ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5237del (p.His1746fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5237del (p.His1746fs)
Variation ID: 548308 Accession: VCV000548308.2
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43057092 (GRCh38) [ NCBI UCSC ] 17: 41209109 (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 Jul 13, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5237del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His1746fs frameshift NM_001407571.1:c.5024delA NP_001394500.1:p.His1675Profs frameshift NM_001407581.1:c.5303delA NP_001394510.1:p.His1768Profs frameshift NM_001407582.1:c.5303delA NP_001394511.1:p.His1768Profs frameshift NM_001407583.1:c.5300delA NP_001394512.1:p.His1767Profs frameshift NM_001407585.1:c.5300delA NP_001394514.1:p.His1767Profs frameshift NM_001407587.1:c.5300delA NP_001394516.1:p.His1767Profs frameshift NM_001407590.1:c.5297delA NP_001394519.1:p.His1766Profs frameshift NM_001407591.1:c.5297delA NP_001394520.1:p.His1766Profs frameshift NM_001407593.1:c.5237delA NP_001394522.1:p.His1746Profs frameshift NM_001407594.1:c.5237delA NP_001394523.1:p.His1746Profs frameshift NM_001407596.1:c.5237delA NP_001394525.1:p.His1746Profs frameshift NM_001407597.1:c.5237delA NP_001394526.1:p.His1746Profs frameshift NM_001407598.1:c.5237delA NP_001394527.1:p.His1746Profs frameshift NM_001407602.1:c.5237delA NP_001394531.1:p.His1746Profs frameshift NM_001407603.1:c.5237delA NP_001394532.1:p.His1746Profs frameshift NM_001407605.1:c.5237delA NP_001394534.1:p.His1746Profs frameshift NM_001407610.1:c.5234delA NP_001394539.1:p.His1745Profs frameshift NM_001407611.1:c.5234delA NP_001394540.1:p.His1745Profs frameshift NM_001407612.1:c.5234delA NP_001394541.1:p.His1745Profs frameshift NM_001407613.1:c.5234delA NP_001394542.1:p.His1745Profs frameshift NM_001407614.1:c.5234delA NP_001394543.1:p.His1745Profs frameshift NM_001407615.1:c.5234delA NP_001394544.1:p.His1745Profs frameshift NM_001407616.1:c.5234delA NP_001394545.1:p.His1745Profs frameshift NM_001407617.1:c.5234delA NP_001394546.1:p.His1745Profs frameshift NM_001407618.1:c.5234delA NP_001394547.1:p.His1745Profs frameshift NM_001407619.1:c.5234delA NP_001394548.1:p.His1745Profs frameshift NM_001407620.1:c.5234delA NP_001394549.1:p.His1745Profs frameshift NM_001407621.1:c.5234delA NP_001394550.1:p.His1745Profs frameshift NM_001407622.1:c.5234delA NP_001394551.1:p.His1745Profs frameshift NM_001407623.1:c.5234delA NP_001394552.1:p.His1745Profs frameshift NM_001407624.1:c.5234delA NP_001394553.1:p.His1745Profs frameshift NM_001407625.1:c.5234delA NP_001394554.1:p.His1745Profs frameshift NM_001407626.1:c.5234delA NP_001394555.1:p.His1745Profs frameshift NM_001407627.1:c.5231delA NP_001394556.1:p.His1744Profs frameshift NM_001407628.1:c.5231delA NP_001394557.1:p.His1744Profs frameshift NM_001407629.1:c.5231delA NP_001394558.1:p.His1744Profs frameshift NM_001407630.1:c.5231delA NP_001394559.1:p.His1744Profs frameshift NM_001407631.1:c.5231delA NP_001394560.1:p.His1744Profs frameshift NM_001407632.1:c.5231delA NP_001394561.1:p.His1744Profs frameshift NM_001407633.1:c.5231delA NP_001394562.1:p.His1744Profs frameshift NM_001407634.1:c.5231delA NP_001394563.1:p.His1744Profs