ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2341G>T (p.Glu781Ter)
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.2341G>T (p.Glu781Ter)
Variation ID: 1789877 Accession: VCV001789877.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093190 (GRCh38) [ NCBI UCSC ] 17: 41245207 (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 Nov 29, 2022 May 1, 2024 Dec 19, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2341G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu781Ter nonsense NM_001407571.1:c.2128G>T NP_001394500.1:p.Glu710Ter nonsense NM_001407581.1:c.2341G>T NP_001394510.1:p.Glu781Ter nonsense NM_001407582.1:c.2341G>T NP_001394511.1:p.Glu781Ter nonsense NM_001407583.1:c.2341G>T NP_001394512.1:p.Glu781Ter nonsense NM_001407585.1:c.2341G>T NP_001394514.1:p.Glu781Ter nonsense NM_001407587.1:c.2338G>T NP_001394516.1:p.Glu780Ter nonsense NM_001407590.1:c.2338G>T NP_001394519.1:p.Glu780Ter nonsense NM_001407591.1:c.2338G>T NP_001394520.1:p.Glu780Ter nonsense NM_001407593.1:c.2341G>T NP_001394522.1:p.Glu781Ter nonsense NM_001407594.1:c.2341G>T NP_001394523.1:p.Glu781Ter nonsense NM_001407596.1:c.2341G>T NP_001394525.1:p.Glu781Ter nonsense NM_001407597.1:c.2341G>T NP_001394526.1:p.Glu781Ter nonsense NM_001407598.1:c.2341G>T NP_001394527.1:p.Glu781Ter nonsense NM_001407602.1:c.2341G>T NP_001394531.1:p.Glu781Ter nonsense NM_001407603.1:c.2341G>T NP_001394532.1:p.Glu781Ter nonsense NM_001407605.1:c.2341G>T NP_001394534.1:p.Glu781Ter nonsense NM_001407610.1:c.2338G>T NP_001394539.1:p.Glu780Ter nonsense NM_001407611.1:c.2338G>T NP_001394540.1:p.Glu780Ter nonsense NM_001407612.1:c.2338G>T NP_001394541.1:p.Glu780Ter nonsense NM_001407613.1:c.2338G>T NP_001394542.1:p.Glu780Ter nonsense NM_001407614.1:c.2338G>T NP_001394543.1:p.Glu780Ter nonsense NM_001407615.1:c.2338G>T NP_001394544.1:p.Glu780Ter nonsense NM_001407616.1:c.2341G>T NP_001394545.1:p.Glu781Ter nonsense NM_001407617.1:c.2341G>T NP_001394546.1:p.Glu781Ter nonsense NM_001407618.1:c.2341G>T NP_001394547.1:p.Glu781Ter nonsense NM_001407619.1:c.2341G>T NP_001394548.1:p.Glu781Ter nonsense NM_001407620.1:c.2341G>T NP_001394549.1:p.Glu781Ter nonsense NM_001407621.1:c.2341G>T NP_001394550.1:p.Glu781Ter nonsense NM_001407622.1:c.2341G>T NP_001394551.1:p.Glu781Ter nonsense NM_001407623.1:c.2341G>T NP_001394552.1:p.Glu781Ter nonsense NM_001407624.1:c.2341G>T NP_001394553.1:p.Glu781Ter nonsense NM_001407625.1:c.2341G>T NP_001394554.1:p.Glu781Ter nonsense NM_001407626.1:c.2341G>T NP_001394555.1:p.Glu781Ter nonsense NM_001407627.1:c.2338G>T NP_001394556.1:p.Glu780Ter nonsense NM_001407628.1:c.2338G>T NP_001394557.1:p.Glu780Ter nonsense NM_001407629.1:c.2338G>T NP_001394558.1:p.Glu780Ter nonsense NM_001407630.1:c.2338G>T NP_001394559.1:p.Glu780Ter nonsense NM_001407631.1:c.2338G>T NP_001394560.1:p.Glu780Ter nonsense NM_001407632.1:c.2338G>T NP_001394561.1:p.Glu780Ter nonsense NM_001407633.1:c.2338G>T NP_001394562.1:p.Glu780Ter nonsense NM_001407634.1:c.2338G>T