argfs frameshift NM_001407691.1:c.4802_4803insAA NP_001394620.1:p.Val1602Argfs frameshift NM_001407692.1:c.4793_4794insAA NP_001394621.1:p.Val1599Argfs frameshift NM_001407694.1:c.4793_4794insAA NP_001394623.1:p.Val1599Argfs frameshift NM_001407695.1:c.4793_4794insAA NP_001394624.1:p.Val1599Argfs frameshift NM_001407696.1:c.4793_4794insAA NP_001394625.1:p.Val1599Argfs frameshift NM_001407697.1:c.4793_4794insAA NP_001394626.1:p.Val1599Argfs frameshift NM_001407698.1:c.4793_4794insAA NP_001394627.1:p.Val1599Argfs frameshift NM_001407724.1:c.4793_4794insAA NP_001394653.1:p.Val1599Argfs frameshift NM_001407725.1:c.4793_4794insAA NP_001394654.1:p.Val1599Argfs frameshift NM_001407726.1:c.4793_4794insAA NP_001394655.1:p.Val1599Argfs frameshift NM_001407727.1:c.4793_4794insAA NP_001394656.1:p.Val1599Argfs frameshift NM_001407728.1:c.4793_4794insAA NP_001394657.1:p.Val1599Argfs frameshift NM_001407729.1:c.4793_4794insAA NP_001394658.1:p.Val1599Argfs frameshift NM_001407730.1:c.4793_4794insAA NP_001394659.1:p.Val1599Argfs frameshift NM_001407731.1:c.4793_4794insAA NP_001394660.1:p.Val1599Argfs frameshift NM_001407732.1:c.4790_4791insAA NP_001394661.1:p.Val1598Argfs frameshift NM_001407733.1:c.4790_4791insAA NP_001394662.1:p.Val1598Argfs frameshift NM_001407734.1:c.4790_4791insAA NP_001394663.1:p.Val1598Argfs frameshift NM_001407735.1:c.4790_4791insAA NP_001394664.1:p.Val1598Argfs frameshift NM_001407736.1:c.4790_4791insAA NP_001394665.1:p.Val1598Argfs frameshift NM_001407737.1:c.4790_4791insAA NP_001394666.1:p.Val1598Argfs frameshift NM_001407738.1:c.4790_4791insAA NP_001394667.1:p.Val1598Argfs frameshift NM_001407739.1:c.4790_4791insAA NP_001394668.1:p.Val1598Argfs frameshift NM_001407740.1:c.4790_4791insAA NP_001394669.1:p.Val1598Argfs frameshift NM_001407741.1:c.4790_4791insAA NP_001394670.1:p.Val1598Argfs frameshift NM_001407742.1:c.4790_4791insAA NP_001394671.1:p.Val1598Argfs frameshift NM_001407743.1:c.4790_4791insAA NP_001394672.1:p.Val1598Argfs frameshift NM_001407744.1:c.4790_4791insAA NP_001394673.1:p.Val1598Argfs frameshift NM_001407745.1:c.4790_4791insAA NP_001394674.1:p.Val1598Argfs frameshift NM_001407746.1:c.4790_4791insAA NP_001394675.1:p.Val1598Argfs frameshift NM_001407747.1:c.4790_4791insAA NP_001394676.1:p.Val1598Argfs frameshift NM_001407748.1:c.4790_4791insAA NP_001394677.1:p.Val1598Argfs frameshift NM_001407749.1:c.4790_4791insAA NP_001394678.1:p.Val1598Argfs frameshift NM_001407750.1:c.4790_4791insAA NP_001394679.1:p.Val1598Argfs frameshift NM_001407751.1:c.4790_4791insAA NP_001394680.1:p.Val1598Argfs frameshift NM_001407752.1:c.4790_4791insAA NP_001394681.1:p.Val1598Argfs frameshift NM_001407838.1:c.4787_4788insAA NP_001394767.1:p.Val1597Argfs frameshift NM_001407839.1:c.4787_4788insAA NP_001394768.1:p.Val1597Argfs frameshift NM_001407841.1:c.4787_4788insAA NP_001394770.1:p.Val1597Argfs frameshift NM_001407842.1:c.4787_4788insAA NP_001394771.1:p.Val1597Argfs frameshift NM_001407843.1:c.4787_4788insAA