ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
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
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NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
Variation ID: 54683 Accession: VCV000054683.27
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092731 (GRCh38) [ NCBI UCSC ] 17: 41244748 (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 Sep 27, 2014 May 1, 2024 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2800C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln934Ter nonsense NM_001407571.1:c.2587C>T NP_001394500.1:p.Gln863Ter nonsense NM_001407581.1:c.2800C>T NP_001394510.1:p.Gln934Ter nonsense NM_001407582.1:c.2800C>T NP_001394511.1:p.Gln934Ter nonsense NM_001407583.1:c.2800C>T NP_001394512.1:p.Gln934Ter nonsense NM_001407585.1:c.2800C>T NP_001394514.1:p.Gln934Ter nonsense NM_001407587.1:c.2797C>T NP_001394516.1:p.Gln933Ter nonsense NM_001407590.1:c.2797C>T NP_001394519.1:p.Gln933Ter nonsense NM_001407591.1:c.2797C>T NP_001394520.1:p.Gln933Ter nonsense NM_001407593.1:c.2800C>T NP_001394522.1:p.Gln934Ter nonsense NM_001407594.1:c.2800C>T NP_001394523.1:p.Gln934Ter nonsense NM_001407596.1:c.2800C>T NP_001394525.1:p.Gln934Ter nonsense NM_001407597.1:c.2800C>T NP_001394526.1:p.Gln934Ter nonsense NM_001407598.1:c.2800C>T NP_001394527.1:p.Gln934Ter nonsense NM_001407602.1:c.2800C>T NP_001394531.1:p.Gln934Ter nonsense NM_001407603.1:c.2800C>T NP_001394532.1:p.Gln934Ter nonsense NM_001407605.1:c.2800C>T NP_001394534.1:p.Gln934Ter nonsense NM_001407610.1:c.2797C>T NP_001394539.1:p.Gln933Ter nonsense NM_001407611.1:c.2797C>T NP_001394540.1:p.Gln933Ter nonsense NM_001407612.1:c.2797C>T NP_001394541.1:p.Gln933Ter nonsense NM_001407613.1:c.2797C>T NP_001394542.1:p.Gln933Ter nonsense NM_001407614.1:c.2797C>T NP_001394543.1:p.Gln933Ter nonsense NM_001407615.1:c.2797C>T NP_001394544.1:p.Gln933Ter nonsense NM_001407616.1:c.2800C>T NP_001394545.1:p.Gln934Ter nonsense NM_001407617.1:c.2800C>T NP_001394546.1:p.Gln934Ter nonsense NM_001407618.1:c.2800C>T NP_001394547.1:p.Gln934Ter nonsense NM_001407619.1:c.2800C>T NP_001394548.1:p.Gln934Ter nonsense NM_001407620.1:c.2800C>T NP_001394549.1:p.Gln934Ter nonsense NM_001407621.1:c.2800C>T NP_001394550.1:p.Gln934Ter nonsense NM_001407622.1:c.2800C>T NP_001394551.1:p.Gln934Ter nonsense NM_001407623.1:c.2800C>T NP_001394552.1:p.Gln934Ter nonsense NM_001407624.1:c.2800C>T NP_001394553.1:p.Gln934Ter nonsense NM_001407625.1:c.2800C>T NP_001394554.1:p.Gln934Ter nonsense NM_001407626.1:c.2800C>T NP_001394555.1:p.Gln934Ter nonsense NM_001407627.1:c.2797C>T NP_001394556.1:p.Gln933Ter nonsense NM_001407628.1:c.2797C>T NP_001394557.1:p.Gln933Ter nonsense NM_001407629.1:c.2797C>T NP_001394558.1:p.Gln933Ter nonsense NM_001407630.1:c.2797C>T NP_001394559.1:p.Gln933Ter nonsense NM_001407631.1:c.2797C>T NP_001394560.1:p.Gln933Ter nonsense NM_001407632.1:c.2797C>T NP_001394561.1:p.Gln933Ter nonsense NM_001407633.1:c.2797C>T NP_001394562.1:p.Gln933Ter nonsense NM_001407634.1:c.2797C>T NP_001394563.1:p.Gln933Ter nonsense NM_001407635.1:c.2797C>T NP_001394564.1:p.Gln933Ter nonsense NM_001407636.1:c.2797C>T NP_001394565.1:p.Gln933Ter nonsense NM_001407637.1:c.2797C>T NP_001394566.1:p.Gln933Ter nonsense NM_001407638.1:c.2797C>T NP_001394567.1:p.Gln933Ter nonsense NM_001407639.1:c.2800C>T NP_001394568.1:p.Gln934Ter nonsense NM_001407640.1:c.2800C>T NP_001394569.1:p.Gln934Ter nonsense NM_001407641.1:c.2800C>T NP_001394570.1:p.Gln934Ter nonsense NM_001407642.1:c.2800C>T NP_001394571.1:p.Gln934Ter nonsense NM_001407644.1:c.2797C>T NP_001394573.1:p.Gln933Ter nonsense NM_001407645.1:c.2797C>T NP_001394574.1:p.Gln933Ter nonsense NM_001407646.1:c.2791C>T NP_001394575.1:p.Gln931Ter nonsense NM_001407647.1:c.2791C>T NP_001394576.1:p.Gln931Ter nonsense NM_001407648.1:c.2677C>T NP_001394577.1:p.Gln893Ter nonsense NM_001407649.1:c.2674C>T NP_001394578.1:p.Gln892Ter