NP_001394563.1:p.Glu780Ter nonsense NM_001407635.1:c.2338G>T NP_001394564.1:p.Glu780Ter nonsense NM_001407636.1:c.2338G>T NP_001394565.1:p.Glu780Ter nonsense NM_001407637.1:c.2338G>T NP_001394566.1:p.Glu780Ter nonsense NM_001407638.1:c.2338G>T NP_001394567.1:p.Glu780Ter nonsense NM_001407639.1:c.2341G>T NP_001394568.1:p.Glu781Ter nonsense NM_001407640.1:c.2341G>T NP_001394569.1:p.Glu781Ter nonsense NM_001407641.1:c.2341G>T NP_001394570.1:p.Glu781Ter nonsense NM_001407642.1:c.2341G>T NP_001394571.1:p.Glu781Ter nonsense NM_001407644.1:c.2338G>T NP_001394573.1:p.Glu780Ter nonsense NM_001407645.1:c.2338G>T NP_001394574.1:p.Glu780Ter nonsense NM_001407646.1:c.2332G>T NP_001394575.1:p.Glu778Ter nonsense NM_001407647.1:c.2332G>T NP_001394576.1:p.Glu778Ter nonsense NM_001407648.1:c.2218G>T NP_001394577.1:p.Glu740Ter nonsense NM_001407649.1:c.2215G>T NP_001394578.1:p.Glu739Ter nonsense NM_001407652.1:c.2341G>T NP_001394581.1:p.Glu781Ter nonsense NM_001407653.1:c.2263G>T NP_001394582.1:p.Glu755Ter nonsense NM_001407654.1:c.2263G>T NP_001394583.1:p.Glu755Ter nonsense NM_001407655.1:c.2263G>T NP_001394584.1:p.Glu755Ter nonsense NM_001407656.1:c.2263G>T NP_001394585.1:p.Glu755Ter nonsense NM_001407657.1:c.2263G>T NP_001394586.1:p.Glu755Ter nonsense NM_001407658.1:c.2263G>T NP_001394587.1:p.Glu755Ter nonsense NM_001407659.1:c.2260G>T NP_001394588.1:p.Glu754Ter nonsense NM_001407660.1:c.2260G>T NP_001394589.1:p.Glu754Ter nonsense NM_001407661.1:c.2260G>T NP_001394590.1:p.Glu754Ter nonsense NM_001407662.1:c.2260G>T NP_001394591.1:p.Glu754Ter nonsense NM_001407663.1:c.2263G>T NP_001394592.1:p.Glu755Ter nonsense NM_001407664.1:c.2218G>T NP_001394593.1:p.Glu740Ter nonsense NM_001407665.1:c.2218G>T NP_001394594.1:p.Glu740Ter nonsense NM_001407666.1:c.2218G>T NP_001394595.1:p.Glu740Ter nonsense NM_001407667.1:c.2218G>T NP_001394596.1:p.Glu740Ter nonsense NM_001407668.1:c.2218G>T NP_001394597.1:p.Glu740Ter nonsense NM_001407669.1:c.2218G>T NP_001394598.1:p.Glu740Ter nonsense NM_001407670.1:c.2215G>T NP_001394599.1:p.Glu739Ter nonsense NM_001407671.1:c.2215G>T NP_001394600.1:p.Glu739Ter nonsense NM_001407672.1:c.2215G>T NP_001394601.1:p.Glu739Ter nonsense NM_001407673.1:c.2215G>T NP_001394602.1:p.Glu739Ter nonsense NM_001407674.1:c.2218G>T NP_001394603.1:p.Glu740Ter nonsense NM_001407675.1:c.2218G>T NP_001394604.1:p.Glu740Ter nonsense NM_001407676.1:c.2218G>T NP_001394605.1:p.Glu740Ter nonsense NM_001407677.1:c.2218G>T NP_001394606.1:p.Glu740Ter nonsense NM_001407678.1:c.2218G>T NP_001394607.1:p.Glu740Ter nonsense NM_001407679.1:c.2218G>T NP_001394608.1:p.Glu740Ter nonsense NM_001407680.1:c.2218G>T NP_001394609.1:p.Glu740Ter nonsense NM_001407681.1:c.2218G>T NP_001394610.1:p.Glu740Ter nonsense NM_001407682.1:c.2218G>T NP_001394611.1:p.Glu740Ter nonsense NM_001407683.1:c.2218G>T NP_001394612.1:p.Glu740Ter nonsense NM_001407684.1:c.2341G>T NP_001394613.1:p.Glu781Ter nonsense NM_001407685.1:c.2215G>T NP_001394614.1:p.Glu739Ter