ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2012dup (p.Gly671_Lys672insTer)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2012dup (p.Gly671_Lys672insTer)
Variation ID: 266209 Accession: VCV000266209.7
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093518-43093519 (GRCh38) [ NCBI UCSC ] 17: 41245535-41245536 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2012dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly671_Lys672insTer frameshift NM_001407571.1:c.1799dup NP_001394500.1:p.Gly600_Lys601insTer frameshift NM_001407581.1:c.2012dup NP_001394510.1:p.Gly671_Lys672insTer frameshift NM_001407582.1:c.2012dup NP_001394511.1:p.Gly671_Lys672insTer frameshift NM_001407583.1:c.2012dup NP_001394512.1:p.Gly671_Lys672insTer frameshift NM_001407585.1:c.2012dup NP_001394514.1:p.Gly671_Lys672insTer frameshift NM_001407587.1:c.2009dup NP_001394516.1:p.Gly670_Lys671insTer frameshift NM_001407590.1:c.2009dup NP_001394519.1:p.Gly670_Lys671insTer frameshift NM_001407591.1:c.2009dup NP_001394520.1:p.Gly670_Lys671insTer frameshift NM_001407593.1:c.2012dup NP_001394522.1:p.Gly671_Lys672insTer frameshift NM_001407594.1:c.2012dup NP_001394523.1:p.Gly671_Lys672insTer frameshift NM_001407596.1:c.2012dup NP_001394525.1:p.Gly671_Lys672insTer frameshift NM_001407597.1:c.2012dup NP_001394526.1:p.Gly671_Lys672insTer frameshift NM_001407598.1:c.2012dup NP_001394527.1:p.Gly671_Lys672insTer frameshift NM_001407602.1:c.2012dup NP_001394531.1:p.Gly671_Lys672insTer frameshift NM_001407603.1:c.2012dup NP_001394532.1:p.Gly671_Lys672insTer frameshift NM_001407605.1:c.2012dup NP_001394534.1:p.Gly671_Lys672insTer frameshift NM_001407610.1:c.2009dup NP_001394539.1:p.Gly670_Lys671insTer frameshift NM_001407611.1:c.2009dup NP_001394540.1:p.Gly670_Lys671insTer frameshift NM_001407612.1:c.2009dup NP_001394541.1:p.Gly670_Lys671insTer frameshift NM_001407613.1:c.2009dup NP_001394542.1:p.Gly670_Lys671insTer frameshift NM_001407614.1:c.2009dup NP_001394543.1:p.Gly670_Lys671insTer frameshift NM_001407615.1:c.2009dup NP_001394544.1:p.Gly670_Lys671insTer frameshift NM_001407616.1:c.2012dup NP_001394545.1:p.Gly671_Lys672insTer frameshift NM_001407617.1:c.2012dup NP_001394546.1:p.Gly671_Lys672insTer frameshift NM_001407618.1:c.2012dup NP_001394547.1:p.Gly671_Lys672insTer frameshift NM_001407619.1:c.2012dup NP_001394548.1:p.Gly671_Lys672insTer frameshift NM_001407620.1:c.2012dup NP_001394549.1:p.Gly671_Lys672insTer frameshift NM_001407621.1:c.2012dup NP_001394550.1:p.Gly671_Lys672insTer frameshift NM_001407622.1:c.2012dup NP_001394551.1:p.Gly671_Lys672insTer frameshift NM_001407623.1:c.2012dup NP_001394552.1:p.Gly671_Lys672insTer frameshift NM_001407624.1:c.2012dup NP_001394553.1:p.Gly671_Lys672insTer frameshift NM_001407625.1:c.2012dup NP_001394554.1:p.Gly671_Lys672insTer frameshift NM_001407626.1:c.2012dup NP_001394555.1:p.Gly671_Lys672insTer frameshift NM_001407627.1:c.2009dup NP_001394556.1:p.Gly670_Lys671insTer frameshift NM_001407628.1:c.2009dup NP_001394557.1:p.Gly670_Lys671insTer frameshift