ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4883_4890del (p.Met1628fs)
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.4883_4890del (p.Met1628fs)
Variation ID: 2583816 Accession: VCV002583816.2
- Type and length
-
Deletion, 8 bp
- Location
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Cytogenetic: 17q21.31 17: 43071024-43071031 (GRCh38) [ NCBI UCSC ] 17: 41223041-41223048 (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 21, 2023 Oct 28, 2023 May 9, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.4883_4890del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met1628fs frameshift NM_001407571.1:c.4670_4677del NP_001394500.1:p.Met1557fs frameshift NM_001407581.1:c.4949_4956del NP_001394510.1:p.Met1650fs frameshift NM_001407582.1:c.4949_4956del NP_001394511.1:p.Met1650fs frameshift NM_001407583.1:c.4946_4953del NP_001394512.1:p.Met1649fs frameshift NM_001407585.1:c.4946_4953del NP_001394514.1:p.Met1649fs frameshift NM_001407587.1:c.4946_4953del NP_001394516.1:p.Met1649fs frameshift NM_001407590.1:c.4943_4950del NP_001394519.1:p.Met1648fs frameshift NM_001407591.1:c.4943_4950del NP_001394520.1:p.Met1648fs frameshift NM_001407593.1:c.4883_4890del NP_001394522.1:p.Met1628fs frameshift NM_001407594.1:c.4883_4890del NP_001394523.1:p.Met1628fs frameshift NM_001407596.1:c.4883_4890del NP_001394525.1:p.Met1628fs frameshift NM_001407597.1:c.4883_4890del NP_001394526.1:p.Met1628fs frameshift NM_001407598.1:c.4883_4890del NP_001394527.1:p.Met1628fs frameshift NM_001407602.1:c.4883_4890del NP_001394531.1:p.Met1628fs frameshift NM_001407603.1:c.4883_4890del NP_001394532.1:p.Met1628fs frameshift NM_001407605.1:c.4883_4890del NP_001394534.1:p.Met1628fs frameshift NM_001407610.1:c.4880_4887del NP_001394539.1:p.Met1627fs frameshift NM_001407611.1:c.4880_4887del NP_001394540.1:p.Met1627fs frameshift NM_001407612.1:c.4880_4887del NP_001394541.1:p.Met1627fs frameshift NM_001407613.1:c.4880_4887del NP_001394542.1:p.Met1627fs frameshift NM_001407614.1:c.4880_4887del NP_001394543.1:p.Met1627fs frameshift NM_001407615.1:c.4880_4887del NP_001394544.1:p.Met1627fs frameshift NM_001407616.1:c.4880_4887del NP_001394545.1:p.Met1627fs frameshift NM_001407617.1:c.4880_4887del NP_001394546.1:p.Met1627fs frameshift NM_001407618.1:c.4880_4887del NP_001394547.1:p.Met1627fs frameshift NM_001407619.1:c.4880_4887del NP_001394548.1:p.Met1627fs frameshift NM_001407620.1:c.4880_4887del NP_001394549.1:p.Met1627fs frameshift NM_001407621.1:c.4880_4887del NP_001394550.1:p.Met1627fs frameshift NM_001407622.1:c.4880_4887del NP_001394551.1:p.Met1627fs frameshift NM_001407623.1:c.4880_4887del NP_001394552.1:p.Met1627fs frameshift NM_001407624.1:c.4880_4887del NP_001394553.1:p.Met1627fs frameshift NM_001407625.1:c.4880_4887del NP_001394554.1:p.Met1627fs frameshift NM_001407626.1:c.4880_4887del NP_001394555.1:p.Met1627fs frameshift NM_001407627.1:c.4877_4884del NP_001394556.1:p.Met1626fs frameshift NM_001407628.1:c.4877_4884del NP_001394557.1:p.Met1626fs frameshift NM_001407629.1:c.4877_4884del NP_001394558.1:p.Met1626fs frameshift NM_001407630.1:c.4877_4884del NP_001394559.1:p.Met1626fs frameshift NM_001407631.1:c.4877_4884del NP_001394560.1:p.Met1626fs frameshift NM_001407632.1:c.4877_4884del NP_001394561.1:p.Met1626fs frameshift NM_001407633.1:c.4877_4884del NP_001394562.1:p.Met1626fs frameshift NM_001407634.1:c.4877_4884del NP_001394563.1:p.Met1626fs