ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5042del (p.Thr1681fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5042del (p.Thr1681fs)
Variation ID: 266518 Accession: VCV000266518.13
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43067640 (GRCh38) [ NCBI UCSC ] 17: 41219657 (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 20, 2024 Oct 18, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5042del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1681fs frameshift NM_001407571.1:c.4829delC NP_001394500.1:p.Thr1610Metfs frameshift NM_001407581.1:c.5108delC NP_001394510.1:p.Thr1703Metfs frameshift NM_001407582.1:c.5108delC NP_001394511.1:p.Thr1703Metfs frameshift NM_001407583.1:c.5105delC NP_001394512.1:p.Thr1702Metfs frameshift NM_001407585.1:c.5105delC NP_001394514.1:p.Thr1702Metfs frameshift NM_001407587.1:c.5105delC NP_001394516.1:p.Thr1702Metfs frameshift NM_001407590.1:c.5102delC NP_001394519.1:p.Thr1701Metfs frameshift NM_001407591.1:c.5102delC NP_001394520.1:p.Thr1701Metfs frameshift NM_001407593.1:c.5042delC NP_001394522.1:p.Thr1681Metfs frameshift NM_001407594.1:c.5042delC NP_001394523.1:p.Thr1681Metfs frameshift NM_001407596.1:c.5042delC NP_001394525.1:p.Thr1681Metfs frameshift NM_001407597.1:c.5042delC NP_001394526.1:p.Thr1681Metfs frameshift NM_001407598.1:c.5042delC NP_001394527.1:p.Thr1681Metfs frameshift NM_001407602.1:c.5042delC NP_001394531.1:p.Thr1681Metfs frameshift NM_001407603.1:c.5042delC NP_001394532.1:p.Thr1681Metfs frameshift NM_001407605.1:c.5042delC NP_001394534.1:p.Thr1681Metfs frameshift NM_001407610.1:c.5039delC NP_001394539.1:p.Thr1680Metfs frameshift NM_001407611.1:c.5039delC NP_001394540.1:p.Thr1680Metfs frameshift NM_001407612.1:c.5039delC NP_001394541.1:p.Thr1680Metfs frameshift NM_001407613.1:c.5039delC NP_001394542.1:p.Thr1680Metfs frameshift NM_001407614.1:c.5039delC NP_001394543.1:p.Thr1680Metfs frameshift NM_001407615.1:c.5039delC NP_001394544.1:p.Thr1680Metfs frameshift NM_001407616.1:c.5039delC NP_001394545.1:p.Thr1680Metfs frameshift NM_001407617.1:c.5039delC NP_001394546.1:p.Thr1680Metfs frameshift NM_001407618.1:c.5039delC NP_001394547.1:p.Thr1680Metfs frameshift NM_001407619.1:c.5039delC NP_001394548.1:p.Thr1680Metfs frameshift NM_001407620.1:c.5039delC NP_001394549.1:p.Thr1680Metfs frameshift NM_001407621.1:c.5039delC NP_001394550.1:p.Thr1680Metfs frameshift NM_001407622.1:c.5039delC NP_001394551.1:p.Thr1680Metfs frameshift NM_001407623.1:c.5039delC NP_001394552.1:p.Thr1680Metfs frameshift NM_001407624.1:c.5039delC NP_001394553.1:p.Thr1680Metfs frameshift NM_001407625.1:c.5039delC NP_001394554.1:p.Thr1680Metfs frameshift NM_001407626.1:c.5039delC NP_001394555.1:p.Thr1680Metfs frameshift NM_001407627.1:c.5036delC NP_001394556.1:p.Thr1679Metfs frameshift NM_001407628.1:c.5036delC NP_001394557.1:p.Thr1679Metfs frameshift NM_001407629.1:c.5036delC NP_001394558.1:p.Thr1679Metfs frameshift NM_001407630.1:c.5036delC NP_001394559.1:p.Thr1679Metfs frameshift NM_001407631.1:c.5036delC NP_001394560.1:p.Thr1679Metfs frameshift NM_001407632.1:c.5036delC NP_001394561.1:p.Thr1679Metfs frameshift NM_001407633.1:c.5036delC NP_001394562.1:p.Thr1679Metfs frameshift NM_001407634.1:c.5036delC NP_001394563.1:p.Thr1679Metfs frameshift NM_001407635.1:c.5036delC NP_001394564.1:p.Thr1679Metfs frameshift NM_001407636.1:c.5036delC NP_001394565.1:p.Thr1679Metfs