NM_001407629.1:c.2009dup NP_001394558.1:p.Gly670_Lys671insTer frameshift NM_001407630.1:c.2009dup NP_001394559.1:p.Gly670_Lys671insTer frameshift NM_001407631.1:c.2009dup NP_001394560.1:p.Gly670_Lys671insTer frameshift NM_001407632.1:c.2009dup NP_001394561.1:p.Gly670_Lys671insTer frameshift NM_001407633.1:c.2009dup NP_001394562.1:p.Gly670_Lys671insTer frameshift NM_001407634.1:c.2009dup NP_001394563.1:p.Gly670_Lys671insTer frameshift NM_001407635.1:c.2009dup NP_001394564.1:p.Gly670_Lys671insTer frameshift NM_001407636.1:c.2009dup NP_001394565.1:p.Gly670_Lys671insTer frameshift NM_001407637.1:c.2009dup NP_001394566.1:p.Gly670_Lys671insTer frameshift NM_001407638.1:c.2009dup NP_001394567.1:p.Gly670_Lys671insTer frameshift NM_001407639.1:c.2012dup NP_001394568.1:p.Gly671_Lys672insTer frameshift NM_001407640.1:c.2012dup NP_001394569.1:p.Gly671_Lys672insTer frameshift NM_001407641.1:c.2012dup NP_001394570.1:p.Gly671_Lys672insTer frameshift NM_001407642.1:c.2012dup NP_001394571.1:p.Gly671_Lys672insTer frameshift NM_001407644.1:c.2009dup NP_001394573.1:p.Gly670_Lys671insTer frameshift NM_001407645.1:c.2009dup NP_001394574.1:p.Gly670_Lys671insTer frameshift NM_001407646.1:c.2003dup NP_001394575.1:p.Gly668_Lys669insTer frameshift NM_001407647.1:c.2003dup NP_001394576.1:p.Gly668_Lys669insTer frameshift NM_001407648.1:c.1889dup NP_001394577.1:p.Gly630_Lys631insTer frameshift NM_001407649.1:c.1886dup NP_001394578.1:p.Gly629_Lys630insTer frameshift NM_001407652.1:c.2012dup NP_001394581.1:p.Gly671_Lys672insTer frameshift NM_001407653.1:c.1934dup NP_001394582.1:p.Gly645_Lys646insTer frameshift NM_001407654.1:c.1934dup NP_001394583.1:p.Gly645_Lys646insTer frameshift NM_001407655.1:c.1934dup NP_001394584.1:p.Gly645_Lys646insTer frameshift NM_001407656.1:c.1934dup NP_001394585.1:p.Gly645_Lys646insTer frameshift NM_001407657.1:c.1934dup NP_001394586.1:p.Gly645_Lys646insTer frameshift NM_001407658.1:c.1934dup NP_001394587.1:p.Gly645_Lys646insTer frameshift NM_001407659.1:c.1931dup NP_001394588.1:p.Gly644_Lys645insTer frameshift NM_001407660.1:c.1931dup NP_001394589.1:p.Gly644_Lys645insTer frameshift NM_001407661.1:c.1931dup NP_001394590.1:p.Gly644_Lys645insTer frameshift NM_001407662.1:c.1931dup NP_001394591.1:p.Gly644_Lys645insTer frameshift NM_001407663.1:c.1934dup NP_001394592.1:p.Gly645_Lys646insTer frameshift NM_001407664.1:c.1889dup NP_001394593.1:p.Gly630_Lys631insTer frameshift NM_001407665.1:c.1889dup NP_001394594.1:p.Gly630_Lys631insTer frameshift NM_001407666.1:c.1889dup NP_001394595.1:p.Gly630_Lys631insTer frameshift NM_001407667.1:c.1889dup NP_001394596.1:p.Gly630_Lys631insTer frameshift NM_001407668.1:c.1889dup NP_001394597.1:p.Gly630_Lys631insTer frameshift NM_001407669.1:c.1889dup NP_001394598.1:p.Gly630_Lys631insTer frameshift NM_001407670.1:c.1886dup NP_001394599.1:p.Gly629_Lys630insTer frameshift NM_001407671.1:c.1886dup NP_001394600.1:p.Gly629_Lys630insTer frameshift NM_001407672.1:c.1886dup NP_001394601.1:p.Gly629_Lys630insTer frameshift NM_001407673.1:c.1886dup