frameshift NM_001407635.1:c.4877_4884del NP_001394564.1:p.Met1626fs frameshift NM_001407636.1:c.4877_4884del NP_001394565.1:p.Met1626fs frameshift NM_001407637.1:c.4877_4884del NP_001394566.1:p.Met1626fs frameshift NM_001407638.1:c.4877_4884del NP_001394567.1:p.Met1626fs frameshift NM_001407639.1:c.4877_4884del NP_001394568.1:p.Met1626fs frameshift NM_001407640.1:c.4877_4884del NP_001394569.1:p.Met1626fs frameshift NM_001407641.1:c.4877_4884del NP_001394570.1:p.Met1626fs frameshift NM_001407642.1:c.4877_4884del NP_001394571.1:p.Met1626fs frameshift NM_001407644.1:c.4874_4881del NP_001394573.1:p.Met1625fs frameshift NM_001407645.1:c.4874_4881del NP_001394574.1:p.Met1625fs frameshift NM_001407646.1:c.4871_4878del NP_001394575.1:p.Met1624fs frameshift NM_001407647.1:c.4868_4875del NP_001394576.1:p.Met1623fs frameshift NM_001407648.1:c.4826_4833del NP_001394577.1:p.Met1609fs frameshift NM_001407649.1:c.4823_4830del NP_001394578.1:p.Met1608fs frameshift NM_001407652.1:c.4883_4890del NP_001394581.1:p.Met1628fs frameshift NM_001407653.1:c.4805_4812del NP_001394582.1:p.Met1602fs frameshift NM_001407654.1:c.4805_4812del NP_001394583.1:p.Met1602fs frameshift NM_001407655.1:c.4805_4812del NP_001394584.1:p.Met1602fs frameshift NM_001407656.1:c.4802_4809del NP_001394585.1:p.Met1601fs frameshift NM_001407657.1:c.4802_4809del NP_001394586.1:p.Met1601fs frameshift NM_001407658.1:c.4802_4809del NP_001394587.1:p.Met1601fs frameshift NM_001407659.1:c.4799_4806del NP_001394588.1:p.Met1600fs frameshift NM_001407660.1:c.4799_4806del NP_001394589.1:p.Met1600fs frameshift NM_001407661.1:c.4799_4806del NP_001394590.1:p.Met1600fs frameshift NM_001407662.1:c.4799_4806del NP_001394591.1:p.Met1600fs frameshift NM_001407663.1:c.4799_4806del NP_001394592.1:p.Met1600fs frameshift NM_001407664.1:c.4760_4767del NP_001394593.1:p.Met1587fs frameshift NM_001407665.1:c.4760_4767del NP_001394594.1:p.Met1587fs frameshift NM_001407666.1:c.4760_4767del NP_001394595.1:p.Met1587fs frameshift NM_001407667.1:c.4760_4767del NP_001394596.1:p.Met1587fs frameshift NM_001407668.1:c.4760_4767del NP_001394597.1:p.Met1587fs frameshift NM_001407669.1:c.4760_4767del NP_001394598.1:p.Met1587fs frameshift NM_001407670.1:c.4757_4764del NP_001394599.1:p.Met1586fs frameshift NM_001407671.1:c.4757_4764del NP_001394600.1:p.Met1586fs frameshift NM_001407672.1:c.4757_4764del NP_001394601.1:p.Met1586fs frameshift NM_001407673.1:c.4757_4764del NP_001394602.1:p.Met1586fs frameshift NM_001407674.1:c.4757_4764del NP_001394603.1:p.Met1586fs frameshift NM_001407675.1:c.4757_4764del NP_001394604.1:p.Met1586fs frameshift NM_001407676.1:c.4757_4764del NP_001394605.1:p.Met1586fs frameshift NM_001407677.1:c.4757_4764del NP_001394606.1:p.Met1586fs frameshift NM_001407678.1:c.4757_4764del NP_001394607.1:p.Met1586fs frameshift NM_001407679.1:c.4757_4764del NP_001394608.1:p.Met1586fs frameshift NM_001407680.1:c.4757_4764del NP_001394609.1:p.Met1586fs frameshift NM_001407681.1:c.4754_4761del NP_001394610.1:p.Met1585fs frameshift NM_001407682.1:c.4754_4761del NP_001394611.1:p.Met1585fs frameshift NM_001407683.1:c.4754_4761del NP_001394612.1:p.Met1585fs frameshift NM_001407684.1:c.4883_4890del NP_001394613.1:p.Met1628fs frameshift NM_001407685.1:c.4754_4761del NP_001394614.1:p.Met1585fs frameshift NM_001407686.1:c.4754_4761del NP_001394615.1:p.Met1585fs frameshift NM_001407687.1:c.4754_4761del NP_001394616.1:p.Met1585fs