frameshift NM_001407637.1:c.5036delC NP_001394566.1:p.Thr1679Metfs frameshift NM_001407638.1:c.5036delC NP_001394567.1:p.Thr1679Metfs frameshift NM_001407639.1:c.5036delC NP_001394568.1:p.Thr1679Metfs frameshift NM_001407640.1:c.5036delC NP_001394569.1:p.Thr1679Metfs frameshift NM_001407641.1:c.5036delC NP_001394570.1:p.Thr1679Metfs frameshift NM_001407642.1:c.5036delC NP_001394571.1:p.Thr1679Metfs frameshift NM_001407644.1:c.5033delC NP_001394573.1:p.Thr1678Metfs frameshift NM_001407645.1:c.5033delC NP_001394574.1:p.Thr1678Metfs frameshift NM_001407646.1:c.5030delC NP_001394575.1:p.Thr1677Metfs frameshift NM_001407647.1:c.5027delC NP_001394576.1:p.Thr1676Metfs frameshift NM_001407648.1:c.4985delC NP_001394577.1:p.Thr1662Metfs frameshift NM_001407649.1:c.4982delC NP_001394578.1:p.Thr1661Metfs frameshift NM_001407652.1:c.5042delC NP_001394581.1:p.Thr1681Metfs frameshift NM_001407653.1:c.4964delC NP_001394582.1:p.Thr1655Metfs frameshift NM_001407654.1:c.4964delC NP_001394583.1:p.Thr1655Metfs frameshift NM_001407655.1:c.4964delC NP_001394584.1:p.Thr1655Metfs frameshift NM_001407656.1:c.4961delC NP_001394585.1:p.Thr1654Metfs frameshift NM_001407657.1:c.4961delC NP_001394586.1:p.Thr1654Metfs frameshift NM_001407658.1:c.4961delC NP_001394587.1:p.Thr1654Metfs frameshift NM_001407659.1:c.4958delC NP_001394588.1:p.Thr1653Metfs frameshift NM_001407660.1:c.4958delC NP_001394589.1:p.Thr1653Metfs frameshift NM_001407661.1:c.4958delC NP_001394590.1:p.Thr1653Metfs frameshift NM_001407662.1:c.4958delC NP_001394591.1:p.Thr1653Metfs frameshift NM_001407663.1:c.4958delC NP_001394592.1:p.Thr1653Metfs frameshift NM_001407664.1:c.4919delC NP_001394593.1:p.Thr1640Metfs frameshift NM_001407665.1:c.4919delC NP_001394594.1:p.Thr1640Metfs frameshift NM_001407666.1:c.4919delC NP_001394595.1:p.Thr1640Metfs frameshift NM_001407667.1:c.4919delC NP_001394596.1:p.Thr1640Metfs frameshift NM_001407668.1:c.4919delC NP_001394597.1:p.Thr1640Metfs frameshift NM_001407669.1:c.4919delC NP_001394598.1:p.Thr1640Metfs frameshift NM_001407670.1:c.4916delC NP_001394599.1:p.Thr1639Metfs frameshift NM_001407671.1:c.4916delC NP_001394600.1:p.Thr1639Metfs frameshift NM_001407672.1:c.4916delC NP_001394601.1:p.Thr1639Metfs frameshift NM_001407673.1:c.4916delC NP_001394602.1:p.Thr1639Metfs frameshift NM_001407674.1:c.4916delC NP_001394603.1:p.Thr1639Metfs frameshift NM_001407675.1:c.4916delC NP_001394604.1:p.Thr1639Metfs frameshift NM_001407676.1:c.4916delC NP_001394605.1:p.Thr1639Metfs frameshift NM_001407677.1:c.4916delC NP_001394606.1:p.Thr1639Metfs frameshift NM_001407678.1:c.4916delC NP_001394607.1:p.Thr1639Metfs frameshift NM_001407679.1:c.4916delC NP_001394608.1:p.Thr1639Metfs frameshift NM_001407680.1:c.4916delC NP_001394609.1:p.Thr1639Metfs frameshift NM_001407681.1:c.4913delC NP_001394610.1:p.Thr1638Metfs frameshift NM_001407682.1:c.4913delC NP_001394611.1:p.Thr1638Metfs frameshift NM_001407683.1:c.4913delC NP_001394612.1:p.Thr1638Metfs frameshift NM_001407684.1:c.5042delC NP_001394613.1:p.Thr1681Metfs frameshift NM_001407685.1:c.4913delC NP_001394614.1:p.Thr1638Metfs frameshift NM_001407686.1:c.4913delC NP_001394615.1:p.Thr1638Metfs frameshift NM_001407687.1:c.4913delC NP_001394616.1:p.Thr1638Metfs frameshift NM_001407688.1:c.4913delC NP_001394617.1:p.Thr1638Metfs frameshift NM_001407689.1:c.4913delC NP_001394618.1:p.Thr1638Metfs