NP_001394772.1:p.Val1597Argfs frameshift NM_001407844.1:c.4787_4788insAA NP_001394773.1:p.Val1597Argfs frameshift NM_001407845.1:c.4787_4788insAA NP_001394774.1:p.Val1597Argfs frameshift NM_001407846.1:c.4787_4788insAA NP_001394775.1:p.Val1597Argfs frameshift NM_001407847.1:c.4787_4788insAA NP_001394776.1:p.Val1597Argfs frameshift NM_001407848.1:c.4787_4788insAA NP_001394777.1:p.Val1597Argfs frameshift NM_001407849.1:c.4787_4788insAA NP_001394778.1:p.Val1597Argfs frameshift NM_001407850.1:c.4787_4788insAA NP_001394779.1:p.Val1597Argfs frameshift NM_001407851.1:c.4787_4788insAA NP_001394780.1:p.Val1597Argfs frameshift NM_001407852.1:c.4787_4788insAA NP_001394781.1:p.Val1597Argfs frameshift NM_001407853.1:c.4787_4788insAA NP_001394782.1:p.Val1597Argfs frameshift NM_001407854.1:c.4934_4935insAA NP_001394783.1:p.Val1646Argfs frameshift NM_001407858.1:c.4931_4932insAA NP_001394787.1:p.Val1645Argfs frameshift NM_001407859.1:c.4931_4932insAA NP_001394788.1:p.Val1645Argfs frameshift NM_001407860.1:c.4931_4932insAA NP_001394789.1:p.Val1645Argfs frameshift NM_001407861.1:c.4928_4929insAA NP_001394790.1:p.Val1644Argfs frameshift NM_001407862.1:c.4733_4734insAA NP_001394791.1:p.Val1579Argfs frameshift NM_001407863.1:c.4808_4809insAA NP_001394792.1:p.Val1604Argfs frameshift NM_001407874.1:c.4727_4728insAA NP_001394803.1:p.Val1577Argfs frameshift NM_001407875.1:c.4727_4728insAA NP_001394804.1:p.Val1577Argfs frameshift NM_001407879.1:c.4724_4725insAA NP_001394808.1:p.Val1576Argfs frameshift NM_001407881.1:c.4724_4725insAA NP_001394810.1:p.Val1576Argfs frameshift NM_001407882.1:c.4724_4725insAA NP_001394811.1:p.Val1576Argfs frameshift NM_001407884.1:c.4724_4725insAA NP_001394813.1:p.Val1576Argfs frameshift NM_001407885.1:c.4724_4725insAA NP_001394814.1:p.Val1576Argfs frameshift NM_001407886.1:c.4724_4725insAA NP_001394815.1:p.Val1576Argfs frameshift NM_001407887.1:c.4724_4725insAA NP_001394816.1:p.Val1576Argfs frameshift NM_001407889.1:c.4724_4725insAA NP_001394818.1:p.Val1576Argfs frameshift NM_001407894.1:c.4721_4722insAA NP_001394823.1:p.Val1575Argfs frameshift NM_001407895.1:c.4721_4722insAA NP_001394824.1:p.Val1575Argfs frameshift NM_001407896.1:c.4721_4722insAA NP_001394825.1:p.Val1575Argfs frameshift NM_001407897.1:c.4721_4722insAA NP_001394826.1:p.Val1575Argfs frameshift NM_001407898.1:c.4721_4722insAA NP_001394827.1:p.Val1575Argfs frameshift NM_001407899.1:c.4721_4722insAA NP_001394828.1:p.Val1575Argfs frameshift NM_001407900.1:c.4721_4722insAA NP_001394829.1:p.Val1575Argfs frameshift NM_001407902.1:c.4721_4722insAA NP_001394831.1:p.Val1575Argfs frameshift NM_001407904.1:c.4721_4722insAA NP_001394833.1:p.Val1575Argfs frameshift NM_001407906.1:c.4721_4722insAA NP_001394835.1:p.Val1575Argfs frameshift NM_001407907.1:c.4721_4722insAA NP_001394836.1:p.Val1575Argfs frameshift NM_001407908.1:c.4721_4722insAA NP_001394837.1:p.Val1575Argfs frameshift NM_001407909.1:c.4721_4722insAA NP_001394838.1:p.Val1575Argfs frameshift NM_001407910.1:c.4721_4722insAA