frameshift NM_001407688.1:c.4754_4761del NP_001394617.1:p.Met1585fs frameshift NM_001407689.1:c.4754_4761del NP_001394618.1:p.Met1585fs frameshift NM_001407690.1:c.4751_4758del NP_001394619.1:p.Met1584fs frameshift NM_001407691.1:c.4751_4758del NP_001394620.1:p.Met1584fs frameshift NM_001407692.1:c.4742_4749del NP_001394621.1:p.Met1581fs frameshift NM_001407694.1:c.4742_4749del NP_001394623.1:p.Met1581fs frameshift NM_001407695.1:c.4742_4749del NP_001394624.1:p.Met1581fs frameshift NM_001407696.1:c.4742_4749del NP_001394625.1:p.Met1581fs frameshift NM_001407697.1:c.4742_4749del NP_001394626.1:p.Met1581fs frameshift NM_001407698.1:c.4742_4749del NP_001394627.1:p.Met1581fs frameshift NM_001407724.1:c.4742_4749del NP_001394653.1:p.Met1581fs frameshift NM_001407725.1:c.4742_4749del NP_001394654.1:p.Met1581fs frameshift NM_001407726.1:c.4742_4749del NP_001394655.1:p.Met1581fs frameshift NM_001407727.1:c.4742_4749del NP_001394656.1:p.Met1581fs frameshift NM_001407728.1:c.4742_4749del NP_001394657.1:p.Met1581fs frameshift NM_001407729.1:c.4742_4749del NP_001394658.1:p.Met1581fs frameshift NM_001407730.1:c.4742_4749del NP_001394659.1:p.Met1581fs frameshift NM_001407731.1:c.4742_4749del NP_001394660.1:p.Met1581fs frameshift NM_001407732.1:c.4739_4746del NP_001394661.1:p.Met1580fs frameshift NM_001407733.1:c.4739_4746del NP_001394662.1:p.Met1580fs frameshift NM_001407734.1:c.4739_4746del NP_001394663.1:p.Met1580fs frameshift NM_001407735.1:c.4739_4746del NP_001394664.1:p.Met1580fs frameshift NM_001407736.1:c.4739_4746del NP_001394665.1:p.Met1580fs frameshift NM_001407737.1:c.4739_4746del NP_001394666.1:p.Met1580fs frameshift NM_001407738.1:c.4739_4746del NP_001394667.1:p.Met1580fs frameshift NM_001407739.1:c.4739_4746del NP_001394668.1:p.Met1580fs frameshift NM_001407740.1:c.4739_4746del NP_001394669.1:p.Met1580fs frameshift NM_001407741.1:c.4739_4746del NP_001394670.1:p.Met1580fs frameshift NM_001407742.1:c.4739_4746del NP_001394671.1:p.Met1580fs frameshift NM_001407743.1:c.4739_4746del NP_001394672.1:p.Met1580fs frameshift NM_001407744.1:c.4739_4746del NP_001394673.1:p.Met1580fs frameshift NM_001407745.1:c.4739_4746del NP_001394674.1:p.Met1580fs frameshift NM_001407746.1:c.4739_4746del NP_001394675.1:p.Met1580fs frameshift NM_001407747.1:c.4739_4746del NP_001394676.1:p.Met1580fs frameshift NM_001407748.1:c.4739_4746del NP_001394677.1:p.Met1580fs frameshift NM_001407749.1:c.4739_4746del NP_001394678.1:p.Met1580fs frameshift NM_001407750.1:c.4739_4746del NP_001394679.1:p.Met1580fs frameshift NM_001407751.1:c.4739_4746del NP_001394680.1:p.Met1580fs frameshift NM_001407752.1:c.4739_4746del NP_001394681.1:p.Met1580fs frameshift NM_001407838.1:c.4736_4743del NP_001394767.1:p.Met1579fs frameshift NM_001407839.1:c.4736_4743del NP_001394768.1:p.Met1579fs frameshift NM_001407841.1:c.4736_4743del NP_001394770.1:p.Met1579fs frameshift NM_001407842.1:c.4736_4743del NP_001394771.1:p.Met1579fs frameshift NM_001407843.1:c.4736_4743del NP_001394772.1:p.Met1579fs frameshift NM_001407844.1:c.4736_4743del NP_001394773.1:p.Met1579fs frameshift NM_001407845.1:c.4736_4743del NP_001394774.1:p.Met1579fs frameshift NM_001407846.1:c.4736_4743del NP_001394775.1:p.Met1579fs frameshift NM_001407847.1:c.4736_4743del NP_001394776.1:p.Met1579fs frameshift NM_001407848.1:c.4736_4743del NP_001394777.1:p.Met1579fs frameshift NM_001407849.1:c.4736_4743del