nonsense NM_001407652.1:c.2800C>T NP_001394581.1:p.Gln934Ter nonsense NM_001407653.1:c.2722C>T NP_001394582.1:p.Gln908Ter nonsense NM_001407654.1:c.2722C>T NP_001394583.1:p.Gln908Ter nonsense NM_001407655.1:c.2722C>T NP_001394584.1:p.Gln908Ter nonsense NM_001407656.1:c.2722C>T NP_001394585.1:p.Gln908Ter nonsense NM_001407657.1:c.2722C>T NP_001394586.1:p.Gln908Ter nonsense NM_001407658.1:c.2722C>T NP_001394587.1:p.Gln908Ter nonsense NM_001407659.1:c.2719C>T NP_001394588.1:p.Gln907Ter nonsense NM_001407660.1:c.2719C>T NP_001394589.1:p.Gln907Ter nonsense NM_001407661.1:c.2719C>T NP_001394590.1:p.Gln907Ter nonsense NM_001407662.1:c.2719C>T NP_001394591.1:p.Gln907Ter nonsense NM_001407663.1:c.2722C>T NP_001394592.1:p.Gln908Ter nonsense NM_001407664.1:c.2677C>T NP_001394593.1:p.Gln893Ter nonsense NM_001407665.1:c.2677C>T NP_001394594.1:p.Gln893Ter nonsense NM_001407666.1:c.2677C>T NP_001394595.1:p.Gln893Ter nonsense NM_001407667.1:c.2677C>T NP_001394596.1:p.Gln893Ter nonsense NM_001407668.1:c.2677C>T NP_001394597.1:p.Gln893Ter nonsense NM_001407669.1:c.2677C>T NP_001394598.1:p.Gln893Ter nonsense NM_001407670.1:c.2674C>T NP_001394599.1:p.Gln892Ter nonsense NM_001407671.1:c.2674C>T NP_001394600.1:p.Gln892Ter nonsense NM_001407672.1:c.2674C>T NP_001394601.1:p.Gln892Ter nonsense NM_001407673.1:c.2674C>T NP_001394602.1:p.Gln892Ter nonsense NM_001407674.1:c.2677C>T NP_001394603.1:p.Gln893Ter nonsense NM_001407675.1:c.2677C>T NP_001394604.1:p.Gln893Ter nonsense NM_001407676.1:c.2677C>T NP_001394605.1:p.Gln893Ter nonsense NM_001407677.1:c.2677C>T NP_001394606.1:p.Gln893Ter nonsense NM_001407678.1:c.2677C>T NP_001394607.1:p.Gln893Ter nonsense NM_001407679.1:c.2677C>T NP_001394608.1:p.Gln893Ter nonsense NM_001407680.1:c.2677C>T NP_001394609.1:p.Gln893Ter nonsense NM_001407681.1:c.2677C>T NP_001394610.1:p.Gln893Ter nonsense NM_001407682.1:c.2677C>T NP_001394611.1:p.Gln893Ter nonsense NM_001407683.1:c.2677C>T NP_001394612.1:p.Gln893Ter nonsense NM_001407684.1:c.2800C>T NP_001394613.1:p.Gln934Ter nonsense NM_001407685.1:c.2674C>T NP_001394614.1:p.Gln892Ter nonsense NM_001407686.1:c.2674C>T NP_001394615.1:p.Gln892Ter nonsense NM_001407687.1:c.2674C>T NP_001394616.1:p.Gln892Ter nonsense NM_001407688.1:c.2674C>T NP_001394617.1:p.Gln892Ter nonsense NM_001407689.1:c.2674C>T NP_001394618.1:p.Gln892Ter nonsense NM_001407690.1:c.2674C>T NP_001394619.1:p.Gln892Ter nonsense NM_001407691.1:c.2674C>T NP_001394620.1:p.Gln892Ter nonsense NM_001407692.1:c.2659C>T NP_001394621.1:p.Gln887Ter nonsense NM_001407694.1:c.2659C>T NP_001394623.1:p.Gln887Ter nonsense NM_001407695.1:c.2659C>T NP_001394624.1:p.Gln887Ter nonsense NM_001407696.1:c.2659C>T NP_001394625.1:p.Gln887Ter nonsense NM_001407697.1:c.2659C>T NP_001394626.1:p.Gln887Ter nonsense NM_001407698.1:c.2659C>T NP_001394627.1:p.Gln887Ter nonsense NM_001407724.1:c.2659C>T NP_001394653.1:p.Gln887Ter nonsense NM_001407725.1:c.2659C>T NP_001394654.1:p.Gln887Ter nonsense NM_001407726.1:c.2659C>T NP_001394655.1:p.Gln887Ter nonsense NM_001407727.1:c.2659C>T NP_001394656.1:p.Gln887Ter nonsense NM_001407728.1:c.2659C>T NP_001394657.1:p.Gln887Ter nonsense NM_001407729.1:c.2659C>T NP_001394658.1:p.Gln887Ter nonsense NM_001407730.1:c.2659C>T NP_001394659.1:p.Gln887Ter nonsense NM_001407731.1:c.2659C>T NP_001394660.1:p.Gln887Ter nonsense NM_001407732.1:c.2659C>T NP_001394661.1:p.Gln887Ter nonsense NM_001407733.1:c.2659C>T NP_001394662.1:p.Gln887Ter nonsense NM_001407734.1:c.2659C>T NP_001394663.1:p.Gln887Ter nonsense NM_001407735.1:c.2659C>T NP_001394664.1:p.Gln887Ter nonsense NM_001407736.1:c.2659C>T NP_001394665.1:p.Gln887Ter nonsense NM_001407737.1:c.2659C>T NP_001394666.1:p.Gln887Ter nonsense NM_001407738.1:c.2659C>T NP_001394667.1:p.Gln887Ter nonsense NM_001407739.1:c.2659C>T NP_001394668.1:p.Gln887Ter nonsense NM_001407740.1:c.2656C>T NP_001394669.1:p.Gln886Ter nonsense NM_001407741.1:c.2656C>T