NP_001394839.1:p.Val1575Argfs frameshift NM_001407915.1:c.4718_4719insAA NP_001394844.1:p.Val1574Argfs frameshift NM_001407916.1:c.4718_4719insAA NP_001394845.1:p.Val1574Argfs frameshift NM_001407917.1:c.4718_4719insAA NP_001394846.1:p.Val1574Argfs frameshift NM_001407918.1:c.4718_4719insAA NP_001394847.1:p.Val1574Argfs frameshift NM_001407919.1:c.4811_4812insAA NP_001394848.1:p.Val1605Argfs frameshift NM_001407920.1:c.4670_4671insAA NP_001394849.1:p.Val1558Argfs frameshift NM_001407921.1:c.4670_4671insAA NP_001394850.1:p.Val1558Argfs frameshift NM_001407922.1:c.4670_4671insAA NP_001394851.1:p.Val1558Argfs frameshift NM_001407923.1:c.4670_4671insAA NP_001394852.1:p.Val1558Argfs frameshift NM_001407924.1:c.4670_4671insAA NP_001394853.1:p.Val1558Argfs frameshift NM_001407925.1:c.4670_4671insAA NP_001394854.1:p.Val1558Argfs frameshift NM_001407926.1:c.4670_4671insAA NP_001394855.1:p.Val1558Argfs frameshift NM_001407927.1:c.4667_4668insAA NP_001394856.1:p.Val1557Argfs frameshift NM_001407928.1:c.4667_4668insAA NP_001394857.1:p.Val1557Argfs frameshift NM_001407929.1:c.4667_4668insAA NP_001394858.1:p.Val1557Argfs frameshift NM_001407930.1:c.4667_4668insAA NP_001394859.1:p.Val1557Argfs frameshift NM_001407931.1:c.4667_4668insAA NP_001394860.1:p.Val1557Argfs frameshift NM_001407932.1:c.4667_4668insAA NP_001394861.1:p.Val1557Argfs frameshift NM_001407933.1:c.4667_4668insAA NP_001394862.1:p.Val1557Argfs frameshift NM_001407934.1:c.4664_4665insAA NP_001394863.1:p.Val1556Argfs frameshift NM_001407935.1:c.4664_4665insAA NP_001394864.1:p.Val1556Argfs frameshift NM_001407936.1:c.4664_4665insAA NP_001394865.1:p.Val1556Argfs frameshift NM_001407937.1:c.4811_4812insAA NP_001394866.1:p.Val1605Argfs frameshift NM_001407938.1:c.4811_4812insAA NP_001394867.1:p.Val1605Argfs frameshift NM_001407939.1:c.4808_4809insAA NP_001394868.1:p.Val1604Argfs frameshift NM_001407940.1:c.4808_4809insAA NP_001394869.1:p.Val1604Argfs frameshift NM_001407941.1:c.4805_4806insAA NP_001394870.1:p.Val1603Argfs frameshift NM_001407942.1:c.4793_4794insAA NP_001394871.1:p.Val1599Argfs frameshift NM_001407943.1:c.4790_4791insAA NP_001394872.1:p.Val1598Argfs frameshift NM_001407944.1:c.4790_4791insAA NP_001394873.1:p.Val1598Argfs frameshift NM_001407945.1:c.4790_4791insAA NP_001394874.1:p.Val1598Argfs frameshift NM_001407946.1:c.4601_4602insAA NP_001394875.1:p.Val1535Argfs frameshift NM_001407947.1:c.4601_4602insAA NP_001394876.1:p.Val1535Argfs frameshift NM_001407948.1:c.4601_4602insAA NP_001394877.1:p.Val1535Argfs frameshift NM_001407949.1:c.4601_4602insAA NP_001394878.1:p.Val1535Argfs frameshift NM_001407950.1:c.4598_4599insAA NP_001394879.1:p.Val1534Argfs frameshift NM_001407951.1:c.4598_4599insAA NP_001394880.1:p.Val1534Argfs frameshift NM_001407952.1:c.4598_4599insAA NP_001394881.1:p.Val1534Argfs frameshift NM_001407953.1:c.4598_4599insAA NP_001394882.1:p.Val1534Argfs frameshift NM_001407954.1:c.4598_4599insAA NP_001394883.1:p.Val1534Argfs frameshift