NP_001394778.1:p.Met1579fs frameshift NM_001407850.1:c.4736_4743del NP_001394779.1:p.Met1579fs frameshift NM_001407851.1:c.4736_4743del NP_001394780.1:p.Met1579fs frameshift NM_001407852.1:c.4736_4743del NP_001394781.1:p.Met1579fs frameshift NM_001407853.1:c.4736_4743del NP_001394782.1:p.Met1579fs frameshift NM_001407854.1:c.4883_4890del NP_001394783.1:p.Met1628fs frameshift NM_001407858.1:c.4880_4887del NP_001394787.1:p.Met1627fs frameshift NM_001407859.1:c.4880_4887del NP_001394788.1:p.Met1627fs frameshift NM_001407860.1:c.4880_4887del NP_001394789.1:p.Met1627fs frameshift NM_001407861.1:c.4877_4884del NP_001394790.1:p.Met1626fs frameshift NM_001407862.1:c.4682_4689del NP_001394791.1:p.Met1561fs frameshift NM_001407863.1:c.4757_4764del NP_001394792.1:p.Met1586fs frameshift NM_001407874.1:c.4676_4683del NP_001394803.1:p.Met1559fs frameshift NM_001407875.1:c.4676_4683del NP_001394804.1:p.Met1559fs frameshift NM_001407879.1:c.4673_4680del NP_001394808.1:p.Met1558fs frameshift NM_001407881.1:c.4673_4680del NP_001394810.1:p.Met1558fs frameshift NM_001407882.1:c.4673_4680del NP_001394811.1:p.Met1558fs frameshift NM_001407884.1:c.4673_4680del NP_001394813.1:p.Met1558fs frameshift NM_001407885.1:c.4673_4680del NP_001394814.1:p.Met1558fs frameshift NM_001407886.1:c.4673_4680del NP_001394815.1:p.Met1558fs frameshift NM_001407887.1:c.4673_4680del NP_001394816.1:p.Met1558fs frameshift NM_001407889.1:c.4673_4680del NP_001394818.1:p.Met1558fs frameshift NM_001407894.1:c.4670_4677del NP_001394823.1:p.Met1557fs frameshift NM_001407895.1:c.4670_4677del NP_001394824.1:p.Met1557fs frameshift NM_001407896.1:c.4670_4677del NP_001394825.1:p.Met1557fs frameshift NM_001407897.1:c.4670_4677del NP_001394826.1:p.Met1557fs frameshift NM_001407898.1:c.4670_4677del NP_001394827.1:p.Met1557fs frameshift NM_001407899.1:c.4670_4677del NP_001394828.1:p.Met1557fs frameshift NM_001407900.1:c.4670_4677del NP_001394829.1:p.Met1557fs frameshift NM_001407902.1:c.4670_4677del NP_001394831.1:p.Met1557fs frameshift NM_001407904.1:c.4670_4677del NP_001394833.1:p.Met1557fs frameshift NM_001407906.1:c.4670_4677del NP_001394835.1:p.Met1557fs frameshift NM_001407907.1:c.4670_4677del NP_001394836.1:p.Met1557fs frameshift NM_001407908.1:c.4670_4677del NP_001394837.1:p.Met1557fs frameshift NM_001407909.1:c.4670_4677del NP_001394838.1:p.Met1557fs frameshift NM_001407910.1:c.4670_4677del NP_001394839.1:p.Met1557fs frameshift NM_001407915.1:c.4667_4674del NP_001394844.1:p.Met1556fs frameshift NM_001407916.1:c.4667_4674del NP_001394845.1:p.Met1556fs frameshift NM_001407917.1:c.4667_4674del NP_001394846.1:p.Met1556fs frameshift NM_001407918.1:c.4667_4674del NP_001394847.1:p.Met1556fs frameshift NM_001407919.1:c.4760_4767del NP_001394848.1:p.Met1587fs frameshift NM_001407920.1:c.4619_4626del NP_001394849.1:p.Met1540fs frameshift NM_001407921.1:c.4619_4626del NP_001394850.1:p.Met1540fs frameshift NM_001407922.1:c.4619_4626del NP_001394851.1:p.Met1540fs frameshift NM_001407923.1:c.4619_4626del NP_001394852.1:p.Met1540fs frameshift NM_001407924.1:c.4619_4626del NP_001394853.1:p.Met1540fs frameshift NM_001407925.1:c.4619_4626del NP_001394854.1:p.Met1540fs frameshift NM_001407926.1:c.4619_4626del NP_001394855.1:p.Met1540fs frameshift NM_001407927.1:c.4616_4623del NP_001394856.1:p.Met1539fs frameshift NM_001407928.1:c.4616_4623del NP_001394857.1:p.Met1539fs frameshift NM_001407929.1:c.4616_4623del