frameshift NM_001407635.1:c.5231delA NP_001394564.1:p.His1744Profs frameshift NM_001407636.1:c.5231delA NP_001394565.1:p.His1744Profs frameshift NM_001407637.1:c.5231delA NP_001394566.1:p.His1744Profs frameshift NM_001407638.1:c.5231delA NP_001394567.1:p.His1744Profs frameshift NM_001407639.1:c.5231delA NP_001394568.1:p.His1744Profs frameshift NM_001407640.1:c.5231delA NP_001394569.1:p.His1744Profs frameshift NM_001407641.1:c.5231delA NP_001394570.1:p.His1744Profs frameshift NM_001407642.1:c.5231delA NP_001394571.1:p.His1744Profs frameshift NM_001407644.1:c.5228delA NP_001394573.1:p.His1743Profs frameshift NM_001407645.1:c.5228delA NP_001394574.1:p.His1743Profs frameshift NM_001407646.1:c.5225delA NP_001394575.1:p.His1742Profs frameshift NM_001407647.1:c.5222delA NP_001394576.1:p.His1741Profs frameshift NM_001407648.1:c.5180delA NP_001394577.1:p.His1727Profs frameshift NM_001407649.1:c.5177delA NP_001394578.1:p.His1726Profs frameshift NM_001407652.1:c.5159delA NP_001394581.1:p.His1720Profs frameshift NM_001407653.1:c.5159delA NP_001394582.1:p.His1720Profs frameshift NM_001407654.1:c.5159delA NP_001394583.1:p.His1720Profs frameshift NM_001407655.1:c.5159delA NP_001394584.1:p.His1720Profs frameshift NM_001407656.1:c.5156delA NP_001394585.1:p.His1719Profs frameshift NM_001407657.1:c.5156delA NP_001394586.1:p.His1719Profs frameshift NM_001407658.1:c.5156delA NP_001394587.1:p.His1719Profs frameshift NM_001407659.1:c.5153delA NP_001394588.1:p.His1718Profs frameshift NM_001407660.1:c.5153delA NP_001394589.1:p.His1718Profs frameshift NM_001407661.1:c.5153delA NP_001394590.1:p.His1718Profs frameshift NM_001407662.1:c.5153delA NP_001394591.1:p.His1718Profs frameshift NM_001407663.1:c.5153delA NP_001394592.1:p.His1718Profs frameshift NM_001407664.1:c.5114delA NP_001394593.1:p.His1705Profs frameshift NM_001407665.1:c.5114delA NP_001394594.1:p.His1705Profs frameshift NM_001407666.1:c.5114delA NP_001394595.1:p.His1705Profs frameshift NM_001407667.1:c.5114delA NP_001394596.1:p.His1705Profs frameshift NM_001407668.1:c.5114delA NP_001394597.1:p.His1705Profs frameshift NM_001407669.1:c.5114delA NP_001394598.1:p.His1705Profs frameshift NM_001407670.1:c.5111delA NP_001394599.1:p.His1704Profs frameshift NM_001407671.1:c.5111delA NP_001394600.1:p.His1704Profs frameshift NM_001407672.1:c.5111delA NP_001394601.1:p.His1704Profs frameshift NM_001407673.1:c.5111delA NP_001394602.1:p.His1704Profs frameshift NM_001407674.1:c.5111delA NP_001394603.1:p.His1704Profs frameshift NM_001407675.1:c.5111delA NP_001394604.1:p.His1704Profs frameshift NM_001407676.1:c.5111delA NP_001394605.1:p.His1704Profs frameshift NM_001407677.1:c.5111delA NP_001394606.1:p.His1704Profs frameshift NM_001407678.1:c.5111delA NP_001394607.1:p.His1704Profs frameshift NM_001407679.1:c.5111delA NP_001394608.1:p.His1704Profs frameshift NM_001407680.1:c.5111delA NP_001394609.1:p.His1704Profs frameshift NM_001407681.1:c.5108delA NP_001394610.1:p.His1703Profs frameshift NM_001407682.1:c.5108delA NP_001394611.1:p.His1703Profs frameshift NM_001407683.1:c.5108delA NP_001394612.1:p.His1703Profs frameshift NM_001407684.1:c.5237delA NP_001394613.1:p.His1746Profs frameshift NM_001407685.1:c.5108delA NP_001394614.1:p.His1703Profs frameshift