NP_001394670.1:p.Gln886Ter nonsense NM_001407742.1:c.2656C>T NP_001394671.1:p.Gln886Ter nonsense NM_001407743.1:c.2656C>T NP_001394672.1:p.Gln886Ter nonsense NM_001407744.1:c.2656C>T NP_001394673.1:p.Gln886Ter nonsense NM_001407745.1:c.2656C>T NP_001394674.1:p.Gln886Ter nonsense NM_001407746.1:c.2656C>T NP_001394675.1:p.Gln886Ter nonsense NM_001407747.1:c.2656C>T NP_001394676.1:p.Gln886Ter nonsense NM_001407748.1:c.2656C>T NP_001394677.1:p.Gln886Ter nonsense NM_001407749.1:c.2656C>T NP_001394678.1:p.Gln886Ter nonsense NM_001407750.1:c.2659C>T NP_001394679.1:p.Gln887Ter nonsense NM_001407751.1:c.2659C>T NP_001394680.1:p.Gln887Ter nonsense NM_001407752.1:c.2659C>T NP_001394681.1:p.Gln887Ter nonsense NM_001407838.1:c.2656C>T NP_001394767.1:p.Gln886Ter nonsense NM_001407839.1:c.2656C>T NP_001394768.1:p.Gln886Ter nonsense NM_001407841.1:c.2656C>T NP_001394770.1:p.Gln886Ter nonsense NM_001407842.1:c.2656C>T NP_001394771.1:p.Gln886Ter nonsense NM_001407843.1:c.2656C>T NP_001394772.1:p.Gln886Ter nonsense NM_001407844.1:c.2656C>T NP_001394773.1:p.Gln886Ter nonsense NM_001407845.1:c.2656C>T NP_001394774.1:p.Gln886Ter nonsense NM_001407846.1:c.2656C>T NP_001394775.1:p.Gln886Ter nonsense NM_001407847.1:c.2656C>T NP_001394776.1:p.Gln886Ter nonsense NM_001407848.1:c.2656C>T NP_001394777.1:p.Gln886Ter nonsense NM_001407849.1:c.2656C>T NP_001394778.1:p.Gln886Ter nonsense NM_001407850.1:c.2659C>T NP_001394779.1:p.Gln887Ter nonsense NM_001407851.1:c.2659C>T NP_001394780.1:p.Gln887Ter nonsense NM_001407852.1:c.2659C>T NP_001394781.1:p.Gln887Ter nonsense NM_001407853.1:c.2587C>T NP_001394782.1:p.Gln863Ter nonsense NM_001407854.1:c.2800C>T NP_001394783.1:p.Gln934Ter nonsense NM_001407858.1:c.2800C>T NP_001394787.1:p.Gln934Ter nonsense NM_001407859.1:c.2800C>T NP_001394788.1:p.Gln934Ter nonsense NM_001407860.1:c.2797C>T NP_001394789.1:p.Gln933Ter nonsense NM_001407861.1:c.2797C>T NP_001394790.1:p.Gln933Ter nonsense NM_001407862.1:c.2599C>T NP_001394791.1:p.Gln867Ter nonsense NM_001407863.1:c.2677C>T NP_001394792.1:p.Gln893Ter nonsense NM_001407874.1:c.2596C>T NP_001394803.1:p.Gln866Ter nonsense NM_001407875.1:c.2596C>T NP_001394804.1:p.Gln866Ter nonsense NM_001407879.1:c.2590C>T NP_001394808.1:p.Gln864Ter nonsense NM_001407881.1:c.2590C>T NP_001394810.1:p.Gln864Ter nonsense NM_001407882.1:c.2590C>T NP_001394811.1:p.Gln864Ter nonsense NM_001407884.1:c.2590C>T NP_001394813.1:p.Gln864Ter nonsense NM_001407885.1:c.2590C>T NP_001394814.1:p.Gln864Ter nonsense NM_001407886.1:c.2590C>T NP_001394815.1:p.Gln864Ter nonsense NM_001407887.1:c.2590C>T NP_001394816.1:p.Gln864Ter nonsense NM_001407889.1:c.2590C>T NP_001394818.1:p.Gln864Ter nonsense NM_001407894.1:c.2587C>T NP_001394823.1:p.Gln863Ter nonsense NM_001407895.1:c.2587C>T NP_001394824.1:p.Gln863Ter nonsense NM_001407896.1:c.2587C>T NP_001394825.1:p.Gln863Ter nonsense NM_001407897.1:c.2587C>T NP_001394826.1:p.Gln863Ter nonsense NM_001407898.1:c.2587C>T NP_001394827.1:p.Gln863Ter nonsense NM_001407899.1:c.2587C>T NP_001394828.1:p.Gln863Ter nonsense NM_001407900.1:c.2590C>T NP_001394829.1:p.Gln864Ter nonsense NM_001407902.1:c.2590C>T NP_001394831.1:p.Gln864Ter nonsense NM_001407904.1:c.2590C>T NP_001394833.1:p.Gln864Ter nonsense NM_001407906.1:c.2590C>T NP_001394835.1:p.Gln864Ter nonsense NM_001407907.1:c.2590C>T NP_001394836.1:p.Gln864Ter nonsense NM_001407908.1:c.2590C>T NP_001394837.1:p.Gln864Ter nonsense NM_001407909.1:c.2590C>T NP_001394838.1:p.Gln864Ter nonsense NM_001407910.1:c.2590C>T NP_001394839.1:p.Gln864Ter nonsense NM_001407915.1:c.2587C>T NP_001394844.1:p.Gln863Ter nonsense NM_001407916.1:c.2587C>T NP_001394845.1:p.Gln863Ter nonsense NM_001407917.1:c.2587C>T NP_001394846.1:p.Gln863Ter nonsense NM_001407918.1:c.2587C>T NP_001394847.1:p.Gln863Ter nonsense NM_001407919.1:c.2677C>T NP_001394848.1:p.Gln893Ter nonsense NM_001407920.1:c.2536C>T NP_001394849.1:p.Gln846Ter nonsense NM_001407921.1:c.2536C>T