NM_001407955.1:c.4598_4599insAA NP_001394884.1:p.Val1534Argfs frameshift NM_001407956.1:c.4595_4596insAA NP_001394885.1:p.Val1533Argfs frameshift NM_001407957.1:c.4595_4596insAA NP_001394886.1:p.Val1533Argfs frameshift NM_001407958.1:c.4595_4596insAA NP_001394887.1:p.Val1533Argfs frameshift NM_001407959.1:c.4553_4554insAA NP_001394888.1:p.Val1519Argfs frameshift NM_001407960.1:c.4550_4551insAA NP_001394889.1:p.Val1518Argfs frameshift NM_001407962.1:c.4550_4551insAA NP_001394891.1:p.Val1518Argfs frameshift NM_001407963.1:c.4547_4548insAA NP_001394892.1:p.Val1517Argfs frameshift NM_001407964.1:c.4472_4473insAA NP_001394893.1:p.Val1492Argfs frameshift NM_001407965.1:c.4427_4428insAA NP_001394894.1:p.Val1477Argfs frameshift NM_001407966.1:c.4046_4047insAA NP_001394895.1:p.Val1350Argfs frameshift NM_001407967.1:c.4043_4044insAA NP_001394896.1:p.Val1349Argfs frameshift NM_001407968.1:c.2330_2331insAA NP_001394897.1:p.Val778Argfs frameshift NM_001407969.1:c.2327_2328insAA NP_001394898.1:p.Val777Argfs frameshift NM_001407970.1:c.1691_1692insAA NP_001394899.1:p.Val565Argfs frameshift NM_001407971.1:c.1691_1692insAA NP_001394900.1:p.Val565Argfs frameshift NM_001407972.1:c.1688_1689insAA NP_001394901.1:p.Val564Argfs frameshift NM_001407973.1:c.1625_1626insAA NP_001394902.1:p.Val543Argfs frameshift NM_001407974.1:c.1625_1626insAA NP_001394903.1:p.Val543Argfs frameshift NM_001407975.1:c.1625_1626insAA NP_001394904.1:p.Val543Argfs frameshift NM_001407976.1:c.1625_1626insAA NP_001394905.1:p.Val543Argfs frameshift NM_001407977.1:c.1625_1626insAA NP_001394906.1:p.Val543Argfs frameshift NM_001407978.1:c.1625_1626insAA NP_001394907.1:p.Val543Argfs frameshift NM_001407979.1:c.1622_1623insAA NP_001394908.1:p.Val542Argfs frameshift NM_001407980.1:c.1622_1623insAA NP_001394909.1:p.Val542Argfs frameshift NM_001407981.1:c.1622_1623insAA NP_001394910.1:p.Val542Argfs frameshift NM_001407982.1:c.1622_1623insAA NP_001394911.1:p.Val542Argfs frameshift NM_001407983.1:c.1622_1623insAA NP_001394912.1:p.Val542Argfs frameshift NM_001407984.1:c.1622_1623insAA NP_001394913.1:p.Val542Argfs frameshift NM_001407985.1:c.1622_1623insAA NP_001394914.1:p.Val542Argfs frameshift NM_001407986.1:c.1622_1623insAA NP_001394915.1:p.Val542Argfs frameshift NM_001407990.1:c.1622_1623insAA NP_001394919.1:p.Val542Argfs frameshift NM_001407991.1:c.1622_1623insAA NP_001394920.1:p.Val542Argfs frameshift NM_001407992.1:c.1622_1623insAA NP_001394921.1:p.Val542Argfs frameshift NM_001407993.1:c.1622_1623insAA NP_001394922.1:p.Val542Argfs frameshift NM_001408392.1:c.1619_1620insAA NP_001395321.1:p.Val541Argfs frameshift NM_001408396.1:c.1619_1620insAA NP_001395325.1:p.Val541Argfs frameshift NM_001408397.1:c.1619_1620insAA NP_001395326.1:p.Val541Argfs frameshift NM_001408398.1:c.1619_1620insAA NP_001395327.1:p.Val541Argfs frameshift NM_001408399.1:c.1619_1620insAA NP_001395328.1:p.Val541Argfs frameshift NM_001408400.1:c.1619_1620insAA NP_001395329.1:p.Val541Argfs frameshift