NP_001394602.1:p.Gly629_Lys630insTer frameshift NM_001407674.1:c.1889dup NP_001394603.1:p.Gly630_Lys631insTer frameshift NM_001407675.1:c.1889dup NP_001394604.1:p.Gly630_Lys631insTer frameshift NM_001407676.1:c.1889dup NP_001394605.1:p.Gly630_Lys631insTer frameshift NM_001407677.1:c.1889dup NP_001394606.1:p.Gly630_Lys631insTer frameshift NM_001407678.1:c.1889dup NP_001394607.1:p.Gly630_Lys631insTer frameshift NM_001407679.1:c.1889dup NP_001394608.1:p.Gly630_Lys631insTer frameshift NM_001407680.1:c.1889dup NP_001394609.1:p.Gly630_Lys631insTer frameshift NM_001407681.1:c.1889dup NP_001394610.1:p.Gly630_Lys631insTer frameshift NM_001407682.1:c.1889dup NP_001394611.1:p.Gly630_Lys631insTer frameshift NM_001407683.1:c.1889dup NP_001394612.1:p.Gly630_Lys631insTer frameshift NM_001407684.1:c.2012dup NP_001394613.1:p.Gly671_Lys672insTer frameshift NM_001407685.1:c.1886dup NP_001394614.1:p.Gly629_Lys630insTer frameshift NM_001407686.1:c.1886dup NP_001394615.1:p.Gly629_Lys630insTer frameshift NM_001407687.1:c.1886dup NP_001394616.1:p.Gly629_Lys630insTer frameshift NM_001407688.1:c.1886dup NP_001394617.1:p.Gly629_Lys630insTer frameshift NM_001407689.1:c.1886dup NP_001394618.1:p.Gly629_Lys630insTer frameshift NM_001407690.1:c.1886dup NP_001394619.1:p.Gly629_Lys630insTer frameshift NM_001407691.1:c.1886dup NP_001394620.1:p.Gly629_Lys630insTer frameshift NM_001407692.1:c.1871dup NP_001394621.1:p.Gly624_Lys625insTer frameshift NM_001407694.1:c.1871dup NP_001394623.1:p.Gly624_Lys625insTer frameshift NM_001407695.1:c.1871dup NP_001394624.1:p.Gly624_Lys625insTer frameshift NM_001407696.1:c.1871dup NP_001394625.1:p.Gly624_Lys625insTer frameshift NM_001407697.1:c.1871dup NP_001394626.1:p.Gly624_Lys625insTer frameshift NM_001407698.1:c.1871dup NP_001394627.1:p.Gly624_Lys625insTer frameshift NM_001407724.1:c.1871dup NP_001394653.1:p.Gly624_Lys625insTer frameshift NM_001407725.1:c.1871dup NP_001394654.1:p.Gly624_Lys625insTer frameshift NM_001407726.1:c.1871dup NP_001394655.1:p.Gly624_Lys625insTer frameshift NM_001407727.1:c.1871dup NP_001394656.1:p.Gly624_Lys625insTer frameshift NM_001407728.1:c.1871dup NP_001394657.1:p.Gly624_Lys625insTer frameshift NM_001407729.1:c.1871dup NP_001394658.1:p.Gly624_Lys625insTer frameshift NM_001407730.1:c.1871dup NP_001394659.1:p.Gly624_Lys625insTer frameshift NM_001407731.1:c.1871dup NP_001394660.1:p.Gly624_Lys625insTer frameshift NM_001407732.1:c.1871dup NP_001394661.1:p.Gly624_Lys625insTer frameshift NM_001407733.1:c.1871dup NP_001394662.1:p.Gly624_Lys625insTer frameshift NM_001407734.1:c.1871dup NP_001394663.1:p.Gly624_Lys625insTer frameshift NM_001407735.1:c.1871dup NP_001394664.1:p.Gly624_Lys625insTer frameshift NM_001407736.1:c.1871dup NP_001394665.1:p.Gly624_Lys625insTer frameshift NM_001407737.1:c.1871dup NP_001394666.1:p.Gly624_Lys625insTer frameshift NM_001407738.1:c.1871dup NP_001394667.1:p.Gly624_Lys625insTer frameshift NM_001407739.1:c.1871dup NP_001394668.1:p.Gly624_Lys625insTer frameshift NM_001407740.1:c.1868dup NP_001394669.1:p.Gly623_Lys624insTer