NP_001394850.1:p.Gln846Ter nonsense NM_001407922.1:c.2536C>T NP_001394851.1:p.Gln846Ter nonsense NM_001407923.1:c.2536C>T NP_001394852.1:p.Gln846Ter nonsense NM_001407924.1:c.2536C>T NP_001394853.1:p.Gln846Ter nonsense NM_001407925.1:c.2536C>T NP_001394854.1:p.Gln846Ter nonsense NM_001407926.1:c.2536C>T NP_001394855.1:p.Gln846Ter nonsense NM_001407927.1:c.2536C>T NP_001394856.1:p.Gln846Ter nonsense NM_001407928.1:c.2536C>T NP_001394857.1:p.Gln846Ter nonsense NM_001407929.1:c.2536C>T NP_001394858.1:p.Gln846Ter nonsense NM_001407930.1:c.2533C>T NP_001394859.1:p.Gln845Ter nonsense NM_001407931.1:c.2533C>T NP_001394860.1:p.Gln845Ter nonsense NM_001407932.1:c.2533C>T NP_001394861.1:p.Gln845Ter nonsense NM_001407933.1:c.2536C>T NP_001394862.1:p.Gln846Ter nonsense NM_001407934.1:c.2533C>T NP_001394863.1:p.Gln845Ter nonsense NM_001407935.1:c.2536C>T NP_001394864.1:p.Gln846Ter nonsense NM_001407936.1:c.2533C>T NP_001394865.1:p.Gln845Ter nonsense NM_001407937.1:c.2677C>T NP_001394866.1:p.Gln893Ter nonsense NM_001407938.1:c.2677C>T NP_001394867.1:p.Gln893Ter nonsense NM_001407939.1:c.2677C>T NP_001394868.1:p.Gln893Ter nonsense NM_001407940.1:c.2674C>T NP_001394869.1:p.Gln892Ter nonsense NM_001407941.1:c.2674C>T NP_001394870.1:p.Gln892Ter nonsense NM_001407942.1:c.2659C>T NP_001394871.1:p.Gln887Ter nonsense NM_001407943.1:c.2656C>T NP_001394872.1:p.Gln886Ter nonsense NM_001407944.1:c.2659C>T NP_001394873.1:p.Gln887Ter nonsense NM_001407945.1:c.2659C>T NP_001394874.1:p.Gln887Ter nonsense NM_001407946.1:c.2467C>T NP_001394875.1:p.Gln823Ter nonsense NM_001407947.1:c.2467C>T NP_001394876.1:p.Gln823Ter nonsense NM_001407948.1:c.2467C>T NP_001394877.1:p.Gln823Ter nonsense NM_001407949.1:c.2467C>T NP_001394878.1:p.Gln823Ter nonsense NM_001407950.1:c.2467C>T NP_001394879.1:p.Gln823Ter nonsense NM_001407951.1:c.2467C>T NP_001394880.1:p.Gln823Ter nonsense NM_001407952.1:c.2467C>T NP_001394881.1:p.Gln823Ter nonsense NM_001407953.1:c.2467C>T NP_001394882.1:p.Gln823Ter nonsense NM_001407954.1:c.2464C>T NP_001394883.1:p.Gln822Ter nonsense NM_001407955.1:c.2464C>T NP_001394884.1:p.Gln822Ter nonsense NM_001407956.1:c.2464C>T NP_001394885.1:p.Gln822Ter nonsense NM_001407957.1:c.2467C>T NP_001394886.1:p.Gln823Ter nonsense NM_001407958.1:c.2464C>T NP_001394887.1:p.Gln822Ter nonsense NM_001407959.1:c.2419C>T NP_001394888.1:p.Gln807Ter nonsense NM_001407960.1:c.2419C>T NP_001394889.1:p.Gln807Ter nonsense NM_001407962.1:c.2416C>T NP_001394891.1:p.Gln806Ter nonsense NM_001407963.1:c.2419C>T NP_001394892.1:p.Gln807Ter nonsense NM_001407964.1:c.2656C>T NP_001394893.1:p.Gln886Ter nonsense NM_001407965.1:c.2296C>T NP_001394894.1:p.Gln766Ter nonsense NM_001407966.1:c.1912C>T NP_001394895.1:p.Gln638Ter nonsense NM_001407967.1:c.1912C>T NP_001394896.1:p.Gln638Ter nonsense NM_001407968.1:c.788-592C>T intron variant NM_001407969.1:c.788-592C>T intron variant NM_001407970.1:c.788-1699C>T intron variant NM_001407971.1:c.788-1699C>T intron variant NM_001407972.1:c.785-1699C>T intron variant NM_001407973.1:c.788-1699C>T intron variant NM_001407974.1:c.788-1699C>T intron variant NM_001407975.1:c.788-1699C>T intron variant NM_001407976.1:c.788-1699C>T intron variant NM_001407977.1:c.788-1699C>T intron variant NM_001407978.1:c.788-1699C>T intron variant NM_001407979.1:c.788-1699C>T intron variant NM_001407980.1:c.788-1699C>T intron variant NM_001407981.1:c.788-1699C>T intron variant NM_001407982.1:c.788-1699C>T intron variant NM_001407983.1:c.788-1699C>T intron variant NM_001407984.1:c.785-1699C>T intron variant NM_001407985.1:c.785-1699C>T intron variant NM_001407986.1:c.785-1699C>T intron variant NM_001407990.1:c.788-1699C>T intron variant NM_001407991.1:c.785-1699C>T intron variant NM_001407992.1:c.785-1699C>T intron variant NM_001407993.1:c.788-1699C>T intron variant NM_001408392.1:c.785-1699C>T intron variant NM_001408396.1:c.785-1699C>T intron variant NM_001408397.1:c.785-1699C>T