NP_001394858.1:p.Met1539fs frameshift NM_001407930.1:c.4616_4623del NP_001394859.1:p.Met1539fs frameshift NM_001407931.1:c.4616_4623del NP_001394860.1:p.Met1539fs frameshift NM_001407932.1:c.4616_4623del NP_001394861.1:p.Met1539fs frameshift NM_001407933.1:c.4616_4623del NP_001394862.1:p.Met1539fs frameshift NM_001407934.1:c.4613_4620del NP_001394863.1:p.Met1538fs frameshift NM_001407935.1:c.4613_4620del NP_001394864.1:p.Met1538fs frameshift NM_001407936.1:c.4613_4620del NP_001394865.1:p.Met1538fs frameshift NM_001407937.1:c.4760_4767del NP_001394866.1:p.Met1587fs frameshift NM_001407938.1:c.4760_4767del NP_001394867.1:p.Met1587fs frameshift NM_001407939.1:c.4757_4764del NP_001394868.1:p.Met1586fs frameshift NM_001407940.1:c.4757_4764del NP_001394869.1:p.Met1586fs frameshift NM_001407941.1:c.4754_4761del NP_001394870.1:p.Met1585fs frameshift NM_001407942.1:c.4742_4749del NP_001394871.1:p.Met1581fs frameshift NM_001407943.1:c.4739_4746del NP_001394872.1:p.Met1580fs frameshift NM_001407944.1:c.4739_4746del NP_001394873.1:p.Met1580fs frameshift NM_001407945.1:c.4739_4746del NP_001394874.1:p.Met1580fs frameshift NM_001407946.1:c.4550_4557del NP_001394875.1:p.Met1517fs frameshift NM_001407947.1:c.4550_4557del NP_001394876.1:p.Met1517fs frameshift NM_001407948.1:c.4550_4557del NP_001394877.1:p.Met1517fs frameshift NM_001407949.1:c.4550_4557del NP_001394878.1:p.Met1517fs frameshift NM_001407950.1:c.4547_4554del NP_001394879.1:p.Met1516fs frameshift NM_001407951.1:c.4547_4554del NP_001394880.1:p.Met1516fs frameshift NM_001407952.1:c.4547_4554del NP_001394881.1:p.Met1516fs frameshift NM_001407953.1:c.4547_4554del NP_001394882.1:p.Met1516fs frameshift NM_001407954.1:c.4547_4554del NP_001394883.1:p.Met1516fs frameshift NM_001407955.1:c.4547_4554del NP_001394884.1:p.Met1516fs frameshift NM_001407956.1:c.4544_4551del NP_001394885.1:p.Met1515fs frameshift NM_001407957.1:c.4544_4551del NP_001394886.1:p.Met1515fs frameshift NM_001407958.1:c.4544_4551del NP_001394887.1:p.Met1515fs frameshift NM_001407959.1:c.4502_4509del NP_001394888.1:p.Met1501fs frameshift NM_001407960.1:c.4499_4506del NP_001394889.1:p.Met1500fs frameshift NM_001407962.1:c.4499_4506del NP_001394891.1:p.Met1500fs frameshift NM_001407963.1:c.4496_4503del NP_001394892.1:p.Met1499fs frameshift NM_001407964.1:c.4421_4428del NP_001394893.1:p.Met1474fs frameshift NM_001407965.1:c.4376_4383del NP_001394894.1:p.Met1459fs frameshift NM_001407966.1:c.3995_4002del NP_001394895.1:p.Met1332fs frameshift NM_001407967.1:c.3992_3999del NP_001394896.1:p.Met1331fs frameshift NM_001407968.1:c.2279_2286del NP_001394897.1:p.Met760fs frameshift NM_001407969.1:c.2276_2283del NP_001394898.1:p.Met759fs frameshift NM_001407970.1:c.1640_1647del NP_001394899.1:p.Met547fs frameshift NM_001407971.1:c.1640_1647del NP_001394900.1:p.Met547fs frameshift NM_001407972.1:c.1637_1644del NP_001394901.1:p.Met546fs frameshift NM_001407973.1:c.1574_1581del NP_001394902.1:p.Met525fs frameshift NM_001407974.1:c.1574_1581del NP_001394903.1:p.Met525fs frameshift NM_001407975.1:c.1574_1581del NP_001394904.1:p.Met525fs frameshift NM_001407976.1:c.1574_1581del NP_001394905.1:p.Met525fs frameshift NM_001407977.1:c.1574_1581del NP_001394906.1:p.Met525fs frameshift NM_001407978.1:c.1574_1581del NP_001394907.1:p.Met525fs frameshift NM_001407979.1:c.1571_1578del NP_001394908.1:p.Met524fs frameshift NM_001407980.1:c.1571_1578del