frameshift NM_001407741.1:c.1868dup NP_001394670.1:p.Gly623_Lys624insTer frameshift NM_001407742.1:c.1868dup NP_001394671.1:p.Gly623_Lys624insTer frameshift NM_001407743.1:c.1868dup NP_001394672.1:p.Gly623_Lys624insTer frameshift NM_001407744.1:c.1868dup NP_001394673.1:p.Gly623_Lys624insTer frameshift NM_001407745.1:c.1868dup NP_001394674.1:p.Gly623_Lys624insTer frameshift NM_001407746.1:c.1868dup NP_001394675.1:p.Gly623_Lys624insTer frameshift NM_001407747.1:c.1868dup NP_001394676.1:p.Gly623_Lys624insTer frameshift NM_001407748.1:c.1868dup NP_001394677.1:p.Gly623_Lys624insTer frameshift NM_001407749.1:c.1868dup NP_001394678.1:p.Gly623_Lys624insTer frameshift NM_001407750.1:c.1871dup NP_001394679.1:p.Gly624_Lys625insTer frameshift NM_001407751.1:c.1871dup NP_001394680.1:p.Gly624_Lys625insTer frameshift NM_001407752.1:c.1871dup NP_001394681.1:p.Gly624_Lys625insTer frameshift NM_001407838.1:c.1868dup NP_001394767.1:p.Gly623_Lys624insTer frameshift NM_001407839.1:c.1868dup NP_001394768.1:p.Gly623_Lys624insTer frameshift NM_001407841.1:c.1868dup NP_001394770.1:p.Gly623_Lys624insTer frameshift NM_001407842.1:c.1868dup NP_001394771.1:p.Gly623_Lys624insTer frameshift NM_001407843.1:c.1868dup NP_001394772.1:p.Gly623_Lys624insTer frameshift NM_001407844.1:c.1868dup NP_001394773.1:p.Gly623_Lys624insTer frameshift NM_001407845.1:c.1868dup NP_001394774.1:p.Gly623_Lys624insTer frameshift NM_001407846.1:c.1868dup NP_001394775.1:p.Gly623_Lys624insTer frameshift NM_001407847.1:c.1868dup NP_001394776.1:p.Gly623_Lys624insTer frameshift NM_001407848.1:c.1868dup NP_001394777.1:p.Gly623_Lys624insTer frameshift NM_001407849.1:c.1868dup NP_001394778.1:p.Gly623_Lys624insTer frameshift NM_001407850.1:c.1871dup NP_001394779.1:p.Gly624_Lys625insTer frameshift NM_001407851.1:c.1871dup NP_001394780.1:p.Gly624_Lys625insTer frameshift NM_001407852.1:c.1871dup NP_001394781.1:p.Gly624_Lys625insTer frameshift NM_001407853.1:c.1799dup NP_001394782.1:p.Gly600_Lys601insTer frameshift NM_001407854.1:c.2012dup NP_001394783.1:p.Gly671_Lys672insTer frameshift NM_001407858.1:c.2012dup NP_001394787.1:p.Gly671_Lys672insTer frameshift NM_001407859.1:c.2012dup NP_001394788.1:p.Gly671_Lys672insTer frameshift NM_001407860.1:c.2009dup NP_001394789.1:p.Gly670_Lys671insTer frameshift NM_001407861.1:c.2009dup NP_001394790.1:p.Gly670_Lys671insTer frameshift NM_001407862.1:c.1811dup NP_001394791.1:p.Gly604_Lys605insTer frameshift NM_001407863.1:c.1889dup NP_001394792.1:p.Gly630_Lys631insTer frameshift NM_001407874.1:c.1808dup NP_001394803.1:p.Gly603_Lys604insTer frameshift NM_001407875.1:c.1808dup NP_001394804.1:p.Gly603_Lys604insTer frameshift NM_001407879.1:c.1802dup NP_001394808.1:p.Gly601_Lys602insTer frameshift NM_001407881.1:c.1802dup NP_001394810.1:p.Gly601_Lys602insTer frameshift NM_001407882.1:c.1802dup NP_001394811.1:p.Gly601_Lys602insTer frameshift NM_001407884.1:c.1802dup NP_001394813.1:p.Gly601_Lys602insTer frameshift NM_001407885.1:c.1802dup NP_001394814.1:p.Gly601_Lys602insTer frameshift