intron variant NM_001408398.1:c.785-1699C>T intron variant NM_001408399.1:c.785-1699C>T intron variant NM_001408400.1:c.785-1699C>T intron variant NM_001408401.1:c.785-1699C>T intron variant NM_001408402.1:c.785-1699C>T intron variant NM_001408403.1:c.788-1699C>T intron variant NM_001408404.1:c.788-1699C>T intron variant NM_001408406.1:c.791-1708C>T intron variant NM_001408407.1:c.785-1699C>T intron variant NM_001408408.1:c.779-1699C>T intron variant NM_001408409.1:c.710-1699C>T intron variant NM_001408410.1:c.647-1699C>T intron variant NM_001408411.1:c.710-1699C>T intron variant NM_001408412.1:c.710-1699C>T intron variant NM_001408413.1:c.707-1699C>T intron variant NM_001408414.1:c.710-1699C>T intron variant NM_001408415.1:c.710-1699C>T intron variant NM_001408416.1:c.707-1699C>T intron variant NM_001408418.1:c.671-1699C>T intron variant NM_001408419.1:c.671-1699C>T intron variant NM_001408420.1:c.671-1699C>T intron variant NM_001408421.1:c.668-1699C>T intron variant NM_001408422.1:c.671-1699C>T intron variant NM_001408423.1:c.671-1699C>T intron variant NM_001408424.1:c.668-1699C>T intron variant NM_001408425.1:c.665-1699C>T intron variant NM_001408426.1:c.665-1699C>T intron variant NM_001408427.1:c.665-1699C>T intron variant NM_001408428.1:c.665-1699C>T intron variant NM_001408429.1:c.665-1699C>T intron variant NM_001408430.1:c.665-1699C>T intron variant NM_001408431.1:c.668-1699C>T intron variant NM_001408432.1:c.662-1699C>T intron variant NM_001408433.1:c.662-1699C>T intron variant NM_001408434.1:c.662-1699C>T intron variant NM_001408435.1:c.662-1699C>T intron variant NM_001408436.1:c.665-1699C>T intron variant NM_001408437.1:c.665-1699C>T intron variant NM_001408438.1:c.665-1699C>T intron variant NM_001408439.1:c.665-1699C>T intron variant NM_001408440.1:c.665-1699C>T intron variant NM_001408441.1:c.665-1699C>T intron variant NM_001408442.1:c.665-1699C>T intron variant NM_001408443.1:c.665-1699C>T intron variant NM_001408444.1:c.665-1699C>T intron variant NM_001408445.1:c.662-1699C>T intron variant NM_001408446.1:c.662-1699C>T intron variant NM_001408447.1:c.662-1699C>T intron variant NM_001408448.1:c.662-1699C>T intron variant NM_001408450.1:c.662-1699C>T intron variant NM_001408451.1:c.653-1699C>T intron variant NM_001408452.1:c.647-1699C>T intron variant NM_001408453.1:c.647-1699C>T intron variant NM_001408454.1:c.647-1699C>T intron variant NM_001408455.1:c.647-1699C>T intron variant NM_001408456.1:c.647-1699C>T intron variant NM_001408457.1:c.647-1699C>T intron variant NM_001408458.1:c.647-1699C>T intron variant NM_001408459.1:c.647-1699C>T intron variant NM_001408460.1:c.647-1699C>T intron variant NM_001408461.1:c.647-1699C>T intron variant NM_001408462.1:c.644-1699C>T intron variant NM_001408463.1:c.644-1699C>T intron variant NM_001408464.1:c.644-1699C>T intron variant NM_001408465.1:c.644-1699C>T intron variant NM_001408466.1:c.647-1699C>T intron variant NM_001408467.1:c.647-1699C>T intron variant NM_001408468.1:c.644-1699C>T intron variant NM_001408469.1:c.647-1699C>T intron variant NM_001408470.1:c.644-1699C>T intron variant NM_001408472.1:c.788-1699C>T intron variant NM_001408473.1:c.785-1699C>T intron variant NM_001408474.1:c.587-1699C>T intron variant NM_001408475.1:c.584-1699C>T intron variant NM_001408476.1:c.587-1699C>T intron variant NM_001408478.1:c.578-1699C>T intron variant NM_001408479.1:c.578-1699C>T intron variant NM_001408480.1:c.578-1699C>T intron variant NM_001408481.1:c.578-1699C>T intron variant NM_001408482.1:c.578-1699C>T intron variant NM_001408483.1:c.578-1699C>T intron variant NM_001408484.1:c.578-1699C>T intron variant NM_001408485.1:c.578-1699C>T intron variant NM_001408489.1:c.578-1699C>T intron variant NM_001408490.1:c.575-1699C>T intron variant NM_001408491.1:c.575-1699C>T intron variant NM_001408492.1:c.578-1699C>T intron variant NM_001408493.1:c.575-1699C>T intron variant