ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter)
Variation ID: 923489 Accession: VCV000923489.14
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43092326 (GRCh38) [ NCBI UCSC ] 17: 41244343 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 22, 2020 May 1, 2024 Jun 4, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3205C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1069Ter nonsense NM_001407571.1:c.2992C>T NP_001394500.1:p.Gln998Ter nonsense NM_001407581.1:c.3205C>T NP_001394510.1:p.Gln1069Ter nonsense NM_001407582.1:c.3205C>T NP_001394511.1:p.Gln1069Ter nonsense NM_001407583.1:c.3205C>T NP_001394512.1:p.Gln1069Ter nonsense NM_001407585.1:c.3205C>T NP_001394514.1:p.Gln1069Ter nonsense NM_001407587.1:c.3202C>T NP_001394516.1:p.Gln1068Ter nonsense NM_001407590.1:c.3202C>T NP_001394519.1:p.Gln1068Ter nonsense NM_001407591.1:c.3202C>T NP_001394520.1:p.Gln1068Ter nonsense NM_001407593.1:c.3205C>T NP_001394522.1:p.Gln1069Ter nonsense NM_001407594.1:c.3205C>T NP_001394523.1:p.Gln1069Ter nonsense NM_001407596.1:c.3205C>T NP_001394525.1:p.Gln1069Ter nonsense NM_001407597.1:c.3205C>T NP_001394526.1:p.Gln1069Ter nonsense NM_001407598.1:c.3205C>T NP_001394527.1:p.Gln1069Ter nonsense NM_001407602.1:c.3205C>T NP_001394531.1:p.Gln1069Ter nonsense NM_001407603.1:c.3205C>T NP_001394532.1:p.Gln1069Ter nonsense NM_001407605.1:c.3205C>T NP_001394534.1:p.Gln1069Ter nonsense NM_001407610.1:c.3202C>T NP_001394539.1:p.Gln1068Ter nonsense NM_001407611.1:c.3202C>T NP_001394540.1:p.Gln1068Ter nonsense NM_001407612.1:c.3202C>T NP_001394541.1:p.Gln1068Ter nonsense NM_001407613.1:c.3202C>T NP_001394542.1:p.Gln1068Ter nonsense NM_001407614.1:c.3202C>T NP_001394543.1:p.Gln1068Ter nonsense NM_001407615.1:c.3202C>T NP_001394544.1:p.Gln1068Ter nonsense NM_001407616.1:c.3205C>T NP_001394545.1:p.Gln1069Ter nonsense NM_001407617.1:c.3205C>T NP_001394546.1:p.Gln1069Ter nonsense NM_001407618.1:c.3205C>T NP_001394547.1:p.Gln1069Ter nonsense NM_001407619.1:c.3205C>T NP_001394548.1:p.Gln1069Ter nonsense NM_001407620.1:c.3205C>T NP_001394549.1:p.Gln1069Ter nonsense NM_001407621.1:c.3205C>T NP_001394550.1:p.Gln1069Ter nonsense NM_001407622.1:c.3205C>T NP_001394551.1:p.Gln1069Ter nonsense NM_001407623.1:c.3205C>T NP_001394552.1:p.Gln1069Ter nonsense NM_001407624.1:c.3205C>T NP_001394553.1:p.Gln1069Ter nonsense NM_001407625.1:c.3205C>T NP_001394554.1:p.Gln1069Ter nonsense NM_001407626.1:c.3205C>T NP_001394555.1:p.Gln1069Ter nonsense NM_001407627.1:c.3202C>T NP_001394556.1:p.Gln1068Ter nonsense NM_001407628.1:c.3202C>T NP_001394557.1:p.Gln1068Ter nonsense NM_001407629.1:c.3202C>T NP_001394558.1:p.Gln1068Ter nonsense NM_001407630.1:c.3202C>T NP_001394559.1:p.Gln1068Ter nonsense NM_001407631.1:c.3202C>T NP_001394560.1:p.Gln1068Ter nonsense NM_001407632.1:c.3202C>T NP_001394561.1:p.Gln1068Ter nonsense NM_001407633.1:c.3202C>T NP_001394562.1:p.Gln1068Ter nonsense NM_001407634.1:c.3202C>T NP_001394563.1:p.Gln1068Ter nonsense NM_001407635.1:c.3202C>T NP_001394564.1:p.Gln1068Ter nonsense NM_001407636.1:c.3202C>T NP_001394565.1:p.Gln1068Ter nonsense NM_001407637.1:c.3202C>T NP_001394566.1:p.Gln1068Ter nonsense NM_001407638.1:c.3202C>T NP_001394567.1:p.Gln1068Ter nonsense NM_001407639.1:c.3205C>T NP_001394568.1:p.Gln1069Ter nonsense NM_001407640.1:c.3205C>T NP_001394569.1:p.Gln1069Ter nonsense NM_001407641.1:c.3205C>T NP_001394570.1:p.Gln1069Ter nonsense NM_001407642.1:c.3205C>T NP_001394571.1:p.Gln1069Ter nonsense NM_001407644.1:c.3202C>T NP_001394573.1:p.Gln1068Ter nonsense NM_001407645.1:c.3202C>T NP_001394574.1:p.Gln1068Ter nonsense NM_001407646.1:c.3196C>T NP_001394575.1:p.Gln1066Ter nonsense NM_001407647.1:c.3196C>T NP_001394576.1:p.Gln1066Ter nonsense