NM_001408401.1:c.1619_1620insAA NP_001395330.1:p.Val541Argfs frameshift NM_001408402.1:c.1619_1620insAA NP_001395331.1:p.Val541Argfs frameshift NM_001408403.1:c.1619_1620insAA NP_001395332.1:p.Val541Argfs frameshift NM_001408404.1:c.1619_1620insAA NP_001395333.1:p.Val541Argfs frameshift NM_001408406.1:c.1616_1617insAA NP_001395335.1:p.Val540Argfs frameshift NM_001408407.1:c.1616_1617insAA NP_001395336.1:p.Val540Argfs frameshift NM_001408408.1:c.1616_1617insAA NP_001395337.1:p.Val540Argfs frameshift NM_001408409.1:c.1613_1614insAA NP_001395338.1:p.Val539Argfs frameshift NM_001408410.1:c.1550_1551insAA NP_001395339.1:p.Val518Argfs frameshift NM_001408411.1:c.1547_1548insAA NP_001395340.1:p.Val517Argfs frameshift NM_001408412.1:c.1544_1545insAA NP_001395341.1:p.Val516Argfs frameshift NM_001408413.1:c.1544_1545insAA NP_001395342.1:p.Val516Argfs frameshift NM_001408414.1:c.1544_1545insAA NP_001395343.1:p.Val516Argfs frameshift NM_001408415.1:c.1544_1545insAA NP_001395344.1:p.Val516Argfs frameshift NM_001408416.1:c.1544_1545insAA NP_001395345.1:p.Val516Argfs frameshift NM_001408418.1:c.1508_1509insAA NP_001395347.1:p.Val504Argfs frameshift NM_001408419.1:c.1508_1509insAA NP_001395348.1:p.Val504Argfs frameshift NM_001408420.1:c.1508_1509insAA NP_001395349.1:p.Val504Argfs frameshift NM_001408421.1:c.1505_1506insAA NP_001395350.1:p.Val503Argfs frameshift NM_001408422.1:c.1505_1506insAA NP_001395351.1:p.Val503Argfs frameshift NM_001408423.1:c.1505_1506insAA NP_001395352.1:p.Val503Argfs frameshift NM_001408424.1:c.1505_1506insAA NP_001395353.1:p.Val503Argfs frameshift NM_001408425.1:c.1502_1503insAA NP_001395354.1:p.Val502Argfs frameshift NM_001408426.1:c.1502_1503insAA NP_001395355.1:p.Val502Argfs frameshift NM_001408427.1:c.1502_1503insAA NP_001395356.1:p.Val502Argfs frameshift NM_001408428.1:c.1502_1503insAA NP_001395357.1:p.Val502Argfs frameshift NM_001408429.1:c.1502_1503insAA NP_001395358.1:p.Val502Argfs frameshift NM_001408430.1:c.1502_1503insAA NP_001395359.1:p.Val502Argfs frameshift NM_001408431.1:c.1502_1503insAA NP_001395360.1:p.Val502Argfs frameshift NM_001408432.1:c.1499_1500insAA NP_001395361.1:p.Val501Argfs frameshift NM_001408433.1:c.1499_1500insAA NP_001395362.1:p.Val501Argfs frameshift NM_001408434.1:c.1499_1500insAA NP_001395363.1:p.Val501Argfs frameshift NM_001408435.1:c.1499_1500insAA NP_001395364.1:p.Val501Argfs frameshift NM_001408436.1:c.1499_1500insAA NP_001395365.1:p.Val501Argfs frameshift NM_001408437.1:c.1499_1500insAA NP_001395366.1:p.Val501Argfs frameshift NM_001408438.1:c.1499_1500insAA NP_001395367.1:p.Val501Argfs frameshift NM_001408439.1:c.1499_1500insAA NP_001395368.1:p.Val501Argfs frameshift NM_001408440.1:c.1499_1500insAA NP_001395369.1:p.Val501Argfs frameshift NM_001408441.1:c.1499_1500insAA NP_001395370.1:p.Val501Argfs frameshift NM_001408442.1:c.1499_1500insAA NP_001395371.1:p.Val501Argfs frameshift NM_001408443.1:c.1499_1500insAA NP_001395372.1:p.Val501Argfs frameshift NM_001408444.1:c.1499_1500insAA