frameshift NM_001407690.1:c.4910delC NP_001394619.1:p.Thr1637Metfs frameshift NM_001407691.1:c.4910delC NP_001394620.1:p.Thr1637Metfs frameshift NM_001407692.1:c.4901delC NP_001394621.1:p.Thr1634Metfs frameshift NM_001407694.1:c.4901delC NP_001394623.1:p.Thr1634Metfs frameshift NM_001407695.1:c.4901delC NP_001394624.1:p.Thr1634Metfs frameshift NM_001407696.1:c.4901delC NP_001394625.1:p.Thr1634Metfs frameshift NM_001407697.1:c.4901delC NP_001394626.1:p.Thr1634Metfs frameshift NM_001407698.1:c.4901delC NP_001394627.1:p.Thr1634Metfs frameshift NM_001407724.1:c.4901delC NP_001394653.1:p.Thr1634Metfs frameshift NM_001407725.1:c.4901delC NP_001394654.1:p.Thr1634Metfs frameshift NM_001407726.1:c.4901delC NP_001394655.1:p.Thr1634Metfs frameshift NM_001407727.1:c.4901delC NP_001394656.1:p.Thr1634Metfs frameshift NM_001407728.1:c.4901delC NP_001394657.1:p.Thr1634Metfs frameshift NM_001407729.1:c.4901delC NP_001394658.1:p.Thr1634Metfs frameshift NM_001407730.1:c.4901delC NP_001394659.1:p.Thr1634Metfs frameshift NM_001407731.1:c.4901delC NP_001394660.1:p.Thr1634Metfs frameshift NM_001407732.1:c.4898delC NP_001394661.1:p.Thr1633Metfs frameshift NM_001407733.1:c.4898delC NP_001394662.1:p.Thr1633Metfs frameshift NM_001407734.1:c.4898delC NP_001394663.1:p.Thr1633Metfs frameshift NM_001407735.1:c.4898delC NP_001394664.1:p.Thr1633Metfs frameshift NM_001407736.1:c.4898delC NP_001394665.1:p.Thr1633Metfs frameshift NM_001407737.1:c.4898delC NP_001394666.1:p.Thr1633Metfs frameshift NM_001407738.1:c.4898delC NP_001394667.1:p.Thr1633Metfs frameshift NM_001407739.1:c.4898delC NP_001394668.1:p.Thr1633Metfs frameshift NM_001407740.1:c.4898delC NP_001394669.1:p.Thr1633Metfs frameshift NM_001407741.1:c.4898delC NP_001394670.1:p.Thr1633Metfs frameshift NM_001407742.1:c.4898delC NP_001394671.1:p.Thr1633Metfs frameshift NM_001407743.1:c.4898delC NP_001394672.1:p.Thr1633Metfs frameshift NM_001407744.1:c.4898delC NP_001394673.1:p.Thr1633Metfs frameshift NM_001407745.1:c.4898delC NP_001394674.1:p.Thr1633Metfs frameshift NM_001407746.1:c.4898delC NP_001394675.1:p.Thr1633Metfs frameshift NM_001407747.1:c.4898delC NP_001394676.1:p.Thr1633Metfs frameshift NM_001407748.1:c.4898delC NP_001394677.1:p.Thr1633Metfs frameshift NM_001407749.1:c.4898delC NP_001394678.1:p.Thr1633Metfs frameshift NM_001407750.1:c.4898delC NP_001394679.1:p.Thr1633Metfs frameshift NM_001407751.1:c.4898delC NP_001394680.1:p.Thr1633Metfs frameshift NM_001407752.1:c.4898delC NP_001394681.1:p.Thr1633Metfs frameshift NM_001407838.1:c.4895delC NP_001394767.1:p.Thr1632Metfs frameshift NM_001407839.1:c.4895delC NP_001394768.1:p.Thr1632Metfs frameshift NM_001407841.1:c.4895delC NP_001394770.1:p.Thr1632Metfs frameshift NM_001407842.1:c.4895delC NP_001394771.1:p.Thr1632Metfs frameshift NM_001407843.1:c.4895delC NP_001394772.1:p.Thr1632Metfs frameshift NM_001407844.1:c.4895delC NP_001394773.1:p.Thr1632Metfs frameshift NM_001407845.1:c.4895delC NP_001394774.1:p.Thr1632Metfs frameshift NM_001407846.1:c.4895delC NP_001394775.1:p.Thr1632Metfs frameshift NM_001407847.1:c.4895delC NP_001394776.1:p.Thr1632Metfs frameshift NM_001407848.1:c.4895delC NP_001394777.1:p.Thr1632Metfs frameshift NM_001407849.1:c.4895delC NP_001394778.1:p.Thr1632Metfs frameshift NM_001407850.1:c.4895delC NP_001394779.1:p.Thr1632Metfs frameshift NM_001407851.1:c.4895delC NP_001394780.1:p.Thr1632Metfs