NM_001408494.1:c.548-1699C>T intron variant NM_001408495.1:c.545-1699C>T intron variant NM_001408496.1:c.524-1699C>T intron variant NM_001408497.1:c.524-1699C>T intron variant NM_001408498.1:c.524-1699C>T intron variant NM_001408499.1:c.524-1699C>T intron variant NM_001408500.1:c.524-1699C>T intron variant NM_001408501.1:c.524-1699C>T intron variant NM_001408502.1:c.455-1699C>T intron variant NM_001408503.1:c.521-1699C>T intron variant NM_001408504.1:c.521-1699C>T intron variant NM_001408505.1:c.521-1699C>T intron variant NM_001408506.1:c.461-1699C>T intron variant NM_001408507.1:c.461-1699C>T intron variant NM_001408508.1:c.452-1699C>T intron variant NM_001408509.1:c.452-1699C>T intron variant NM_001408510.1:c.407-1699C>T intron variant NM_001408511.1:c.404-1699C>T intron variant NM_001408512.1:c.284-1699C>T intron variant NM_001408513.1:c.578-1699C>T intron variant NM_001408514.1:c.578-1699C>T intron variant NM_007297.4:c.2659C>T NP_009228.2:p.Gln887Ter nonsense NM_007298.4:c.788-1699C>T intron variant NM_007299.4:c.788-1699C>T intron variant NM_007300.4:c.2800C>T NP_009231.2:p.Gln934Ter nonsense NR_027676.1:n.2936C>T NC_000017.11:g.43092731G>A NC_000017.10:g.41244748G>A NG_005905.2:g.125253C>T LRG_292:g.125253C>T LRG_292t1:c.2800C>T LRG_292p1:p.Gln934Ter U14680.1:n.2919C>T - Protein change
- Q934*, Q887*, Q807*, Q822*, Q864*, Q867*, Q907*, Q638*, Q823*, Q863*, Q892*, Q766*, Q846*, Q866*, Q893*, Q931*, Q933*, Q806*, Q845*, Q886*, Q908*
- Other names
- 2919C>T
- Canonical SPDI
- NC_000017.11:43092730:G:A
-
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.
-
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 |
12879 | 14664 |
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 (4) |
criteria provided, multiple submitters, no conflicts
|
Oct 4, 2023 | RCV000047973.22 | |
Pathogenic (7) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000077528.19 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Mar 18, 2019 | RCV000236201.14 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
May 16, 2022 | RCV000579514.15 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV001357748.9 | |
Pathogenic (1) |
no assertion criteria provided
|
Sep 12, 2021 | RCV001650886.9 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV003332108.2 |
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
(Apr 22, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000282290.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Sep 21, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744645.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
|
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Pathogenic
(Sep 22, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000292514.10
First in ClinVar: Jul 24, 2016 Last updated: Oct 09, 2016 |
Comment:
This variant is denoted BRCA1 c.2800C>T at the cDNA level and p.Gln934Ter (Q934X) at the protein level. The substitution creates a nonsense variant, which changes … (more)
This variant is denoted BRCA1 c.2800C>T at the cDNA level and p.Gln934Ter (Q934X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also known as BRCA1 2919C>T using alternate nomenclature, has been published as a Japanese pathogenic founder variant and has been observed in several breast and/or ovarian cancer families (Kashima 2000, Sekine 2001, Sugano 2008, Hirotsu 2015, Sakamoto 2016). We consider it to be pathogenic. (less)
|
|
Pathogenic
(Mar 18, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001449961.1
First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020 |
Number of individuals with the variant: 1
|
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Pathogenic
(Dec 15, 2020)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916748.2
First in ClinVar: May 31, 2019 Last updated: Jan 09, 2021 |
Comment:
Variant summary: BRCA1 c.2800C>T (p.Gln934X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.2800C>T (p.Gln934X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251150 control chromosomes (gnomAD). c.2800C>T has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (e.g. Rebbeck_2018) mainly occurring in the Japanese population, where it appeared to be a founder mutation (Sekine_2001). These data indicate that the variant is very likely to be associated with disease. Nine other ClinVar submitters (evaluation after 2014) including an expert panel (ENIGMA) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
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Pathogenic
(Jan 15, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683063.3
First in ClinVar: Feb 19, 2018 Last updated: Jan 15, 2022 |
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
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Pathogenic
(Feb 01, 2022)
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criteria provided, single submitter
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Institute, Aichi Cancer Center
Accession: SCV002503884.1
First in ClinVar: Apr 30, 2022 Last updated: Apr 30, 2022 |
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: East asian
|
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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
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325465.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jul 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV000839266.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
|
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Pathogenic
(Oct 04, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000075986.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln934*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln934*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer and/or ovarian cancer (PMID: 10804288, 11149425, 11595708, 18159056, 19016756, 25802882). It is commonly reported in individuals of Japanese ancestry (PMID: 10804288, 11149425, 11595708, 18159056, 19016756, 25802882). This variant is also known as 2919C>T. ClinVar contains an entry for this variant (Variation ID: 54683). For these reasons, this variant has been classified as Pathogenic. (less)
|
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Pathogenic
(May 16, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001177621.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.Q934* pathogenic mutation (also known as c.2800C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at … (more)
The p.Q934* pathogenic mutation (also known as c.2800C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2800. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This mutation has been described in multiple individuals and families with personal and/or family history consistent with hereditary breast and ovarian cancer syndrome (Ikeda N et al. Int. J. Cancer, 2001 Jan;91:83-8; Sekine M et al. Clin. Cancer Res., 2001 Oct;7:3144-50; John EM et al. JAMA, 2007 Dec;298:2869-76; Sugano K et al. Cancer Sci., 2008 Oct;99:1967-76; Hirotsu Y et al. Mol Genet Genomic Med, 2015 Mar;3:121-9; Hirasawa A et al. Oncotarget. 2017 Dec;8(68):112258-112267; Rebbeck TR et al. Hum. Mutat. 2018 05;39(5):593-620). This alteration has been described as a Japanese founder mutation (Sekine M et al. Clin. Cancer Res., 2001 Oct;7:3144-50; Karami F et al. Biomed Res Int, 2013 Nov;2013:928562). Of note, this alteration is also designated as 2919C>T in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
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Pathogenic
(Dec 13, 2011)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000109329.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline,
unknown
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144550.2
First in ClinVar: Apr 01, 2014 Last updated: Sep 27, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 2
Ethnicity/Population group: Asian