nonsense NM_001407686.1:c.2215G>T NP_001394615.1:p.Glu739Ter nonsense NM_001407687.1:c.2215G>T NP_001394616.1:p.Glu739Ter nonsense NM_001407688.1:c.2215G>T NP_001394617.1:p.Glu739Ter nonsense NM_001407689.1:c.2215G>T NP_001394618.1:p.Glu739Ter nonsense NM_001407690.1:c.2215G>T NP_001394619.1:p.Glu739Ter nonsense NM_001407691.1:c.2215G>T NP_001394620.1:p.Glu739Ter nonsense NM_001407692.1:c.2200G>T NP_001394621.1:p.Glu734Ter nonsense NM_001407694.1:c.2200G>T NP_001394623.1:p.Glu734Ter nonsense NM_001407695.1:c.2200G>T NP_001394624.1:p.Glu734Ter nonsense NM_001407696.1:c.2200G>T NP_001394625.1:p.Glu734Ter nonsense NM_001407697.1:c.2200G>T NP_001394626.1:p.Glu734Ter nonsense NM_001407698.1:c.2200G>T NP_001394627.1:p.Glu734Ter nonsense NM_001407724.1:c.2200G>T NP_001394653.1:p.Glu734Ter nonsense NM_001407725.1:c.2200G>T NP_001394654.1:p.Glu734Ter nonsense NM_001407726.1:c.2200G>T NP_001394655.1:p.Glu734Ter nonsense NM_001407727.1:c.2200G>T NP_001394656.1:p.Glu734Ter nonsense NM_001407728.1:c.2200G>T NP_001394657.1:p.Glu734Ter nonsense NM_001407729.1:c.2200G>T NP_001394658.1:p.Glu734Ter nonsense NM_001407730.1:c.2200G>T NP_001394659.1:p.Glu734Ter nonsense NM_001407731.1:c.2200G>T NP_001394660.1:p.Glu734Ter nonsense NM_001407732.1:c.2200G>T NP_001394661.1:p.Glu734Ter nonsense NM_001407733.1:c.2200G>T NP_001394662.1:p.Glu734Ter nonsense NM_001407734.1:c.2200G>T NP_001394663.1:p.Glu734Ter nonsense NM_001407735.1:c.2200G>T NP_001394664.1:p.Glu734Ter nonsense NM_001407736.1:c.2200G>T NP_001394665.1:p.Glu734Ter nonsense NM_001407737.1:c.2200G>T NP_001394666.1:p.Glu734Ter nonsense NM_001407738.1:c.2200G>T NP_001394667.1:p.Glu734Ter nonsense NM_001407739.1:c.2200G>T NP_001394668.1:p.Glu734Ter nonsense NM_001407740.1:c.2197G>T NP_001394669.1:p.Glu733Ter nonsense NM_001407741.1:c.2197G>T NP_001394670.1:p.Glu733Ter nonsense NM_001407742.1:c.2197G>T NP_001394671.1:p.Glu733Ter nonsense NM_001407743.1:c.2197G>T NP_001394672.1:p.Glu733Ter nonsense NM_001407744.1:c.2197G>T NP_001394673.1:p.Glu733Ter nonsense NM_001407745.1:c.2197G>T NP_001394674.1:p.Glu733Ter nonsense NM_001407746.1:c.2197G>T NP_001394675.1:p.Glu733Ter nonsense NM_001407747.1:c.2197G>T NP_001394676.1:p.Glu733Ter nonsense NM_001407748.1:c.2197G>T NP_001394677.1:p.Glu733Ter nonsense NM_001407749.1:c.2197G>T NP_001394678.1:p.Glu733Ter nonsense NM_001407750.1:c.2200G>T NP_001394679.1:p.Glu734Ter nonsense NM_001407751.1:c.2200G>T NP_001394680.1:p.Glu734Ter nonsense NM_001407752.1:c.2200G>T NP_001394681.1:p.Glu734Ter nonsense NM_001407838.1:c.2197G>T NP_001394767.1:p.Glu733Ter nonsense NM_001407839.1:c.2197G>T NP_001394768.1:p.Glu733Ter nonsense NM_001407841.1:c.2197G>T NP_001394770.1:p.Glu733Ter nonsense NM_001407842.1:c.2197G>T NP_001394771.1:p.Glu733Ter nonsense NM_001407843.1:c.2197G>T NP_001394772.1:p.Glu733Ter nonsense NM_001407844.1:c.2197G>T NP_001394773.1:p.Glu733Ter nonsense NM_001407845.1:c.2197G>T NP_001394774.1:p.Glu733Ter nonsense NM_001407846.1:c.2197G>T