NM_001407886.1:c.1802dup NP_001394815.1:p.Gly601_Lys602insTer frameshift NM_001407887.1:c.1802dup NP_001394816.1:p.Gly601_Lys602insTer frameshift NM_001407889.1:c.1802dup NP_001394818.1:p.Gly601_Lys602insTer frameshift NM_001407894.1:c.1799dup NP_001394823.1:p.Gly600_Lys601insTer frameshift NM_001407895.1:c.1799dup NP_001394824.1:p.Gly600_Lys601insTer frameshift NM_001407896.1:c.1799dup NP_001394825.1:p.Gly600_Lys601insTer frameshift NM_001407897.1:c.1799dup NP_001394826.1:p.Gly600_Lys601insTer frameshift NM_001407898.1:c.1799dup NP_001394827.1:p.Gly600_Lys601insTer frameshift NM_001407899.1:c.1799dup NP_001394828.1:p.Gly600_Lys601insTer frameshift NM_001407900.1:c.1802dup NP_001394829.1:p.Gly601_Lys602insTer frameshift NM_001407902.1:c.1802dup NP_001394831.1:p.Gly601_Lys602insTer frameshift NM_001407904.1:c.1802dup NP_001394833.1:p.Gly601_Lys602insTer frameshift NM_001407906.1:c.1802dup NP_001394835.1:p.Gly601_Lys602insTer frameshift NM_001407907.1:c.1802dup NP_001394836.1:p.Gly601_Lys602insTer frameshift NM_001407908.1:c.1802dup NP_001394837.1:p.Gly601_Lys602insTer frameshift NM_001407909.1:c.1802dup NP_001394838.1:p.Gly601_Lys602insTer frameshift NM_001407910.1:c.1802dup NP_001394839.1:p.Gly601_Lys602insTer frameshift NM_001407915.1:c.1799dup NP_001394844.1:p.Gly600_Lys601insTer frameshift NM_001407916.1:c.1799dup NP_001394845.1:p.Gly600_Lys601insTer frameshift NM_001407917.1:c.1799dup NP_001394846.1:p.Gly600_Lys601insTer frameshift NM_001407918.1:c.1799dup NP_001394847.1:p.Gly600_Lys601insTer frameshift NM_001407919.1:c.1889dup NP_001394848.1:p.Gly630_Lys631insTer frameshift NM_001407920.1:c.1748dup NP_001394849.1:p.Gly583_Lys584insTer frameshift NM_001407921.1:c.1748dup NP_001394850.1:p.Gly583_Lys584insTer frameshift NM_001407922.1:c.1748dup NP_001394851.1:p.Gly583_Lys584insTer frameshift NM_001407923.1:c.1748dup NP_001394852.1:p.Gly583_Lys584insTer frameshift NM_001407924.1:c.1748dup NP_001394853.1:p.Gly583_Lys584insTer frameshift NM_001407925.1:c.1748dup NP_001394854.1:p.Gly583_Lys584insTer frameshift NM_001407926.1:c.1748dup NP_001394855.1:p.Gly583_Lys584insTer frameshift NM_001407927.1:c.1748dup NP_001394856.1:p.Gly583_Lys584insTer frameshift NM_001407928.1:c.1748dup NP_001394857.1:p.Gly583_Lys584insTer frameshift NM_001407929.1:c.1748dup NP_001394858.1:p.Gly583_Lys584insTer frameshift NM_001407930.1:c.1745dup NP_001394859.1:p.Gly582_Lys583insTer frameshift NM_001407931.1:c.1745dup NP_001394860.1:p.Gly582_Lys583insTer frameshift NM_001407932.1:c.1745dup NP_001394861.1:p.Gly582_Lys583insTer frameshift NM_001407933.1:c.1748dup NP_001394862.1:p.Gly583_Lys584insTer frameshift NM_001407934.1:c.1745dup NP_001394863.1:p.Gly582_Lys583insTer frameshift NM_001407935.1:c.1748dup NP_001394864.1:p.Gly583_Lys584insTer frameshift NM_001407936.1:c.1745dup NP_001394865.1:p.Gly582_Lys583insTer frameshift NM_001407937.1:c.1889dup NP_001394866.1:p.Gly630_Lys631insTer frameshift NM_001407938.1:c.1889dup NP_001394867.1:p.Gly630_Lys631insTer frameshift NM_001407939.1:c.1889dup