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Turkish
Geographic origin: Australia
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733634.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553310.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Gln934X variant was identified in 18 of 6044 proband chromosomes (frequency: 0.003) from individuals or families with breast and ovarian cancer (Arai 2018, … (more)
The BRCA1 p.Gln934X variant was identified in 18 of 6044 proband chromosomes (frequency: 0.003) from individuals or families with breast and ovarian cancer (Arai 2018, Hirotsu 2014, Ikeda 2001, John 2007, Sekine 2001, Sugano 2008). The variant was also identified in the following databases: dbSNP (ID: rs80357223) as "With Pathogenic allele", ClinVar (7x pathogenic including review by exper panel ENIGMA), Clinvitae (4x pathogenic), LOVD 3.0 (12x), UMD-LSDB (3x causal), BIC Database (4x pathogenic), and ARUP Laboratories (definitely pathogenic). The variant was not identified in GeneInsight-COGR, Cosmic, MutDB, or the Zhejiang Colon Cancer Database. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). This variant has been suggested to be a founder mutation in the Japanese population (Sekine 2001). The c.2800C>T variant leads to a premature stop codon at position 934 which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Sep 12, 2021)
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no assertion criteria provided
Method: clinical testing
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Ovarian carcinoma
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
Accession: SCV001870400.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
Sex: female
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956728.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: research
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Malignant tumor of urinary bladder
Affected status: yes
Allele origin:
somatic
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Laboratory of Urology, Hospital Clinic de Barcelona
Accession: SCV004040522.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Pathogenic
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004244078.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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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
HelpTitle | Author | Journal | Year | Link |
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. | Hirotsu Y | Molecular genetics & genomic medicine | 2015 | PMID: 25802882 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY | Science (New York, N.Y.) | 2015 | PMID: 25525159 |
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. | Karami F | BioMed research international | 2013 | PMID: 24312913 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. | Sugano K | Cancer science | 2008 | PMID: 19016756 |
Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. | John EM | JAMA | 2007 | PMID: 18159056 |
Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. | Sekine M | Clinical cancer research : an official journal of the American Association for Cancer Research | 2001 | PMID: 11595708 |
Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. | Ikeda N | International journal of cancer | 2001 | PMID: 11149425 |
Screening of BRCA1 mutation using immunohistochemical staining with C-terminal and N-terminal antibodies in familial ovarian cancers. | Kashima K | Japanese journal of cancer research : Gann | 2000 | PMID: 10804288 |
Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases. | Yoshikawa K | Clinical cancer research : an official journal of the American Association for Cancer Research | 1999 | PMID: 10389907 |
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Text-mined citations for rs80357223 ...
HelpRecord last updated May 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.