NP_001394775.1:p.Glu733Ter nonsense NM_001407847.1:c.2197G>T NP_001394776.1:p.Glu733Ter nonsense NM_001407848.1:c.2197G>T NP_001394777.1:p.Glu733Ter nonsense NM_001407849.1:c.2197G>T NP_001394778.1:p.Glu733Ter nonsense NM_001407850.1:c.2200G>T NP_001394779.1:p.Glu734Ter nonsense NM_001407851.1:c.2200G>T NP_001394780.1:p.Glu734Ter nonsense NM_001407852.1:c.2200G>T NP_001394781.1:p.Glu734Ter nonsense NM_001407853.1:c.2128G>T NP_001394782.1:p.Glu710Ter nonsense NM_001407854.1:c.2341G>T NP_001394783.1:p.Glu781Ter nonsense NM_001407858.1:c.2341G>T NP_001394787.1:p.Glu781Ter nonsense NM_001407859.1:c.2341G>T NP_001394788.1:p.Glu781Ter nonsense NM_001407860.1:c.2338G>T NP_001394789.1:p.Glu780Ter nonsense NM_001407861.1:c.2338G>T NP_001394790.1:p.Glu780Ter nonsense NM_001407862.1:c.2140G>T NP_001394791.1:p.Glu714Ter nonsense NM_001407863.1:c.2218G>T NP_001394792.1:p.Glu740Ter nonsense NM_001407874.1:c.2137G>T NP_001394803.1:p.Glu713Ter nonsense NM_001407875.1:c.2137G>T NP_001394804.1:p.Glu713Ter nonsense NM_001407879.1:c.2131G>T NP_001394808.1:p.Glu711Ter nonsense NM_001407881.1:c.2131G>T NP_001394810.1:p.Glu711Ter nonsense NM_001407882.1:c.2131G>T NP_001394811.1:p.Glu711Ter nonsense NM_001407884.1:c.2131G>T NP_001394813.1:p.Glu711Ter nonsense NM_001407885.1:c.2131G>T NP_001394814.1:p.Glu711Ter nonsense NM_001407886.1:c.2131G>T NP_001394815.1:p.Glu711Ter nonsense NM_001407887.1:c.2131G>T NP_001394816.1:p.Glu711Ter nonsense NM_001407889.1:c.2131G>T NP_001394818.1:p.Glu711Ter nonsense NM_001407894.1:c.2128G>T NP_001394823.1:p.Glu710Ter nonsense NM_001407895.1:c.2128G>T NP_001394824.1:p.Glu710Ter nonsense NM_001407896.1:c.2128G>T NP_001394825.1:p.Glu710Ter nonsense NM_001407897.1:c.2128G>T NP_001394826.1:p.Glu710Ter nonsense NM_001407898.1:c.2128G>T NP_001394827.1:p.Glu710Ter nonsense NM_001407899.1:c.2128G>T NP_001394828.1:p.Glu710Ter nonsense NM_001407900.1:c.2131G>T NP_001394829.1:p.Glu711Ter nonsense NM_001407902.1:c.2131G>T NP_001394831.1:p.Glu711Ter nonsense NM_001407904.1:c.2131G>T NP_001394833.1:p.Glu711Ter nonsense NM_001407906.1:c.2131G>T NP_001394835.1:p.Glu711Ter nonsense NM_001407907.1:c.2131G>T NP_001394836.1:p.Glu711Ter nonsense NM_001407908.1:c.2131G>T NP_001394837.1:p.Glu711Ter nonsense NM_001407909.1:c.2131G>T NP_001394838.1:p.Glu711Ter nonsense NM_001407910.1:c.2131G>T NP_001394839.1:p.Glu711Ter nonsense NM_001407915.1:c.2128G>T NP_001394844.1:p.Glu710Ter nonsense NM_001407916.1:c.2128G>T NP_001394845.1:p.Glu710Ter nonsense NM_001407917.1:c.2128G>T NP_001394846.1:p.Glu710Ter nonsense NM_001407918.1:c.2128G>T NP_001394847.1:p.Glu710Ter nonsense NM_001407919.1:c.2218G>T NP_001394848.1:p.Glu740Ter nonsense NM_001407920.1:c.2077G>T NP_001394849.1:p.Glu693Ter nonsense NM_001407921.1:c.2077G>T NP_001394850.1:p.Glu693Ter nonsense NM_001407922.1:c.2077G>T NP_001394851.1:p.Glu693Ter nonsense NM_001407923.1:c.2077G>T NP_001394852.1:p.Glu693Ter nonsense NM_001407924.1:c.2077G>T NP_001394853.1:p.Glu693Ter nonsense