NP_001394868.1:p.Gly630_Lys631insTer frameshift NM_001407940.1:c.1886dup NP_001394869.1:p.Gly629_Lys630insTer frameshift NM_001407941.1:c.1886dup NP_001394870.1:p.Gly629_Lys630insTer frameshift NM_001407942.1:c.1871dup NP_001394871.1:p.Gly624_Lys625insTer frameshift NM_001407943.1:c.1868dup NP_001394872.1:p.Gly623_Lys624insTer frameshift NM_001407944.1:c.1871dup NP_001394873.1:p.Gly624_Lys625insTer frameshift NM_001407945.1:c.1871dup NP_001394874.1:p.Gly624_Lys625insTer frameshift NM_001407946.1:c.1679dup NP_001394875.1:p.Gly560_Lys561insTer frameshift NM_001407947.1:c.1679dup NP_001394876.1:p.Gly560_Lys561insTer frameshift NM_001407948.1:c.1679dup NP_001394877.1:p.Gly560_Lys561insTer frameshift NM_001407949.1:c.1679dup NP_001394878.1:p.Gly560_Lys561insTer frameshift NM_001407950.1:c.1679dup NP_001394879.1:p.Gly560_Lys561insTer frameshift NM_001407951.1:c.1679dup NP_001394880.1:p.Gly560_Lys561insTer frameshift NM_001407952.1:c.1679dup NP_001394881.1:p.Gly560_Lys561insTer frameshift NM_001407953.1:c.1679dup NP_001394882.1:p.Gly560_Lys561insTer frameshift NM_001407954.1:c.1676dup NP_001394883.1:p.Gly559_Lys560insTer frameshift NM_001407955.1:c.1676dup NP_001394884.1:p.Gly559_Lys560insTer frameshift NM_001407956.1:c.1676dup NP_001394885.1:p.Gly559_Lys560insTer frameshift NM_001407957.1:c.1679dup NP_001394886.1:p.Gly560_Lys561insTer frameshift NM_001407958.1:c.1676dup NP_001394887.1:p.Gly559_Lys560insTer frameshift NM_001407959.1:c.1631dup NP_001394888.1:p.Gly544_Lys545insTer frameshift NM_001407960.1:c.1631dup NP_001394889.1:p.Gly544_Lys545insTer frameshift NM_001407962.1:c.1628dup NP_001394891.1:p.Gly543_Lys544insTer frameshift NM_001407963.1:c.1631dup NP_001394892.1:p.Gly544_Lys545insTer frameshift NM_001407964.1:c.1868dup NP_001394893.1:p.Gly623_Lys624insTer frameshift NM_001407965.1:c.1508dup NP_001394894.1:p.Gly503_Lys504insTer frameshift NM_001407966.1:c.1124dup NP_001394895.1:p.Gly375_Lys376insTer frameshift NM_001407967.1:c.1124dup NP_001394896.1:p.Gly375_Lys376insTer frameshift NM_001407968.1:c.787+1225dup intron variant NM_001407969.1:c.787+1225dup intron variant NM_001407970.1:c.787+1225dup intron variant NM_001407971.1:c.787+1225dup intron variant NM_001407972.1:c.784+1225dup intron variant NM_001407973.1:c.787+1225dup intron variant NM_001407974.1:c.787+1225dup intron variant NM_001407975.1:c.787+1225dup intron variant NM_001407976.1:c.787+1225dup intron variant NM_001407977.1:c.787+1225dup intron variant NM_001407978.1:c.787+1225dup intron variant NM_001407979.1:c.787+1225dup intron variant NM_001407980.1:c.787+1225dup intron variant NM_001407981.1:c.787+1225dup intron variant NM_001407982.1:c.787+1225dup intron variant NM_001407983.1:c.787+1225dup intron variant NM_001407984.1:c.784+1225dup intron variant NM_001407985.1:c.784+1225dup intron variant NM_001407986.1:c.784+1225dup intron variant NM_001407990.1:c.787+1225dup intron variant NM_001407991.1:c.784+1225dup intron variant NM_001407992.1:c.784+1225dup intron variant NM_001407993.1:c.787+1225dup intron variant