NM_001407686.1:c.5108delA NP_001394615.1:p.His1703Profs frameshift NM_001407687.1:c.5108delA NP_001394616.1:p.His1703Profs frameshift NM_001407688.1:c.5108delA NP_001394617.1:p.His1703Profs frameshift NM_001407689.1:c.5108delA NP_001394618.1:p.His1703Profs frameshift NM_001407690.1:c.5105delA NP_001394619.1:p.His1702Profs frameshift NM_001407691.1:c.5105delA NP_001394620.1:p.His1702Profs frameshift NM_001407692.1:c.5096delA NP_001394621.1:p.His1699Profs frameshift NM_001407694.1:c.5096delA NP_001394623.1:p.His1699Profs frameshift NM_001407695.1:c.5096delA NP_001394624.1:p.His1699Profs frameshift NM_001407696.1:c.5096delA NP_001394625.1:p.His1699Profs frameshift NM_001407697.1:c.5096delA NP_001394626.1:p.His1699Profs frameshift NM_001407698.1:c.5096delA NP_001394627.1:p.His1699Profs frameshift NM_001407724.1:c.5096delA NP_001394653.1:p.His1699Profs frameshift NM_001407725.1:c.5096delA NP_001394654.1:p.His1699Profs frameshift NM_001407726.1:c.5096delA NP_001394655.1:p.His1699Profs frameshift NM_001407727.1:c.5096delA NP_001394656.1:p.His1699Profs frameshift NM_001407728.1:c.5096delA NP_001394657.1:p.His1699Profs frameshift NM_001407729.1:c.5096delA NP_001394658.1:p.His1699Profs frameshift NM_001407730.1:c.5096delA NP_001394659.1:p.His1699Profs frameshift NM_001407731.1:c.5096delA NP_001394660.1:p.His1699Profs frameshift NM_001407732.1:c.5093delA NP_001394661.1:p.His1698Profs frameshift NM_001407733.1:c.5093delA NP_001394662.1:p.His1698Profs frameshift NM_001407734.1:c.5093delA NP_001394663.1:p.His1698Profs frameshift NM_001407735.1:c.5093delA NP_001394664.1:p.His1698Profs frameshift NM_001407736.1:c.5093delA NP_001394665.1:p.His1698Profs frameshift NM_001407737.1:c.5093delA NP_001394666.1:p.His1698Profs frameshift NM_001407738.1:c.5093delA NP_001394667.1:p.His1698Profs frameshift NM_001407739.1:c.5093delA NP_001394668.1:p.His1698Profs frameshift NM_001407740.1:c.5093delA NP_001394669.1:p.His1698Profs frameshift NM_001407741.1:c.5093delA NP_001394670.1:p.His1698Profs frameshift NM_001407742.1:c.5093delA NP_001394671.1:p.His1698Profs frameshift NM_001407743.1:c.5093delA NP_001394672.1:p.His1698Profs frameshift NM_001407744.1:c.5093delA NP_001394673.1:p.His1698Profs frameshift NM_001407745.1:c.5093delA NP_001394674.1:p.His1698Profs frameshift NM_001407746.1:c.5093delA NP_001394675.1:p.His1698Profs frameshift NM_001407747.1:c.5093delA NP_001394676.1:p.His1698Profs frameshift NM_001407748.1:c.5093delA NP_001394677.1:p.His1698Profs frameshift NM_001407749.1:c.5093delA NP_001394678.1:p.His1698Profs frameshift NM_001407750.1:c.5093delA NP_001394679.1:p.His1698Profs frameshift NM_001407751.1:c.5093delA NP_001394680.1:p.His1698Profs frameshift NM_001407752.1:c.5093delA NP_001394681.1:p.His1698Profs frameshift NM_001407838.1:c.5090delA NP_001394767.1:p.His1697Profs frameshift NM_001407839.1:c.5090delA NP_001394768.1:p.His1697Profs frameshift NM_001407841.1:c.5090delA NP_001394770.1:p.His1697Profs frameshift NM_001407842.1:c.5090delA NP_001394771.1:p.His1697Profs frameshift NM_001407843.1:c.5090delA NP_001394772.1:p.His1697Profs frameshift NM_001407844.1:c.5090delA NP_001394773.1:p.His1697Profs frameshift NM_001407845.1:c.5090delA NP_001394774.1:p.His1697Profs frameshift