NM_001407925.1:c.2077G>T NP_001394854.1:p.Glu693Ter nonsense NM_001407926.1:c.2077G>T NP_001394855.1:p.Glu693Ter nonsense NM_001407927.1:c.2077G>T NP_001394856.1:p.Glu693Ter nonsense NM_001407928.1:c.2077G>T NP_001394857.1:p.Glu693Ter nonsense NM_001407929.1:c.2077G>T NP_001394858.1:p.Glu693Ter nonsense NM_001407930.1:c.2074G>T NP_001394859.1:p.Glu692Ter nonsense NM_001407931.1:c.2074G>T NP_001394860.1:p.Glu692Ter nonsense NM_001407932.1:c.2074G>T NP_001394861.1:p.Glu692Ter nonsense NM_001407933.1:c.2077G>T NP_001394862.1:p.Glu693Ter nonsense NM_001407934.1:c.2074G>T NP_001394863.1:p.Glu692Ter nonsense NM_001407935.1:c.2077G>T NP_001394864.1:p.Glu693Ter nonsense NM_001407936.1:c.2074G>T NP_001394865.1:p.Glu692Ter nonsense NM_001407937.1:c.2218G>T NP_001394866.1:p.Glu740Ter nonsense NM_001407938.1:c.2218G>T NP_001394867.1:p.Glu740Ter nonsense NM_001407939.1:c.2218G>T NP_001394868.1:p.Glu740Ter nonsense NM_001407940.1:c.2215G>T NP_001394869.1:p.Glu739Ter nonsense NM_001407941.1:c.2215G>T NP_001394870.1:p.Glu739Ter nonsense NM_001407942.1:c.2200G>T NP_001394871.1:p.Glu734Ter nonsense NM_001407943.1:c.2197G>T NP_001394872.1:p.Glu733Ter nonsense NM_001407944.1:c.2200G>T NP_001394873.1:p.Glu734Ter nonsense NM_001407945.1:c.2200G>T NP_001394874.1:p.Glu734Ter nonsense NM_001407946.1:c.2008G>T NP_001394875.1:p.Glu670Ter nonsense NM_001407947.1:c.2008G>T NP_001394876.1:p.Glu670Ter nonsense NM_001407948.1:c.2008G>T NP_001394877.1:p.Glu670Ter nonsense NM_001407949.1:c.2008G>T NP_001394878.1:p.Glu670Ter nonsense NM_001407950.1:c.2008G>T NP_001394879.1:p.Glu670Ter nonsense NM_001407951.1:c.2008G>T NP_001394880.1:p.Glu670Ter nonsense NM_001407952.1:c.2008G>T NP_001394881.1:p.Glu670Ter nonsense NM_001407953.1:c.2008G>T NP_001394882.1:p.Glu670Ter nonsense NM_001407954.1:c.2005G>T NP_001394883.1:p.Glu669Ter nonsense NM_001407955.1:c.2005G>T NP_001394884.1:p.Glu669Ter nonsense NM_001407956.1:c.2005G>T NP_001394885.1:p.Glu669Ter nonsense NM_001407957.1:c.2008G>T NP_001394886.1:p.Glu670Ter nonsense NM_001407958.1:c.2005G>T NP_001394887.1:p.Glu669Ter nonsense NM_001407959.1:c.1960G>T NP_001394888.1:p.Glu654Ter nonsense NM_001407960.1:c.1960G>T NP_001394889.1:p.Glu654Ter nonsense NM_001407962.1:c.1957G>T NP_001394891.1:p.Glu653Ter nonsense NM_001407963.1:c.1960G>T NP_001394892.1:p.Glu654Ter nonsense NM_001407964.1:c.2197G>T NP_001394893.1:p.Glu733Ter nonsense NM_001407965.1:c.1837G>T NP_001394894.1:p.Glu613Ter nonsense NM_001407966.1:c.1453G>T NP_001394895.1:p.Glu485Ter nonsense NM_001407967.1:c.1453G>T NP_001394896.1:p.Glu485Ter nonsense NM_001407968.1:c.788-1051G>T intron variant NM_001407969.1:c.788-1051G>T intron variant NM_001407970.1:c.787+1554G>T intron variant NM_001407971.1:c.787+1554G>T intron variant NM_001407972.1:c.784+1554G>T intron variant NM_001407973.1:c.787+1554G>T intron variant NM_001407974.1:c.787+1554G>T intron variant NM_001407975.1:c.787+1554G>T intron variant NM_001407976.1:c.787+1554G>T intron variant