NP_001394909.1:p.Met524fs frameshift NM_001407981.1:c.1571_1578del NP_001394910.1:p.Met524fs frameshift NM_001407982.1:c.1571_1578del NP_001394911.1:p.Met524fs frameshift NM_001407983.1:c.1571_1578del NP_001394912.1:p.Met524fs frameshift NM_001407984.1:c.1571_1578del NP_001394913.1:p.Met524fs frameshift NM_001407985.1:c.1571_1578del NP_001394914.1:p.Met524fs frameshift NM_001407986.1:c.1571_1578del NP_001394915.1:p.Met524fs frameshift NM_001407990.1:c.1571_1578del NP_001394919.1:p.Met524fs frameshift NM_001407991.1:c.1571_1578del NP_001394920.1:p.Met524fs frameshift NM_001407992.1:c.1571_1578del NP_001394921.1:p.Met524fs frameshift NM_001407993.1:c.1571_1578del NP_001394922.1:p.Met524fs frameshift NM_001408392.1:c.1568_1575del NP_001395321.1:p.Met523fs frameshift NM_001408396.1:c.1568_1575del NP_001395325.1:p.Met523fs frameshift NM_001408397.1:c.1568_1575del NP_001395326.1:p.Met523fs frameshift NM_001408398.1:c.1568_1575del NP_001395327.1:p.Met523fs frameshift NM_001408399.1:c.1568_1575del NP_001395328.1:p.Met523fs frameshift NM_001408400.1:c.1568_1575del NP_001395329.1:p.Met523fs frameshift NM_001408401.1:c.1568_1575del NP_001395330.1:p.Met523fs frameshift NM_001408402.1:c.1568_1575del NP_001395331.1:p.Met523fs frameshift NM_001408403.1:c.1568_1575del NP_001395332.1:p.Met523fs frameshift NM_001408404.1:c.1568_1575del NP_001395333.1:p.Met523fs frameshift NM_001408406.1:c.1565_1572del NP_001395335.1:p.Met522fs frameshift NM_001408407.1:c.1565_1572del NP_001395336.1:p.Met522fs frameshift NM_001408408.1:c.1565_1572del NP_001395337.1:p.Met522fs frameshift NM_001408409.1:c.1562_1569del NP_001395338.1:p.Met521fs frameshift NM_001408410.1:c.1499_1506del NP_001395339.1:p.Met500fs frameshift NM_001408411.1:c.1496_1503del NP_001395340.1:p.Met499fs frameshift NM_001408412.1:c.1493_1500del NP_001395341.1:p.Met498fs frameshift NM_001408413.1:c.1493_1500del NP_001395342.1:p.Met498fs frameshift NM_001408414.1:c.1493_1500del NP_001395343.1:p.Met498fs frameshift NM_001408415.1:c.1493_1500del NP_001395344.1:p.Met498fs frameshift NM_001408416.1:c.1493_1500del NP_001395345.1:p.Met498fs frameshift NM_001408418.1:c.1457_1464del NP_001395347.1:p.Met486fs frameshift NM_001408419.1:c.1457_1464del NP_001395348.1:p.Met486fs frameshift NM_001408420.1:c.1457_1464del NP_001395349.1:p.Met486fs frameshift NM_001408421.1:c.1454_1461del NP_001395350.1:p.Met485fs frameshift NM_001408422.1:c.1454_1461del NP_001395351.1:p.Met485fs frameshift NM_001408423.1:c.1454_1461del NP_001395352.1:p.Met485fs frameshift NM_001408424.1:c.1454_1461del NP_001395353.1:p.Met485fs frameshift NM_001408425.1:c.1451_1458del NP_001395354.1:p.Met484fs frameshift NM_001408426.1:c.1451_1458del NP_001395355.1:p.Met484fs frameshift NM_001408427.1:c.1451_1458del NP_001395356.1:p.Met484fs frameshift NM_001408428.1:c.1451_1458del NP_001395357.1:p.Met484fs frameshift NM_001408429.1:c.1451_1458del NP_001395358.1:p.Met484fs frameshift NM_001408430.1:c.1451_1458del NP_001395359.1:p.Met484fs frameshift NM_001408431.1:c.1451_1458del NP_001395360.1:p.Met484fs frameshift NM_001408432.1:c.1448_1455del NP_001395361.1:p.Met483fs frameshift NM_001408433.1:c.1448_1455del NP_001395362.1:p.Met483fs frameshift NM_001408434.1:c.1448_1455del NP_001395363.1:p.Met483fs frameshift NM_001408435.1:c.1448_1455del NP_001395364.1:p.Met483fs frameshift NM_001408436.1:c.1448_1455del NP_001395365.1:p.Met483fs frameshift NM_001408437.1:c.1448_1455del