frameshift NM_001407852.1:c.4895delC NP_001394781.1:p.Thr1632Metfs frameshift NM_001407853.1:c.4895delC NP_001394782.1:p.Thr1632Metfs frameshift NM_001407854.1:c.5042delC NP_001394783.1:p.Thr1681Metfs frameshift NM_001407858.1:c.5039delC NP_001394787.1:p.Thr1680Metfs frameshift NM_001407859.1:c.5039delC NP_001394788.1:p.Thr1680Metfs frameshift NM_001407860.1:c.5039delC NP_001394789.1:p.Thr1680Metfs frameshift NM_001407861.1:c.5036delC NP_001394790.1:p.Thr1679Metfs frameshift NM_001407862.1:c.4841delC NP_001394791.1:p.Thr1614Metfs frameshift NM_001407863.1:c.4916delC NP_001394792.1:p.Thr1639Metfs frameshift NM_001407874.1:c.4835delC NP_001394803.1:p.Thr1612Metfs frameshift NM_001407875.1:c.4835delC NP_001394804.1:p.Thr1612Metfs frameshift NM_001407879.1:c.4832delC NP_001394808.1:p.Thr1611Metfs frameshift NM_001407881.1:c.4832delC NP_001394810.1:p.Thr1611Metfs frameshift NM_001407882.1:c.4832delC NP_001394811.1:p.Thr1611Metfs frameshift NM_001407884.1:c.4832delC NP_001394813.1:p.Thr1611Metfs frameshift NM_001407885.1:c.4832delC NP_001394814.1:p.Thr1611Metfs frameshift NM_001407886.1:c.4832delC NP_001394815.1:p.Thr1611Metfs frameshift NM_001407887.1:c.4832delC NP_001394816.1:p.Thr1611Metfs frameshift NM_001407889.1:c.4832delC NP_001394818.1:p.Thr1611Metfs frameshift NM_001407894.1:c.4829delC NP_001394823.1:p.Thr1610Metfs frameshift NM_001407895.1:c.4829delC NP_001394824.1:p.Thr1610Metfs frameshift NM_001407896.1:c.4829delC NP_001394825.1:p.Thr1610Metfs frameshift NM_001407897.1:c.4829delC NP_001394826.1:p.Thr1610Metfs frameshift NM_001407898.1:c.4829delC NP_001394827.1:p.Thr1610Metfs frameshift NM_001407899.1:c.4829delC NP_001394828.1:p.Thr1610Metfs frameshift NM_001407900.1:c.4829delC NP_001394829.1:p.Thr1610Metfs frameshift NM_001407902.1:c.4829delC NP_001394831.1:p.Thr1610Metfs frameshift NM_001407904.1:c.4829delC NP_001394833.1:p.Thr1610Metfs frameshift NM_001407906.1:c.4829delC NP_001394835.1:p.Thr1610Metfs frameshift NM_001407907.1:c.4829delC NP_001394836.1:p.Thr1610Metfs frameshift NM_001407908.1:c.4829delC NP_001394837.1:p.Thr1610Metfs frameshift NM_001407909.1:c.4829delC NP_001394838.1:p.Thr1610Metfs frameshift NM_001407910.1:c.4829delC NP_001394839.1:p.Thr1610Metfs frameshift NM_001407915.1:c.4826delC NP_001394844.1:p.Thr1609Metfs frameshift NM_001407916.1:c.4826delC NP_001394845.1:p.Thr1609Metfs frameshift NM_001407917.1:c.4826delC NP_001394846.1:p.Thr1609Metfs frameshift NM_001407918.1:c.4826delC NP_001394847.1:p.Thr1609Metfs frameshift NM_001407919.1:c.4919delC NP_001394848.1:p.Thr1640Metfs frameshift NM_001407920.1:c.4778delC NP_001394849.1:p.Thr1593Metfs frameshift NM_001407921.1:c.4778delC NP_001394850.1:p.Thr1593Metfs frameshift NM_001407922.1:c.4778delC NP_001394851.1:p.Thr1593Metfs frameshift NM_001407923.1:c.4778delC NP_001394852.1:p.Thr1593Metfs frameshift NM_001407924.1:c.4778delC NP_001394853.1:p.Thr1593Metfs frameshift NM_001407925.1:c.4778delC NP_001394854.1:p.Thr1593Metfs frameshift NM_001407926.1:c.4778delC NP_001394855.1:p.Thr1593Metfs frameshift NM_001407927.1:c.4775delC NP_001394856.1:p.Thr1592Metfs frameshift NM_001407928.1:c.4775delC NP_001394857.1:p.Thr1592Metfs frameshift NM_001407929.1:c.4775delC NP_001394858.1:p.Thr1592Metfs frameshift NM_001407930.1:c.4775delC NP_001394859.1:p.Thr1592Metfs frameshift NM_001407931.1:c.4775delC NP_001394860.1:p.Thr1592Metfs frameshift