NM_001407977.1:c.787+1554G>T intron variant NM_001407978.1:c.787+1554G>T intron variant NM_001407979.1:c.787+1554G>T intron variant NM_001407980.1:c.787+1554G>T intron variant NM_001407981.1:c.787+1554G>T intron variant NM_001407982.1:c.787+1554G>T intron variant NM_001407983.1:c.787+1554G>T intron variant NM_001407984.1:c.784+1554G>T intron variant NM_001407985.1:c.784+1554G>T intron variant NM_001407986.1:c.784+1554G>T intron variant NM_001407990.1:c.787+1554G>T intron variant NM_001407991.1:c.784+1554G>T intron variant NM_001407992.1:c.784+1554G>T intron variant NM_001407993.1:c.787+1554G>T intron variant NM_001408392.1:c.784+1554G>T intron variant NM_001408396.1:c.784+1554G>T intron variant NM_001408397.1:c.784+1554G>T intron variant NM_001408398.1:c.784+1554G>T intron variant NM_001408399.1:c.784+1554G>T intron variant NM_001408400.1:c.784+1554G>T intron variant NM_001408401.1:c.784+1554G>T intron variant NM_001408402.1:c.784+1554G>T intron variant NM_001408403.1:c.787+1554G>T intron variant NM_001408404.1:c.787+1554G>T intron variant NM_001408406.1:c.790+1551G>T intron variant NM_001408407.1:c.784+1554G>T intron variant NM_001408408.1:c.778+1554G>T intron variant NM_001408409.1:c.709+1554G>T intron variant NM_001408410.1:c.646+1554G>T intron variant NM_001408411.1:c.709+1554G>T intron variant NM_001408412.1:c.709+1554G>T intron variant NM_001408413.1:c.706+1554G>T intron variant NM_001408414.1:c.709+1554G>T intron variant NM_001408415.1:c.709+1554G>T intron variant NM_001408416.1:c.706+1554G>T intron variant NM_001408418.1:c.671-2158G>T intron variant NM_001408419.1:c.671-2158G>T intron variant NM_001408420.1:c.671-2158G>T intron variant NM_001408421.1:c.668-2158G>T intron variant NM_001408422.1:c.671-2158G>T intron variant NM_001408423.1:c.671-2158G>T intron variant NM_001408424.1:c.668-2158G>T intron variant NM_001408425.1:c.664+1554G>T intron variant NM_001408426.1:c.664+1554G>T intron variant NM_001408427.1:c.664+1554G>T intron variant NM_001408428.1:c.664+1554G>T intron variant NM_001408429.1:c.664+1554G>T intron variant NM_001408430.1:c.664+1554G>T intron variant NM_001408431.1:c.668-2158G>T intron variant NM_001408432.1:c.661+1554G>T intron variant NM_001408433.1:c.661+1554G>T intron variant NM_001408434.1:c.661+1554G>T intron variant NM_001408435.1:c.661+1554G>T intron variant NM_001408436.1:c.664+1554G>T intron variant NM_001408437.1:c.664+1554G>T intron variant NM_001408438.1:c.664+1554G>T intron variant NM_001408439.1:c.664+1554G>T intron variant NM_001408440.1:c.664+1554G>T intron variant NM_001408441.1:c.664+1554G>T intron variant NM_001408442.1:c.664+1554G>T intron variant NM_001408443.1:c.664+1554G>T intron variant NM_001408444.1:c.664+1554G>T intron variant NM_001408445.1:c.661+1554G>T intron variant NM_001408446.1:c.661+1554G>T intron variant NM_001408447.1:c.661+1554G>T intron variant NM_001408448.1:c.661+1554G>T intron variant NM_001408450.1:c.661+1554G>T intron variant NM_001408451.1:c.652+1554G>T