NP_001395366.1:p.Met483fs frameshift NM_001408438.1:c.1448_1455del NP_001395367.1:p.Met483fs frameshift NM_001408439.1:c.1448_1455del NP_001395368.1:p.Met483fs frameshift NM_001408440.1:c.1448_1455del NP_001395369.1:p.Met483fs frameshift NM_001408441.1:c.1448_1455del NP_001395370.1:p.Met483fs frameshift NM_001408442.1:c.1448_1455del NP_001395371.1:p.Met483fs frameshift NM_001408443.1:c.1448_1455del NP_001395372.1:p.Met483fs frameshift NM_001408444.1:c.1448_1455del NP_001395373.1:p.Met483fs frameshift NM_001408445.1:c.1445_1452del NP_001395374.1:p.Met482fs frameshift NM_001408446.1:c.1445_1452del NP_001395375.1:p.Met482fs frameshift NM_001408447.1:c.1445_1452del NP_001395376.1:p.Met482fs frameshift NM_001408448.1:c.1445_1452del NP_001395377.1:p.Met482fs frameshift NM_001408450.1:c.1445_1452del NP_001395379.1:p.Met482fs frameshift NM_001408451.1:c.1439_1446del NP_001395380.1:p.Met480fs frameshift NM_001408452.1:c.1433_1440del NP_001395381.1:p.Met478fs frameshift NM_001408453.1:c.1433_1440del NP_001395382.1:p.Met478fs frameshift NM_001408454.1:c.1433_1440del NP_001395383.1:p.Met478fs frameshift NM_001408455.1:c.1433_1440del NP_001395384.1:p.Met478fs frameshift NM_001408456.1:c.1433_1440del NP_001395385.1:p.Met478fs frameshift NM_001408457.1:c.1433_1440del NP_001395386.1:p.Met478fs frameshift NM_001408458.1:c.1430_1437del NP_001395387.1:p.Met477fs frameshift NM_001408459.1:c.1430_1437del NP_001395388.1:p.Met477fs frameshift NM_001408460.1:c.1430_1437del NP_001395389.1:p.Met477fs frameshift NM_001408461.1:c.1430_1437del NP_001395390.1:p.Met477fs frameshift NM_001408462.1:c.1430_1437del NP_001395391.1:p.Met477fs frameshift NM_001408463.1:c.1430_1437del NP_001395392.1:p.Met477fs frameshift NM_001408464.1:c.1430_1437del NP_001395393.1:p.Met477fs frameshift NM_001408465.1:c.1430_1437del NP_001395394.1:p.Met477fs frameshift NM_001408466.1:c.1430_1437del NP_001395395.1:p.Met477fs frameshift NM_001408467.1:c.1430_1437del NP_001395396.1:p.Met477fs frameshift NM_001408468.1:c.1427_1434del NP_001395397.1:p.Met476fs frameshift NM_001408469.1:c.1427_1434del NP_001395398.1:p.Met476fs frameshift NM_001408470.1:c.1427_1434del NP_001395399.1:p.Met476fs frameshift NM_001408472.1:c.1571_1578del NP_001395401.1:p.Met524fs frameshift NM_001408473.1:c.1568_1575del NP_001395402.1:p.Met523fs frameshift NM_001408474.1:c.1373_1380del NP_001395403.1:p.Met458fs frameshift NM_001408475.1:c.1370_1377del NP_001395404.1:p.Met457fs frameshift NM_001408476.1:c.1370_1377del NP_001395405.1:p.Met457fs frameshift NM_001408478.1:c.1364_1371del NP_001395407.1:p.Met455fs frameshift NM_001408479.1:c.1364_1371del NP_001395408.1:p.Met455fs frameshift NM_001408480.1:c.1364_1371del NP_001395409.1:p.Met455fs frameshift NM_001408481.1:c.1361_1368del NP_001395410.1:p.Met454fs frameshift NM_001408482.1:c.1361_1368del NP_001395411.1:p.Met454fs frameshift NM_001408483.1:c.1361_1368del NP_001395412.1:p.Met454fs frameshift NM_001408484.1:c.1361_1368del NP_001395413.1:p.Met454fs frameshift NM_001408485.1:c.1361_1368del NP_001395414.1:p.Met454fs frameshift NM_001408489.1:c.1361_1368del NP_001395418.1:p.Met454fs frameshift NM_001408490.1:c.1361_1368del NP_001395419.1:p.Met454fs frameshift NM_001408491.1:c.1361_1368del NP_001395420.1:p.Met454fs frameshift NM_001408492.1:c.1358_1365del NP_001395421.1:p.Met453fs frameshift NM_001408493.1:c.1358_1365del NP_001395422.1:p.Met453fs