NM_001408392.1:c.784+1225dup intron variant NM_001408396.1:c.784+1225dup intron variant NM_001408397.1:c.784+1225dup intron variant NM_001408398.1:c.784+1225dup intron variant NM_001408399.1:c.784+1225dup intron variant NM_001408400.1:c.784+1225dup intron variant NM_001408401.1:c.784+1225dup intron variant NM_001408402.1:c.784+1225dup intron variant NM_001408403.1:c.787+1225dup intron variant NM_001408404.1:c.787+1225dup intron variant NM_001408406.1:c.790+1222dup intron variant NM_001408407.1:c.784+1225dup intron variant NM_001408408.1:c.778+1225dup intron variant NM_001408409.1:c.709+1225dup intron variant NM_001408410.1:c.646+1225dup intron variant NM_001408411.1:c.709+1225dup intron variant NM_001408412.1:c.709+1225dup intron variant NM_001408413.1:c.706+1225dup intron variant NM_001408414.1:c.709+1225dup intron variant NM_001408415.1:c.709+1225dup intron variant NM_001408416.1:c.706+1225dup intron variant NM_001408418.1:c.670+2327dup intron variant NM_001408419.1:c.670+2327dup intron variant NM_001408420.1:c.670+2327dup intron variant NM_001408421.1:c.667+2327dup intron variant NM_001408422.1:c.670+2327dup intron variant NM_001408423.1:c.670+2327dup intron variant NM_001408424.1:c.667+2327dup intron variant NM_001408425.1:c.664+1225dup intron variant NM_001408426.1:c.664+1225dup intron variant NM_001408427.1:c.664+1225dup intron variant NM_001408428.1:c.664+1225dup intron variant NM_001408429.1:c.664+1225dup intron variant NM_001408430.1:c.664+1225dup intron variant NM_001408431.1:c.667+2327dup intron variant NM_001408432.1:c.661+1225dup intron variant NM_001408433.1:c.661+1225dup intron variant NM_001408434.1:c.661+1225dup intron variant NM_001408435.1:c.661+1225dup intron variant NM_001408436.1:c.664+1225dup intron variant NM_001408437.1:c.664+1225dup intron variant NM_001408438.1:c.664+1225dup intron variant NM_001408439.1:c.664+1225dup intron variant NM_001408440.1:c.664+1225dup intron variant NM_001408441.1:c.664+1225dup intron variant NM_001408442.1:c.664+1225dup intron variant NM_001408443.1:c.664+1225dup intron variant NM_001408444.1:c.664+1225dup intron variant NM_001408445.1:c.661+1225dup intron variant NM_001408446.1:c.661+1225dup intron variant NM_001408447.1:c.661+1225dup intron variant NM_001408448.1:c.661+1225dup intron variant NM_001408450.1:c.661+1225dup intron variant NM_001408451.1:c.652+1225dup intron variant NM_001408452.1:c.646+1225dup intron variant NM_001408453.1:c.646+1225dup intron variant NM_001408454.1:c.646+1225dup intron variant NM_001408455.1:c.646+1225dup intron variant NM_001408456.1:c.646+1225dup intron variant NM_001408457.1:c.646+1225dup intron variant NM_001408458.1:c.646+1225dup intron variant NM_001408459.1:c.646+1225dup intron variant NM_001408460.1:c.646+1225dup intron variant NM_001408461.1:c.646+1225dup intron variant NM_001408462.1:c.643+1225dup intron variant NM_001408463.1:c.643+1225dup intron variant NM_001408464.1:c.643+1225dup intron variant NM_001408465.1:c.643+1225dup intron variant NM_001408466.1:c.646+1225dup intron