intron variant NM_001408452.1:c.646+1554G>T intron variant NM_001408453.1:c.646+1554G>T intron variant NM_001408454.1:c.646+1554G>T intron variant NM_001408455.1:c.646+1554G>T intron variant NM_001408456.1:c.646+1554G>T intron variant NM_001408457.1:c.646+1554G>T intron variant NM_001408458.1:c.646+1554G>T intron variant NM_001408459.1:c.646+1554G>T intron variant NM_001408460.1:c.646+1554G>T intron variant NM_001408461.1:c.646+1554G>T intron variant NM_001408462.1:c.643+1554G>T intron variant NM_001408463.1:c.643+1554G>T intron variant NM_001408464.1:c.643+1554G>T intron variant NM_001408465.1:c.643+1554G>T intron variant NM_001408466.1:c.646+1554G>T intron variant NM_001408467.1:c.646+1554G>T intron variant NM_001408468.1:c.643+1554G>T intron variant NM_001408469.1:c.646+1554G>T intron variant NM_001408470.1:c.643+1554G>T intron variant NM_001408472.1:c.787+1554G>T intron variant NM_001408473.1:c.784+1554G>T intron variant NM_001408474.1:c.586+1554G>T intron variant NM_001408475.1:c.583+1554G>T intron variant NM_001408476.1:c.586+1554G>T intron variant NM_001408478.1:c.577+1554G>T intron variant NM_001408479.1:c.577+1554G>T intron variant NM_001408480.1:c.577+1554G>T intron variant NM_001408481.1:c.577+1554G>T intron variant NM_001408482.1:c.577+1554G>T intron variant NM_001408483.1:c.577+1554G>T intron variant NM_001408484.1:c.577+1554G>T intron variant NM_001408485.1:c.577+1554G>T intron variant NM_001408489.1:c.577+1554G>T intron variant NM_001408490.1:c.574+1554G>T intron variant NM_001408491.1:c.574+1554G>T intron variant NM_001408492.1:c.577+1554G>T intron variant NM_001408493.1:c.574+1554G>T intron variant NM_001408494.1:c.548-2158G>T intron variant NM_001408495.1:c.545-2158G>T intron variant NM_001408496.1:c.523+1554G>T intron variant NM_001408497.1:c.523+1554G>T intron variant NM_001408498.1:c.523+1554G>T intron variant NM_001408499.1:c.523+1554G>T intron variant NM_001408500.1:c.523+1554G>T intron variant NM_001408501.1:c.523+1554G>T intron variant NM_001408502.1:c.454+1554G>T intron variant NM_001408503.1:c.520+1554G>T intron variant NM_001408504.1:c.520+1554G>T intron variant NM_001408505.1:c.520+1554G>T intron variant NM_001408506.1:c.461-2158G>T intron variant NM_001408507.1:c.461-2158G>T intron variant NM_001408508.1:c.451+1554G>T intron variant NM_001408509.1:c.451+1554G>T intron variant NM_001408510.1:c.406+1554G>T intron variant NM_001408511.1:c.404-2158G>T intron variant NM_001408512.1:c.283+1554G>T intron variant NM_001408513.1:c.577+1554G>T intron variant NM_001408514.1:c.577+1554G>T intron variant NM_007297.4:c.2200G>T NP_009228.2:p.Glu734Ter nonsense NM_007298.4:c.787+1554G>T intron variant NM_007299.4:c.787+1554G>T intron variant NM_007300.4:c.2341G>T NP_009231.2:p.Glu781Ter nonsense NR_027676.1:n.2477G>T NC_000017.11:g.43093190C>A NC_000017.10:g.41245207C>A NG_005905.2:g.124794G>T LRG_292:g.124794G>T LRG_292t1:c.2341G>T LRG_292p1:p.Glu781Ter - Protein change