NM_001407932.1:c.4775delC NP_001394861.1:p.Thr1592Metfs frameshift NM_001407933.1:c.4775delC NP_001394862.1:p.Thr1592Metfs frameshift NM_001407934.1:c.4772delC NP_001394863.1:p.Thr1591Metfs frameshift NM_001407935.1:c.4772delC NP_001394864.1:p.Thr1591Metfs frameshift NM_001407936.1:c.4772delC NP_001394865.1:p.Thr1591Metfs frameshift NM_001407937.1:c.4919delC NP_001394866.1:p.Thr1640Metfs frameshift NM_001407938.1:c.4919delC NP_001394867.1:p.Thr1640Metfs frameshift NM_001407939.1:c.4916delC NP_001394868.1:p.Thr1639Metfs frameshift NM_001407940.1:c.4916delC NP_001394869.1:p.Thr1639Metfs frameshift NM_001407941.1:c.4913delC NP_001394870.1:p.Thr1638Metfs frameshift NM_001407942.1:c.4901delC NP_001394871.1:p.Thr1634Metfs frameshift NM_001407943.1:c.4898delC NP_001394872.1:p.Thr1633Metfs frameshift NM_001407944.1:c.4898delC NP_001394873.1:p.Thr1633Metfs frameshift NM_001407945.1:c.4898delC NP_001394874.1:p.Thr1633Metfs frameshift NM_001407946.1:c.4709delC NP_001394875.1:p.Thr1570Metfs frameshift NM_001407947.1:c.4709delC NP_001394876.1:p.Thr1570Metfs frameshift NM_001407948.1:c.4709delC NP_001394877.1:p.Thr1570Metfs frameshift NM_001407949.1:c.4709delC NP_001394878.1:p.Thr1570Metfs frameshift NM_001407950.1:c.4706delC NP_001394879.1:p.Thr1569Metfs frameshift NM_001407951.1:c.4706delC NP_001394880.1:p.Thr1569Metfs frameshift NM_001407952.1:c.4706delC NP_001394881.1:p.Thr1569Metfs frameshift NM_001407953.1:c.4706delC NP_001394882.1:p.Thr1569Metfs frameshift NM_001407954.1:c.4706delC NP_001394883.1:p.Thr1569Metfs frameshift NM_001407955.1:c.4706delC NP_001394884.1:p.Thr1569Metfs frameshift NM_001407956.1:c.4703delC NP_001394885.1:p.Thr1568Metfs frameshift NM_001407957.1:c.4703delC NP_001394886.1:p.Thr1568Metfs frameshift NM_001407958.1:c.4703delC NP_001394887.1:p.Thr1568Metfs frameshift NM_001407959.1:c.4661delC NP_001394888.1:p.Thr1554Metfs frameshift NM_001407960.1:c.4658delC NP_001394889.1:p.Thr1553Metfs frameshift NM_001407962.1:c.4658delC NP_001394891.1:p.Thr1553Metfs frameshift NM_001407963.1:c.4655delC NP_001394892.1:p.Thr1552Metfs frameshift NM_001407964.1:c.4580delC NP_001394893.1:p.Thr1527Metfs frameshift NM_001407965.1:c.4535delC NP_001394894.1:p.Thr1512Metfs frameshift NM_001407966.1:c.4154delC NP_001394895.1:p.Thr1385Metfs frameshift NM_001407967.1:c.4151delC NP_001394896.1:p.Thr1384Metfs frameshift NM_001407968.1:c.2438delC NP_001394897.1:p.Thr813Metfs frameshift NM_001407969.1:c.2435delC NP_001394898.1:p.Thr812Metfs frameshift NM_001407970.1:c.1799delC NP_001394899.1:p.Thr600Metfs frameshift NM_001407971.1:c.1799delC NP_001394900.1:p.Thr600Metfs frameshift NM_001407972.1:c.1796delC NP_001394901.1:p.Thr599Metfs frameshift NM_001407973.1:c.1733delC NP_001394902.1:p.Thr578Metfs frameshift NM_001407974.1:c.1733delC NP_001394903.1:p.Thr578Metfs frameshift NM_001407975.1:c.1733delC NP_001394904.1:p.Thr578Metfs frameshift NM_001407976.1:c.1733delC NP_001394905.1:p.Thr578Metfs frameshift NM_001407977.1:c.1733delC NP_001394906.1:p.Thr578Metfs frameshift NM_001407978.1:c.1733delC NP_001394907.1:p.Thr578Metfs frameshift NM_001407979.1:c.1730delC NP_001394908.1:p.Thr577Metfs frameshift NM_001407980.1:c.1730delC NP_001394909.1:p.Thr577Metfs frameshift NM_001407981.1:c.1730delC NP_001394910.1:p.Thr577Metfs frameshift NM_001407982.1:c.1730delC NP_001394911.1:p.Thr577Metfs frameshift NM_001407983.1:c.1730delC