variant NM_001408467.1:c.646+1225dup intron variant NM_001408468.1:c.643+1225dup intron variant NM_001408469.1:c.646+1225dup intron variant NM_001408470.1:c.643+1225dup intron variant NM_001408472.1:c.787+1225dup intron variant NM_001408473.1:c.784+1225dup intron variant NM_001408474.1:c.586+1225dup intron variant NM_001408475.1:c.583+1225dup intron variant NM_001408476.1:c.586+1225dup intron variant NM_001408478.1:c.577+1225dup intron variant NM_001408479.1:c.577+1225dup intron variant NM_001408480.1:c.577+1225dup intron variant NM_001408481.1:c.577+1225dup intron variant NM_001408482.1:c.577+1225dup intron variant NM_001408483.1:c.577+1225dup intron variant NM_001408484.1:c.577+1225dup intron variant NM_001408485.1:c.577+1225dup intron variant NM_001408489.1:c.577+1225dup intron variant NM_001408490.1:c.574+1225dup intron variant NM_001408491.1:c.574+1225dup intron variant NM_001408492.1:c.577+1225dup intron variant NM_001408493.1:c.574+1225dup intron variant NM_001408494.1:c.548-2487dup intron variant NM_001408495.1:c.545-2487dup intron variant NM_001408496.1:c.523+1225dup intron variant NM_001408497.1:c.523+1225dup intron variant NM_001408498.1:c.523+1225dup intron variant NM_001408499.1:c.523+1225dup intron variant NM_001408500.1:c.523+1225dup intron variant NM_001408501.1:c.523+1225dup intron variant NM_001408502.1:c.454+1225dup intron variant NM_001408503.1:c.520+1225dup intron variant NM_001408504.1:c.520+1225dup intron variant NM_001408505.1:c.520+1225dup intron variant NM_001408506.1:c.460+2327dup intron variant NM_001408507.1:c.460+2327dup intron variant NM_001408508.1:c.451+1225dup intron variant NM_001408509.1:c.451+1225dup intron variant NM_001408510.1:c.406+1225dup intron variant NM_001408511.1:c.404-2487dup intron variant NM_001408512.1:c.283+1225dup intron variant NM_001408513.1:c.577+1225dup intron variant NM_001408514.1:c.577+1225dup intron variant NM_007294.3:c.2012dup NP_009225.1:p.Gly671_Lys672insTer frameshift nonsense NM_007297.4:c.1871dup NP_009228.2:p.Gly624_Lys625insTer frameshift NM_007298.4:c.787+1225dup intron variant NM_007299.4:c.787+1225dup intron variant NM_007300.4:c.2012dup NP_009231.2:p.Gly671_Lys672insTer frameshift NR_027676.1:n.2147dup NC_000017.11:g.43093520dup NC_000017.10:g.41245537dup NG_005905.2:g.124465dup LRG_292:g.124465dup LRG_292t1:c.2011dup LRG_292p1:p.Lys672Terfs - Protein change
- Other names
- 2131insG
- Canonical SPDI
- NC_000017.11:43093518:CC:CCC
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
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
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Oct 18, 2016 | RCV000257616.13 |
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)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323385.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325211.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
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 rs886039989 ...
HelpRecord last updated Oct 13, 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.