NP_001395373.1:p.Val501Argfs frameshift NM_001408445.1:c.1496_1497insAA NP_001395374.1:p.Val500Argfs frameshift NM_001408446.1:c.1496_1497insAA NP_001395375.1:p.Val500Argfs frameshift NM_001408447.1:c.1496_1497insAA NP_001395376.1:p.Val500Argfs frameshift NM_001408448.1:c.1496_1497insAA NP_001395377.1:p.Val500Argfs frameshift NM_001408450.1:c.1496_1497insAA NP_001395379.1:p.Val500Argfs frameshift NM_001408451.1:c.1490_1491insAA NP_001395380.1:p.Val498Argfs frameshift NM_001408452.1:c.1484_1485insAA NP_001395381.1:p.Val496Argfs frameshift NM_001408453.1:c.1484_1485insAA NP_001395382.1:p.Val496Argfs frameshift NM_001408454.1:c.1484_1485insAA NP_001395383.1:p.Val496Argfs frameshift NM_001408455.1:c.1484_1485insAA NP_001395384.1:p.Val496Argfs frameshift NM_001408456.1:c.1484_1485insAA NP_001395385.1:p.Val496Argfs frameshift NM_001408457.1:c.1484_1485insAA NP_001395386.1:p.Val496Argfs frameshift NM_001408458.1:c.1481_1482insAA NP_001395387.1:p.Val495Argfs frameshift NM_001408459.1:c.1481_1482insAA NP_001395388.1:p.Val495Argfs frameshift NM_001408460.1:c.1481_1482insAA NP_001395389.1:p.Val495Argfs frameshift NM_001408461.1:c.1481_1482insAA NP_001395390.1:p.Val495Argfs frameshift NM_001408462.1:c.1481_1482insAA NP_001395391.1:p.Val495Argfs frameshift NM_001408463.1:c.1481_1482insAA NP_001395392.1:p.Val495Argfs frameshift NM_001408464.1:c.1481_1482insAA NP_001395393.1:p.Val495Argfs frameshift NM_001408465.1:c.1481_1482insAA NP_001395394.1:p.Val495Argfs frameshift NM_001408466.1:c.1481_1482insAA NP_001395395.1:p.Val495Argfs frameshift NM_001408467.1:c.1481_1482insAA NP_001395396.1:p.Val495Argfs frameshift NM_001408468.1:c.1478_1479insAA NP_001395397.1:p.Val494Argfs frameshift NM_001408469.1:c.1478_1479insAA NP_001395398.1:p.Val494Argfs frameshift NM_001408470.1:c.1478_1479insAA NP_001395399.1:p.Val494Argfs frameshift NM_001408472.1:c.1622_1623insAA NP_001395401.1:p.Val542Argfs frameshift NM_001408473.1:c.1619_1620insAA NP_001395402.1:p.Val541Argfs frameshift NM_001408474.1:c.1424_1425insAA NP_001395403.1:p.Val476Argfs frameshift NM_001408475.1:c.1421_1422insAA NP_001395404.1:p.Val475Argfs frameshift NM_001408476.1:c.1421_1422insAA NP_001395405.1:p.Val475Argfs frameshift NM_001408478.1:c.1415_1416insAA NP_001395407.1:p.Val473Argfs frameshift NM_001408479.1:c.1415_1416insAA NP_001395408.1:p.Val473Argfs frameshift NM_001408480.1:c.1415_1416insAA NP_001395409.1:p.Val473Argfs frameshift NM_001408481.1:c.1412_1413insAA NP_001395410.1:p.Val472Argfs frameshift NM_001408482.1:c.1412_1413insAA NP_001395411.1:p.Val472Argfs frameshift NM_001408483.1:c.1412_1413insAA NP_001395412.1:p.Val472Argfs frameshift NM_001408484.1:c.1412_1413insAA NP_001395413.1:p.Val472Argfs frameshift NM_001408485.1:c.1412_1413insAA NP_001395414.1:p.Val472Argfs frameshift NM_001408489.1:c.1412_1413insAA NP_001395418.1:p.Val472Argfs frameshift NM_001408490.1:c.1412_1413insAA NP_001395419.1:p.Val472Argfs frameshift NM_001408491.1:c.1412_1413insAA NP_001395420.1:p.Val472Argfs