NM_001407846.1:c.5090delA NP_001394775.1:p.His1697Profs frameshift NM_001407847.1:c.5090delA NP_001394776.1:p.His1697Profs frameshift NM_001407848.1:c.5090delA NP_001394777.1:p.His1697Profs frameshift NM_001407849.1:c.5090delA NP_001394778.1:p.His1697Profs frameshift NM_001407850.1:c.5090delA NP_001394779.1:p.His1697Profs frameshift NM_001407851.1:c.5090delA NP_001394780.1:p.His1697Profs frameshift NM_001407852.1:c.5090delA NP_001394781.1:p.His1697Profs frameshift NM_001407853.1:c.5090delA NP_001394782.1:p.His1697Profs frameshift NM_001407854.1:c.5237delA NP_001394783.1:p.His1746Profs frameshift NM_001407858.1:c.5234delA NP_001394787.1:p.His1745Profs frameshift NM_001407859.1:c.5234delA NP_001394788.1:p.His1745Profs frameshift NM_001407860.1:c.5234delA NP_001394789.1:p.His1745Profs frameshift NM_001407861.1:c.5231delA NP_001394790.1:p.His1744Profs frameshift NM_001407862.1:c.5036delA NP_001394791.1:p.His1679Profs frameshift NM_001407863.1:c.5033delA NP_001394792.1:p.His1678Profs frameshift NM_001407874.1:c.5030delA NP_001394803.1:p.His1677Profs frameshift NM_001407875.1:c.5030delA NP_001394804.1:p.His1677Profs frameshift NM_001407879.1:c.5027delA NP_001394808.1:p.His1676Profs frameshift NM_001407881.1:c.5027delA NP_001394810.1:p.His1676Profs frameshift NM_001407882.1:c.5027delA NP_001394811.1:p.His1676Profs frameshift NM_001407884.1:c.5027delA NP_001394813.1:p.His1676Profs frameshift NM_001407885.1:c.5027delA NP_001394814.1:p.His1676Profs frameshift NM_001407886.1:c.5027delA NP_001394815.1:p.His1676Profs frameshift NM_001407887.1:c.5027delA NP_001394816.1:p.His1676Profs frameshift NM_001407889.1:c.5027delA NP_001394818.1:p.His1676Profs frameshift NM_001407894.1:c.5024delA NP_001394823.1:p.His1675Profs frameshift NM_001407895.1:c.5024delA NP_001394824.1:p.His1675Profs frameshift NM_001407896.1:c.5024delA NP_001394825.1:p.His1675Profs frameshift NM_001407897.1:c.5024delA NP_001394826.1:p.His1675Profs frameshift NM_001407898.1:c.5024delA NP_001394827.1:p.His1675Profs frameshift NM_001407899.1:c.5024delA NP_001394828.1:p.His1675Profs frameshift NM_001407900.1:c.5024delA NP_001394829.1:p.His1675Profs frameshift NM_001407902.1:c.5024delA NP_001394831.1:p.His1675Profs frameshift NM_001407904.1:c.5024delA NP_001394833.1:p.His1675Profs frameshift NM_001407906.1:c.5024delA NP_001394835.1:p.His1675Profs frameshift NM_001407907.1:c.5024delA NP_001394836.1:p.His1675Profs frameshift NM_001407908.1:c.5024delA NP_001394837.1:p.His1675Profs frameshift NM_001407909.1:c.5024delA NP_001394838.1:p.His1675Profs frameshift NM_001407910.1:c.5024delA NP_001394839.1:p.His1675Profs frameshift NM_001407915.1:c.5021delA NP_001394844.1:p.His1674Profs frameshift NM_001407916.1:c.5021delA NP_001394845.1:p.His1674Profs frameshift NM_001407917.1:c.5021delA NP_001394846.1:p.His1674Profs frameshift NM_001407918.1:c.5021delA NP_001394847.1:p.His1674Profs frameshift NM_001407919.1:c.5114delA NP_001394848.1:p.His1705Profs frameshift NM_001407920.1:c.4973delA NP_001394849.1:p.His1658Profs frameshift NM_001407921.1:c.4973delA NP_001394850.1:p.His1658Profs frameshift NM_001407922.1:c.4973delA NP_001394851.1:p.His1658Profs frameshift NM_001407923.1:c.4973delA NP_001394852.1:p.His1658Profs frameshift NM_001407924.1:c.4973delA