frameshift NM_001408494.1:c.1334_1341del NP_001395423.1:p.Met445fs frameshift NM_001408495.1:c.1328_1335del NP_001395424.1:p.Met443fs frameshift NM_001408496.1:c.1310_1317del NP_001395425.1:p.Met437fs frameshift NM_001408497.1:c.1310_1317del NP_001395426.1:p.Met437fs frameshift NM_001408498.1:c.1310_1317del NP_001395427.1:p.Met437fs frameshift NM_001408499.1:c.1310_1317del NP_001395428.1:p.Met437fs frameshift NM_001408500.1:c.1310_1317del NP_001395429.1:p.Met437fs frameshift NM_001408501.1:c.1310_1317del NP_001395430.1:p.Met437fs frameshift NM_001408502.1:c.1307_1314del NP_001395431.1:p.Met436fs frameshift NM_001408503.1:c.1307_1314del NP_001395432.1:p.Met436fs frameshift NM_001408504.1:c.1307_1314del NP_001395433.1:p.Met436fs frameshift NM_001408505.1:c.1304_1311del NP_001395434.1:p.Met435fs frameshift NM_001408506.1:c.1247_1254del NP_001395435.1:p.Met416fs frameshift NM_001408507.1:c.1244_1251del NP_001395436.1:p.Met415fs frameshift NM_001408508.1:c.1235_1242del NP_001395437.1:p.Met412fs frameshift NM_001408509.1:c.1232_1239del NP_001395438.1:p.Met411fs frameshift NM_001408510.1:c.1193_1200del NP_001395439.1:p.Met398fs frameshift NM_001408511.1:c.1190_1197del NP_001395440.1:p.Met397fs frameshift NM_001408512.1:c.1070_1077del NP_001395441.1:p.Met357fs frameshift NM_001408513.1:c.1043_1050del NP_001395442.1:p.Met348fs frameshift NM_001408514.1:c.839-7080_839-7073del intron variant NM_007297.4:c.4742_4749del NP_009228.2:p.Met1581fs frameshift NM_007298.4:c.1571_1578del NP_009229.2:p.Met524fs frameshift NM_007299.4:c.1571_1578del NP_009230.2:p.Met524fs frameshift NM_007300.4:c.4946_4953del NP_009231.2:p.Met1649fs frameshift NM_007304.2:c.1569_1576delAATGGAAG NP_009235.2:p.Met524Lysfs frameshift NR_027676.2:n.5058_5065delAATGGAAG NC_000017.11:g.43071026_43071033del NC_000017.10:g.41223043_41223050del NG_005905.2:g.146953_146960del LRG_292:g.146953_146960del LRG_292t1:c.4881_4888del LRG_292p1:p.Met1628Lysfs - Protein change
- M1331fs, M1332fs, M1459fs, M1474fs, M1499fs, M1500fs, M1501fs, M1515fs, M1516fs, M1517fs, M1538fs, M1539fs, M1540fs, M1556fs, M1557fs, M1558fs, M1559fs, M1561fs, M1579fs, M1580fs, M1581fs, M1584fs, M1585fs, M1586fs, M1587fs, M1600fs, M1601fs, M1602fs, M1608fs, M1609fs, M1623fs, M1624fs, M1625fs, M1626fs, M1627fs, M1628fs, M1648fs, M1649fs, M1650fs, M348fs, M357fs, M397fs, M398fs, M411fs, M412fs, M415fs, M416fs, M435fs, M436fs, M437fs, M443fs, M445fs, M453fs, M454fs, M455fs, M457fs, M458fs, M476fs, M477fs, M478fs, M480fs, M482fs, M483fs, M484fs, M485fs, M486fs, M498fs, M499fs, M500fs, M521fs, M522fs, M523fs, M524fs, M525fs, M546fs, M547fs, M759fs, M760fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071023:TTCTTCCATT:TT
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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 |
12887 | 14672 |
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) |
criteria provided, single submitter
|
May 9, 2023 | RCV003334738.2 |
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. |
|
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Pathogenic
(May 09, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004043874.2
First in ClinVar: Oct 21, 2023 Last updated: Oct 28, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
|
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 this variant ...
HelpRecord last updated Mar 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.