frameshift NM_001408492.1:c.1409_1410insAA NP_001395421.1:p.Val471Argfs frameshift NM_001408493.1:c.1409_1410insAA NP_001395422.1:p.Val471Argfs frameshift NM_001408494.1:c.1385_1386insAA NP_001395423.1:p.Val463Argfs frameshift NM_001408495.1:c.1379_1380insAA NP_001395424.1:p.Val461Argfs frameshift NM_001408496.1:c.1361_1362insAA NP_001395425.1:p.Val455Argfs frameshift NM_001408497.1:c.1361_1362insAA NP_001395426.1:p.Val455Argfs frameshift NM_001408498.1:c.1361_1362insAA NP_001395427.1:p.Val455Argfs frameshift NM_001408499.1:c.1361_1362insAA NP_001395428.1:p.Val455Argfs frameshift NM_001408500.1:c.1361_1362insAA NP_001395429.1:p.Val455Argfs frameshift NM_001408501.1:c.1361_1362insAA NP_001395430.1:p.Val455Argfs frameshift NM_001408502.1:c.1358_1359insAA NP_001395431.1:p.Val454Argfs frameshift NM_001408503.1:c.1358_1359insAA NP_001395432.1:p.Val454Argfs frameshift NM_001408504.1:c.1358_1359insAA NP_001395433.1:p.Val454Argfs frameshift NM_001408505.1:c.1355_1356insAA NP_001395434.1:p.Val453Argfs frameshift NM_001408506.1:c.1298_1299insAA NP_001395435.1:p.Val434Argfs frameshift NM_001408507.1:c.1295_1296insAA NP_001395436.1:p.Val433Argfs frameshift NM_001408508.1:c.1286_1287insAA NP_001395437.1:p.Val430Argfs frameshift NM_001408509.1:c.1283_1284insAA NP_001395438.1:p.Val429Argfs frameshift NM_001408510.1:c.1244_1245insAA NP_001395439.1:p.Val416Argfs frameshift NM_001408511.1:c.1241_1242insAA NP_001395440.1:p.Val415Argfs frameshift NM_001408512.1:c.1121_1122insAA NP_001395441.1:p.Val375Argfs frameshift NM_001408513.1:c.1094_1095insAA NP_001395442.1:p.Val366Argfs frameshift NM_007297.4:c.4793_4794insAA NP_009228.2:p.Val1599fs frameshift NM_007298.4:c.1622_1623insAA NP_009229.2:p.Val542Argfs frameshift NM_007299.4:c.1622_1623insAA NP_009230.2:p.Val542fs frameshift NM_007300.4:c.4997_4998insAA NP_009231.2:p.Val1667fs frameshift NM_007304.2:c.1622_1623insAA NP_009235.2:p.Val542Argfs frameshift NR_027676.2:n.5111_5112insAA non-coding transcript variant NC_000017.11:g.43070979_43070980insTT NC_000017.10:g.41222996_41222997insTT NG_005905.2:g.147004_147005insAA LRG_292:g.147004_147005insAA LRG_292t1:c.4934_4935insAA LRG_292p1:p.Val1646Argfs - Protein change
- V1599fs, V1646fs, V1667fs, V542fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43070979::TT
-
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 | ||
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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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13158 | 14988 |
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 (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496592.2 |
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
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587433.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
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 rs1135401879 ...
HelpRecord last updated Jul 15, 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.