NP_001394853.1:p.His1658Profs frameshift NM_001407925.1:c.4973delA NP_001394854.1:p.His1658Profs frameshift NM_001407926.1:c.4973delA NP_001394855.1:p.His1658Profs frameshift NM_001407927.1:c.4970delA NP_001394856.1:p.His1657Profs frameshift NM_001407928.1:c.4970delA NP_001394857.1:p.His1657Profs frameshift NM_001407929.1:c.4970delA NP_001394858.1:p.His1657Profs frameshift NM_001407930.1:c.4970delA NP_001394859.1:p.His1657Profs frameshift NM_001407931.1:c.4970delA NP_001394860.1:p.His1657Profs frameshift NM_001407932.1:c.4970delA NP_001394861.1:p.His1657Profs frameshift NM_001407933.1:c.4970delA NP_001394862.1:p.His1657Profs frameshift NM_001407934.1:c.4967delA NP_001394863.1:p.His1656Profs frameshift NM_001407935.1:c.4967delA NP_001394864.1:p.His1656Profs frameshift NM_001407936.1:c.4967delA NP_001394865.1:p.His1656Profs frameshift NM_001407937.1:c.5114delA NP_001394866.1:p.His1705Profs frameshift NM_001407938.1:c.5114delA NP_001394867.1:p.His1705Profs frameshift NM_001407939.1:c.5111delA NP_001394868.1:p.His1704Profs frameshift NM_001407940.1:c.5111delA NP_001394869.1:p.His1704Profs frameshift NM_001407941.1:c.5108delA NP_001394870.1:p.His1703Profs frameshift NM_001407942.1:c.5096delA NP_001394871.1:p.His1699Profs frameshift NM_001407943.1:c.5093delA NP_001394872.1:p.His1698Profs frameshift NM_001407944.1:c.5093delA NP_001394873.1:p.His1698Profs frameshift NM_001407945.1:c.5093delA NP_001394874.1:p.His1698Profs frameshift NM_001407946.1:c.4904delA NP_001394875.1:p.His1635Profs frameshift NM_001407947.1:c.4904delA NP_001394876.1:p.His1635Profs frameshift NM_001407948.1:c.4904delA NP_001394877.1:p.His1635Profs frameshift NM_001407949.1:c.4904delA NP_001394878.1:p.His1635Profs frameshift NM_001407950.1:c.4901delA NP_001394879.1:p.His1634Profs frameshift NM_001407951.1:c.4901delA NP_001394880.1:p.His1634Profs frameshift NM_001407952.1:c.4901delA NP_001394881.1:p.His1634Profs frameshift NM_001407953.1:c.4901delA NP_001394882.1:p.His1634Profs frameshift NM_001407954.1:c.4901delA NP_001394883.1:p.His1634Profs frameshift NM_001407955.1:c.4901delA NP_001394884.1:p.His1634Profs frameshift NM_001407956.1:c.4898delA NP_001394885.1:p.His1633Profs frameshift NM_001407957.1:c.4898delA NP_001394886.1:p.His1633Profs frameshift NM_001407958.1:c.4898delA NP_001394887.1:p.His1633Profs frameshift NM_001407959.1:c.4856delA NP_001394888.1:p.His1619Profs frameshift NM_001407960.1:c.4853delA NP_001394889.1:p.His1618Profs frameshift NM_001407962.1:c.4853delA NP_001394891.1:p.His1618Profs frameshift NM_001407963.1:c.4850delA NP_001394892.1:p.His1617Profs frameshift NM_001407964.1:c.4775delA NP_001394893.1:p.His1592Profs frameshift NM_001407965.1:c.4730delA NP_001394894.1:p.His1577Profs frameshift NM_001407966.1:c.4349delA NP_001394895.1:p.His1450Profs frameshift NM_001407967.1:c.4346delA NP_001394896.1:p.His1449Profs frameshift NM_001407968.1:c.2633delA NP_001394897.1:p.His878Profs frameshift NM_001407969.1:c.2630delA NP_001394898.1:p.His877Profs frameshift NM_001407970.1:c.1994delA NP_001394899.1:p.His665Profs frameshift NM_001407971.1:c.1994delA NP_001394900.1:p.His665Profs frameshift NM_001407972.1:c.1991delA NP_001394901.1:p.His664Profs frameshift NM_001407973.1:c.1928delA