NP_001394912.1:p.Thr577Metfs frameshift NM_001407984.1:c.1730delC NP_001394913.1:p.Thr577Metfs frameshift NM_001407985.1:c.1730delC NP_001394914.1:p.Thr577Metfs frameshift NM_001407986.1:c.1730delC NP_001394915.1:p.Thr577Metfs frameshift NM_001407990.1:c.1730delC NP_001394919.1:p.Thr577Metfs frameshift NM_001407991.1:c.1730delC NP_001394920.1:p.Thr577Metfs frameshift NM_001407992.1:c.1730delC NP_001394921.1:p.Thr577Metfs frameshift NM_001407993.1:c.1730delC NP_001394922.1:p.Thr577Metfs frameshift NM_001408392.1:c.1727delC NP_001395321.1:p.Thr576Metfs frameshift NM_001408396.1:c.1727delC NP_001395325.1:p.Thr576Metfs frameshift NM_001408397.1:c.1727delC NP_001395326.1:p.Thr576Metfs frameshift NM_001408398.1:c.1727delC NP_001395327.1:p.Thr576Metfs frameshift NM_001408399.1:c.1727delC NP_001395328.1:p.Thr576Metfs frameshift NM_001408400.1:c.1727delC NP_001395329.1:p.Thr576Metfs frameshift NM_001408401.1:c.1727delC NP_001395330.1:p.Thr576Metfs frameshift NM_001408402.1:c.1727delC NP_001395331.1:p.Thr576Metfs frameshift NM_001408403.1:c.1727delC NP_001395332.1:p.Thr576Metfs frameshift NM_001408404.1:c.1727delC NP_001395333.1:p.Thr576Metfs frameshift NM_001408406.1:c.1724delC NP_001395335.1:p.Thr575Metfs frameshift NM_001408407.1:c.1724delC NP_001395336.1:p.Thr575Metfs frameshift NM_001408408.1:c.1724delC NP_001395337.1:p.Thr575Metfs frameshift NM_001408409.1:c.1721delC NP_001395338.1:p.Thr574Metfs frameshift NM_001408410.1:c.1658delC NP_001395339.1:p.Thr553Metfs frameshift NM_001408411.1:c.1655delC NP_001395340.1:p.Thr552Metfs frameshift NM_001408412.1:c.1652delC NP_001395341.1:p.Thr551Metfs frameshift NM_001408413.1:c.1652delC NP_001395342.1:p.Thr551Metfs frameshift NM_001408414.1:c.1652delC NP_001395343.1:p.Thr551Metfs frameshift NM_001408415.1:c.1652delC NP_001395344.1:p.Thr551Metfs frameshift NM_001408416.1:c.1652delC NP_001395345.1:p.Thr551Metfs frameshift NM_001408418.1:c.1616delC NP_001395347.1:p.Thr539Metfs frameshift NM_001408419.1:c.1616delC NP_001395348.1:p.Thr539Metfs frameshift NM_001408420.1:c.1616delC NP_001395349.1:p.Thr539Metfs frameshift NM_001408421.1:c.1613delC NP_001395350.1:p.Thr538Metfs frameshift NM_001408422.1:c.1613delC NP_001395351.1:p.Thr538Metfs frameshift NM_001408423.1:c.1613delC NP_001395352.1:p.Thr538Metfs frameshift NM_001408424.1:c.1613delC NP_001395353.1:p.Thr538Metfs frameshift NM_001408425.1:c.1610delC NP_001395354.1:p.Thr537Metfs frameshift NM_001408426.1:c.1610delC NP_001395355.1:p.Thr537Metfs frameshift NM_001408427.1:c.1610delC NP_001395356.1:p.Thr537Metfs frameshift NM_001408428.1:c.1610delC NP_001395357.1:p.Thr537Metfs frameshift NM_001408429.1:c.1610delC NP_001395358.1:p.Thr537Metfs frameshift NM_001408430.1:c.1610delC NP_001395359.1:p.Thr537Metfs frameshift NM_001408431.1:c.1610delC NP_001395360.1:p.Thr537Metfs frameshift NM_001408432.1:c.1607delC NP_001395361.1:p.Thr536Metfs frameshift NM_001408433.1:c.1607delC NP_001395362.1:p.Thr536Metfs frameshift NM_001408434.1:c.1607delC NP_001395363.1:p.Thr536Metfs frameshift NM_001408435.1:c.1607delC NP_001395364.1:p.Thr536Metfs frameshift NM_001408436.1:c.1607delC NP_001395365.1:p.Thr536Metfs frameshift NM_001408437.1:c.1607delC NP_001395366.1:p.Thr536Metfs frameshift NM_001408438.1:c.1607delC NP_001395367.1:p.Thr536Metfs frameshift NM_001408439.1:c.1607delC NP_001395368.1:p.Thr536Metfs frameshift