- E613*, E654*, E714*, E781*, E670*, E692*, E739*, E740*, E754*, E755*, E485*, E653*, E669*, E710*, E711*, E713*, E778*, E693*, E733*, E734*, E780*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093189:C:A
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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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- 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. |
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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. |
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Pathogenic (1) |
criteria provided, single submitter
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Oct 11, 2022 | RCV002428522.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 19, 2022 | RCV002509841.1 |
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
(Dec 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002819673.1
First in ClinVar: Jan 15, 2023 Last updated: Jan 15, 2023 |
Comment:
Variant summary: BRCA1 c.2341G>T (p.Glu781X) 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.2341G>T (p.Glu781X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250746 control chromosomes (gnomAD). c.2341G>T has been reported in the literature in individuals affected with Breast cancer (e.g. Zheng_2018, Bang_2022, Zong_2022) and Ovarian cancer (Ji_2021). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Oct 11, 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
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Ambry Genetics
Accession: SCV002731863.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.E781* pathogenic mutation (also known as c.2341G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at … (more)
The p.E781* pathogenic mutation (also known as c.2341G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2341. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration has be identified in multiple breast and/or ovarian cancer patient cohorts (Ji G et al. Ann Transl Med, 2021 Mar;9:453; Bang YJ et al. Cancer Res Treat, 2022 Jul;54:827-833; Zong H et al. J Cancer, 2022 Jan;13:1119-1129). 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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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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Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients. | Zong H | Journal of Cancer | 2022 | PMID: 35281878 |
Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients. | Bang YJ | Cancer research and treatment | 2022 | PMID: 34645131 |
Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients. | Ji G | Annals of translational medicine | 2021 | PMID: 33850850 |
Inherited Breast Cancer in Nigerian Women. | Zheng Y | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2018 | PMID: 30130155 |
Text-mined citations for this variant ...
HelpRecord last updated Jun 02, 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.