NP_001394902.1:p.His643Profs frameshift NM_001407974.1:c.1928delA NP_001394903.1:p.His643Profs frameshift NM_001407975.1:c.1928delA NP_001394904.1:p.His643Profs frameshift NM_001407976.1:c.1928delA NP_001394905.1:p.His643Profs frameshift NM_001407977.1:c.1928delA NP_001394906.1:p.His643Profs frameshift NM_001407978.1:c.1928delA NP_001394907.1:p.His643Profs frameshift NM_001407979.1:c.1925delA NP_001394908.1:p.His642Profs frameshift NM_001407980.1:c.1925delA NP_001394909.1:p.His642Profs frameshift NM_001407981.1:c.1925delA NP_001394910.1:p.His642Profs frameshift NM_001407982.1:c.1925delA NP_001394911.1:p.His642Profs frameshift NM_001407983.1:c.1925delA NP_001394912.1:p.His642Profs frameshift NM_001407984.1:c.1925delA NP_001394913.1:p.His642Profs frameshift NM_001407985.1:c.1925delA NP_001394914.1:p.His642Profs frameshift NM_001407986.1:c.1925delA NP_001394915.1:p.His642Profs frameshift NM_001407990.1:c.1925delA NP_001394919.1:p.His642Profs frameshift NM_001407991.1:c.1925delA NP_001394920.1:p.His642Profs frameshift NM_001407992.1:c.1925delA NP_001394921.1:p.His642Profs frameshift NM_001407993.1:c.1925delA NP_001394922.1:p.His642Profs frameshift NM_001408392.1:c.1922delA NP_001395321.1:p.His641Profs frameshift NM_001408396.1:c.1922delA NP_001395325.1:p.His641Profs frameshift NM_001408397.1:c.1922delA NP_001395326.1:p.His641Profs frameshift NM_001408398.1:c.1922delA NP_001395327.1:p.His641Profs frameshift NM_001408399.1:c.1922delA NP_001395328.1:p.His641Profs frameshift NM_001408400.1:c.1922delA NP_001395329.1:p.His641Profs frameshift NM_001408401.1:c.1922delA NP_001395330.1:p.His641Profs frameshift NM_001408402.1:c.1922delA NP_001395331.1:p.His641Profs frameshift NM_001408403.1:c.1922delA NP_001395332.1:p.His641Profs frameshift NM_001408404.1:c.1922delA NP_001395333.1:p.His641Profs frameshift NM_001408406.1:c.1919delA NP_001395335.1:p.His640Profs frameshift NM_001408407.1:c.1919delA NP_001395336.1:p.His640Profs frameshift NM_001408408.1:c.1919delA NP_001395337.1:p.His640Profs frameshift NM_001408409.1:c.1916delA NP_001395338.1:p.His639Profs frameshift NM_001408410.1:c.1853delA NP_001395339.1:p.His618Profs frameshift NM_001408411.1:c.1850delA NP_001395340.1:p.His617Profs frameshift NM_001408412.1:c.1847delA NP_001395341.1:p.His616Profs frameshift NM_001408413.1:c.1847delA NP_001395342.1:p.His616Profs frameshift NM_001408414.1:c.1847delA NP_001395343.1:p.His616Profs frameshift NM_001408415.1:c.1847delA NP_001395344.1:p.His616Profs frameshift NM_001408416.1:c.1847delA NP_001395345.1:p.His616Profs frameshift NM_001408418.1:c.1811delA NP_001395347.1:p.His604Profs frameshift NM_001408419.1:c.1811delA NP_001395348.1:p.His604Profs frameshift NM_001408420.1:c.1811delA NP_001395349.1:p.His604Profs frameshift NM_001408421.1:c.1808delA NP_001395350.1:p.His603Profs frameshift NM_001408422.1:c.1808delA NP_001395351.1:p.His603Profs frameshift NM_001408423.1:c.1808delA NP_001395352.1:p.His603Profs frameshift NM_001408424.1:c.1808delA NP_001395353.1:p.His603Profs frameshift NM_001408425.1:c.1805delA NP_001395354.1:p.His602Profs frameshift NM_001408426.1:c.1805delA NP_001395355.1:p.His602Profs frameshift NM_001408427.1:c.1805delA NP_001395356.1:p.His602Profs frameshift NM_001408428.1:c.1805delA