NM_001408440.1:c.1607delC NP_001395369.1:p.Thr536Metfs frameshift NM_001408441.1:c.1607delC NP_001395370.1:p.Thr536Metfs frameshift NM_001408442.1:c.1607delC NP_001395371.1:p.Thr536Metfs frameshift NM_001408443.1:c.1607delC NP_001395372.1:p.Thr536Metfs frameshift NM_001408444.1:c.1607delC NP_001395373.1:p.Thr536Metfs frameshift NM_001408445.1:c.1604delC NP_001395374.1:p.Thr535Metfs frameshift NM_001408446.1:c.1604delC NP_001395375.1:p.Thr535Metfs frameshift NM_001408447.1:c.1604delC NP_001395376.1:p.Thr535Metfs frameshift NM_001408448.1:c.1604delC NP_001395377.1:p.Thr535Metfs frameshift NM_001408450.1:c.1604delC NP_001395379.1:p.Thr535Metfs frameshift NM_001408451.1:c.1598delC NP_001395380.1:p.Thr533Metfs frameshift NM_001408452.1:c.1592delC NP_001395381.1:p.Thr531Metfs frameshift NM_001408453.1:c.1592delC NP_001395382.1:p.Thr531Metfs frameshift NM_001408454.1:c.1592delC NP_001395383.1:p.Thr531Metfs frameshift NM_001408455.1:c.1592delC NP_001395384.1:p.Thr531Metfs frameshift NM_001408456.1:c.1592delC NP_001395385.1:p.Thr531Metfs frameshift NM_001408457.1:c.1592delC NP_001395386.1:p.Thr531Metfs frameshift NM_001408458.1:c.1589delC NP_001395387.1:p.Thr530Metfs frameshift NM_001408459.1:c.1589delC NP_001395388.1:p.Thr530Metfs frameshift NM_001408460.1:c.1589delC NP_001395389.1:p.Thr530Metfs frameshift NM_001408461.1:c.1589delC NP_001395390.1:p.Thr530Metfs frameshift NM_001408462.1:c.1589delC NP_001395391.1:p.Thr530Metfs frameshift NM_001408463.1:c.1589delC NP_001395392.1:p.Thr530Metfs frameshift NM_001408464.1:c.1589delC NP_001395393.1:p.Thr530Metfs frameshift NM_001408465.1:c.1589delC NP_001395394.1:p.Thr530Metfs frameshift NM_001408466.1:c.1589delC NP_001395395.1:p.Thr530Metfs frameshift NM_001408467.1:c.1589delC NP_001395396.1:p.Thr530Metfs frameshift NM_001408468.1:c.1586delC NP_001395397.1:p.Thr529Metfs frameshift NM_001408469.1:c.1586delC NP_001395398.1:p.Thr529Metfs frameshift NM_001408470.1:c.1586delC NP_001395399.1:p.Thr529Metfs frameshift NM_001408472.1:c.1730delC NP_001395401.1:p.Thr577Metfs frameshift NM_001408473.1:c.1727delC NP_001395402.1:p.Thr576Metfs frameshift NM_001408474.1:c.1532delC NP_001395403.1:p.Thr511Metfs frameshift NM_001408475.1:c.1529delC NP_001395404.1:p.Thr510Metfs frameshift NM_001408476.1:c.1529delC NP_001395405.1:p.Thr510Metfs frameshift NM_001408478.1:c.1523delC NP_001395407.1:p.Thr508Metfs frameshift NM_001408479.1:c.1523delC NP_001395408.1:p.Thr508Metfs frameshift NM_001408480.1:c.1523delC NP_001395409.1:p.Thr508Metfs frameshift NM_001408481.1:c.1520delC NP_001395410.1:p.Thr507Metfs frameshift NM_001408482.1:c.1520delC NP_001395411.1:p.Thr507Metfs frameshift NM_001408483.1:c.1520delC NP_001395412.1:p.Thr507Metfs frameshift NM_001408484.1:c.1520delC NP_001395413.1:p.Thr507Metfs frameshift NM_001408485.1:c.1520delC NP_001395414.1:p.Thr507Metfs frameshift NM_001408489.1:c.1520delC NP_001395418.1:p.Thr507Metfs frameshift NM_001408490.1:c.1520delC NP_001395419.1:p.Thr507Metfs frameshift NM_001408491.1:c.1520delC NP_001395420.1:p.Thr507Metfs frameshift NM_001408492.1:c.1517delC NP_001395421.1:p.Thr506Metfs frameshift NM_001408493.1:c.1517delC NP_001395422.1:p.Thr506Metfs frameshift NM_001408494.1:c.1493delC NP_001395423.1:p.Thr498Metfs frameshift NM_001408495.1:c.1487delC NP_001395424.1:p.Thr496Metfs frameshift NM_001408496.1:c.1469delC NP_001395425.1:p.Thr490Metfs frameshift