NP_001395357.1:p.His602Profs frameshift NM_001408429.1:c.1805delA NP_001395358.1:p.His602Profs frameshift NM_001408430.1:c.1805delA NP_001395359.1:p.His602Profs frameshift NM_001408431.1:c.1805delA NP_001395360.1:p.His602Profs frameshift NM_001408432.1:c.1802delA NP_001395361.1:p.His601Profs frameshift NM_001408433.1:c.1802delA NP_001395362.1:p.His601Profs frameshift NM_001408434.1:c.1802delA NP_001395363.1:p.His601Profs frameshift NM_001408435.1:c.1802delA NP_001395364.1:p.His601Profs frameshift NM_001408436.1:c.1802delA NP_001395365.1:p.His601Profs frameshift NM_001408437.1:c.1802delA NP_001395366.1:p.His601Profs frameshift NM_001408438.1:c.1802delA NP_001395367.1:p.His601Profs frameshift NM_001408439.1:c.1802delA NP_001395368.1:p.His601Profs frameshift NM_001408440.1:c.1802delA NP_001395369.1:p.His601Profs frameshift NM_001408441.1:c.1802delA NP_001395370.1:p.His601Profs frameshift NM_001408442.1:c.1802delA NP_001395371.1:p.His601Profs frameshift NM_001408443.1:c.1802delA NP_001395372.1:p.His601Profs frameshift NM_001408444.1:c.1802delA NP_001395373.1:p.His601Profs frameshift NM_001408445.1:c.1799delA NP_001395374.1:p.His600Profs frameshift NM_001408446.1:c.1799delA NP_001395375.1:p.His600Profs frameshift NM_001408447.1:c.1799delA NP_001395376.1:p.His600Profs frameshift NM_001408448.1:c.1799delA NP_001395377.1:p.His600Profs frameshift NM_001408450.1:c.1799delA NP_001395379.1:p.His600Profs frameshift NM_001408451.1:c.1793delA NP_001395380.1:p.His598Profs frameshift NM_001408452.1:c.1787delA NP_001395381.1:p.His596Profs frameshift NM_001408453.1:c.1787delA NP_001395382.1:p.His596Profs frameshift NM_001408454.1:c.1787delA NP_001395383.1:p.His596Profs frameshift NM_001408455.1:c.1787delA NP_001395384.1:p.His596Profs frameshift NM_001408456.1:c.1787delA NP_001395385.1:p.His596Profs frameshift NM_001408457.1:c.1787delA NP_001395386.1:p.His596Profs frameshift NM_001408458.1:c.1784delA NP_001395387.1:p.His595Profs frameshift NM_001408459.1:c.1784delA NP_001395388.1:p.His595Profs frameshift NM_001408460.1:c.1784delA NP_001395389.1:p.His595Profs frameshift NM_001408461.1:c.1784delA NP_001395390.1:p.His595Profs frameshift NM_001408462.1:c.1784delA NP_001395391.1:p.His595Profs frameshift NM_001408463.1:c.1784delA NP_001395392.1:p.His595Profs frameshift NM_001408464.1:c.1784delA NP_001395393.1:p.His595Profs frameshift NM_001408465.1:c.1784delA NP_001395394.1:p.His595Profs frameshift NM_001408466.1:c.1784delA NP_001395395.1:p.His595Profs frameshift NM_001408467.1:c.1784delA NP_001395396.1:p.His595Profs frameshift NM_001408468.1:c.1781delA NP_001395397.1:p.His594Profs frameshift NM_001408469.1:c.1781delA NP_001395398.1:p.His594Profs frameshift NM_001408470.1:c.1781delA NP_001395399.1:p.His594Profs frameshift NM_001408472.1:c.1925delA NP_001395401.1:p.His642Profs frameshift NM_001408473.1:c.1922delA NP_001395402.1:p.His641Profs frameshift NM_001408474.1:c.1727delA NP_001395403.1:p.His576Profs frameshift NM_001408475.1:c.1724delA NP_001395404.1:p.His575Profs frameshift NM_001408476.1:c.1724delA NP_001395405.1:p.His575Profs frameshift NM_001408478.1:c.1718delA NP_001395407.1:p.His573Profs frameshift NM_001408479.1:c.1718delA NP_001395408.1:p.His573Profs frameshift NM_001408480.1:c.1718delA