NM_001408497.1:c.1469delC NP_001395426.1:p.Thr490Metfs frameshift NM_001408498.1:c.1469delC NP_001395427.1:p.Thr490Metfs frameshift NM_001408499.1:c.1469delC NP_001395428.1:p.Thr490Metfs frameshift NM_001408500.1:c.1469delC NP_001395429.1:p.Thr490Metfs frameshift NM_001408501.1:c.1469delC NP_001395430.1:p.Thr490Metfs frameshift NM_001408502.1:c.1466delC NP_001395431.1:p.Thr489Metfs frameshift NM_001408503.1:c.1466delC NP_001395432.1:p.Thr489Metfs frameshift NM_001408504.1:c.1466delC NP_001395433.1:p.Thr489Metfs frameshift NM_001408505.1:c.1463delC NP_001395434.1:p.Thr488Metfs frameshift NM_001408506.1:c.1406delC NP_001395435.1:p.Thr469Metfs frameshift NM_001408507.1:c.1403delC NP_001395436.1:p.Thr468Metfs frameshift NM_001408508.1:c.1394delC NP_001395437.1:p.Thr465Metfs frameshift NM_001408509.1:c.1391delC NP_001395438.1:p.Thr464Metfs frameshift NM_001408510.1:c.1352delC NP_001395439.1:p.Thr451Metfs frameshift NM_001408511.1:c.1349delC NP_001395440.1:p.Thr450Metfs frameshift NM_001408512.1:c.1229delC NP_001395441.1:p.Thr410Metfs frameshift NM_001408513.1:c.1202delC NP_001395442.1:p.Thr401Metfs frameshift NM_007297.4:c.4901del NP_009228.2:p.Thr1634fs frameshift NM_007298.4:c.1730delC NP_009229.2:p.Thr577Metfs frameshift NM_007299.4:c.1730del NP_009230.2:p.Thr577fs frameshift NM_007300.4:c.5105del NP_009231.2:p.Thr1702fs frameshift NM_007304.2:c.1730delC NP_009235.2:p.Thr577Metfs frameshift NR_027676.2:n.5219del non-coding transcript variant NC_000017.11:g.43067640del NC_000017.10:g.41219657del NG_005905.2:g.150344del LRG_292:g.150344del LRG_292t1:c.5042del LRG_292p1:p.Thr1681Metfs - Protein change
- T1634fs, T1681fs, T577fs, T1702fs
- Other names
-
5161delC
- Canonical SPDI
- NC_000017.11:43067639:G:
-
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. |
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Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257328.6 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 19, 2018 | RCV000758839.3 | |
Pathogenic (2) |
criteria provided, single submitter
|
Jul 2, 2019 | RCV000496254.10 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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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: SCV000323828.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Jan 19, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887709.2
First in ClinVar: Mar 14, 2019 Last updated: Jan 01, 2022 |
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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: SCV000326117.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jul 02, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001388137.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 20, 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 reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 266518). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1681Metfs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
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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: SCV000587446.1 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
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
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 rs886040265 ...
HelpRecord last updated Oct 08, 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.