NP_001395409.1:p.His573Profs frameshift NM_001408481.1:c.1715delA NP_001395410.1:p.His572Profs frameshift NM_001408482.1:c.1715delA NP_001395411.1:p.His572Profs frameshift NM_001408483.1:c.1715delA NP_001395412.1:p.His572Profs frameshift NM_001408484.1:c.1715delA NP_001395413.1:p.His572Profs frameshift NM_001408485.1:c.1715delA NP_001395414.1:p.His572Profs frameshift NM_001408489.1:c.1715delA NP_001395418.1:p.His572Profs frameshift NM_001408490.1:c.1715delA NP_001395419.1:p.His572Profs frameshift NM_001408491.1:c.1715delA NP_001395420.1:p.His572Profs frameshift NM_001408492.1:c.1712delA NP_001395421.1:p.His571Profs frameshift NM_001408493.1:c.1712delA NP_001395422.1:p.His571Profs frameshift NM_001408494.1:c.1688delA NP_001395423.1:p.His563Profs frameshift NM_001408495.1:c.1682delA NP_001395424.1:p.His561Profs frameshift NM_001408496.1:c.1664delA NP_001395425.1:p.His555Profs frameshift NM_001408497.1:c.1664delA NP_001395426.1:p.His555Profs frameshift NM_001408498.1:c.1664delA NP_001395427.1:p.His555Profs frameshift NM_001408499.1:c.1664delA NP_001395428.1:p.His555Profs frameshift NM_001408500.1:c.1664delA NP_001395429.1:p.His555Profs frameshift NM_001408501.1:c.1664delA NP_001395430.1:p.His555Profs frameshift NM_001408502.1:c.1661delA NP_001395431.1:p.His554Profs frameshift NM_001408503.1:c.1661delA NP_001395432.1:p.His554Profs frameshift NM_001408504.1:c.1661delA NP_001395433.1:p.His554Profs frameshift NM_001408505.1:c.1658delA NP_001395434.1:p.His553Profs frameshift NM_001408506.1:c.1601delA NP_001395435.1:p.His534Profs frameshift NM_001408507.1:c.1598delA NP_001395436.1:p.His533Profs frameshift NM_001408508.1:c.1589delA NP_001395437.1:p.His530Profs frameshift NM_001408509.1:c.1586delA NP_001395438.1:p.His529Profs frameshift NM_001408510.1:c.1547delA NP_001395439.1:p.His516Profs frameshift NM_001408511.1:c.1544delA NP_001395440.1:p.His515Profs frameshift NM_001408512.1:c.1424delA NP_001395441.1:p.His475Profs frameshift NM_001408513.1:c.1397delA NP_001395442.1:p.His466Profs frameshift NM_001408514.1:c.1001delA NP_001395443.1:p.His334Profs frameshift NM_007297.4:c.5096del NP_009228.2:p.His1699fs frameshift NM_007298.4:c.1925delA NP_009229.2:p.His642Profs frameshift NM_007299.4:c.1925del NP_009230.2:p.His642fs frameshift NM_007300.4:c.5300del NP_009231.2:p.His1767fs frameshift NM_007304.2:c.1925delA NP_009235.2:p.His642Profs frameshift NR_027676.2:n.5414del non-coding transcript variant NC_000017.11:g.43057092del NC_000017.10:g.41209109del NG_005905.2:g.160892del LRG_292:g.160892del LRG_292t1:c.5237del LRG_292p1:p.His1746Profs - Protein change
- H1767fs, H642fs, H1699fs, H1746fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43057091:T:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13029 | 14833 |
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) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661340.2 |
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
(Dec 15, 2017)
|
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)
Study: ENIGMA
Accession: SCV000783610.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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 rs1555576907 ...
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.