NM_001407648.1:c.3082C>T NP_001394577.1:p.Gln1028Ter nonsense NM_001407649.1:c.3079C>T NP_001394578.1:p.Gln1027Ter nonsense NM_001407652.1:c.3205C>T NP_001394581.1:p.Gln1069Ter nonsense NM_001407653.1:c.3127C>T NP_001394582.1:p.Gln1043Ter nonsense NM_001407654.1:c.3127C>T NP_001394583.1:p.Gln1043Ter nonsense NM_001407655.1:c.3127C>T NP_001394584.1:p.Gln1043Ter nonsense NM_001407656.1:c.3127C>T NP_001394585.1:p.Gln1043Ter nonsense NM_001407657.1:c.3127C>T NP_001394586.1:p.Gln1043Ter nonsense NM_001407658.1:c.3127C>T NP_001394587.1:p.Gln1043Ter nonsense NM_001407659.1:c.3124C>T NP_001394588.1:p.Gln1042Ter nonsense NM_001407660.1:c.3124C>T NP_001394589.1:p.Gln1042Ter nonsense NM_001407661.1:c.3124C>T NP_001394590.1:p.Gln1042Ter nonsense NM_001407662.1:c.3124C>T NP_001394591.1:p.Gln1042Ter nonsense NM_001407663.1:c.3127C>T NP_001394592.1:p.Gln1043Ter nonsense NM_001407664.1:c.3082C>T NP_001394593.1:p.Gln1028Ter nonsense NM_001407665.1:c.3082C>T NP_001394594.1:p.Gln1028Ter nonsense NM_001407666.1:c.3082C>T NP_001394595.1:p.Gln1028Ter nonsense NM_001407667.1:c.3082C>T NP_001394596.1:p.Gln1028Ter nonsense NM_001407668.1:c.3082C>T NP_001394597.1:p.Gln1028Ter nonsense NM_001407669.1:c.3082C>T NP_001394598.1:p.Gln1028Ter nonsense NM_001407670.1:c.3079C>T NP_001394599.1:p.Gln1027Ter nonsense NM_001407671.1:c.3079C>T NP_001394600.1:p.Gln1027Ter nonsense NM_001407672.1:c.3079C>T NP_001394601.1:p.Gln1027Ter nonsense NM_001407673.1:c.3079C>T NP_001394602.1:p.Gln1027Ter nonsense NM_001407674.1:c.3082C>T NP_001394603.1:p.Gln1028Ter nonsense NM_001407675.1:c.3082C>T NP_001394604.1:p.Gln1028Ter nonsense NM_001407676.1:c.3082C>T NP_001394605.1:p.Gln1028Ter nonsense NM_001407677.1:c.3082C>T NP_001394606.1:p.Gln1028Ter nonsense NM_001407678.1:c.3082C>T NP_001394607.1:p.Gln1028Ter nonsense NM_001407679.1:c.3082C>T NP_001394608.1:p.Gln1028Ter nonsense NM_001407680.1:c.3082C>T NP_001394609.1:p.Gln1028Ter nonsense NM_001407681.1:c.3082C>T NP_001394610.1:p.Gln1028Ter nonsense NM_001407682.1:c.3082C>T NP_001394611.1:p.Gln1028Ter nonsense NM_001407683.1:c.3082C>T NP_001394612.1:p.Gln1028Ter nonsense NM_001407684.1:c.3205C>T NP_001394613.1:p.Gln1069Ter nonsense NM_001407685.1:c.3079C>T NP_001394614.1:p.Gln1027Ter nonsense NM_001407686.1:c.3079C>T NP_001394615.1:p.Gln1027Ter nonsense NM_001407687.1:c.3079C>T NP_001394616.1:p.Gln1027Ter nonsense NM_001407688.1:c.3079C>T NP_001394617.1:p.Gln1027Ter nonsense NM_001407689.1:c.3079C>T NP_001394618.1:p.Gln1027Ter nonsense NM_001407690.1:c.3079C>T NP_001394619.1:p.Gln1027Ter nonsense NM_001407691.1:c.3079C>T NP_001394620.1:p.Gln1027Ter nonsense NM_001407692.1:c.3064C>T NP_001394621.1:p.Gln1022Ter nonsense NM_001407694.1:c.3064C>T NP_001394623.1:p.Gln1022Ter nonsense NM_001407695.1:c.3064C>T NP_001394624.1:p.Gln1022Ter nonsense NM_001407696.1:c.3064C>T NP_001394625.1:p.Gln1022Ter nonsense NM_001407697.1:c.3064C>T NP_001394626.1:p.Gln1022Ter nonsense NM_001407698.1:c.3064C>T NP_001394627.1:p.Gln1022Ter nonsense NM_001407724.1:c.3064C>T NP_001394653.1:p.Gln1022Ter nonsense NM_001407725.1:c.3064C>T NP_001394654.1:p.Gln1022Ter nonsense NM_001407726.1:c.3064C>T NP_001394655.1:p.Gln1022Ter nonsense NM_001407727.1:c.3064C>T NP_001394656.1:p.Gln1022Ter nonsense NM_001407728.1:c.3064C>T NP_001394657.1:p.Gln1022Ter nonsense NM_001407729.1:c.3064C>T NP_001394658.1:p.Gln1022Ter nonsense NM_001407730.1:c.3064C>T NP_001394659.1:p.Gln1022Ter nonsense NM_001407731.1:c.3064C>T NP_001394660.1:p.Gln1022Ter nonsense NM_001407732.1:c.3064C>T NP_001394661.1:p.Gln1022Ter nonsense NM_001407733.1:c.3064C>T NP_001394662.1:p.Gln1022Ter nonsense NM_001407734.1:c.3064C>T NP_001394663.1:p.Gln1022Ter nonsense NM_001407735.1:c.3064C>T NP_001394664.1:p.Gln1022Ter nonsense NM_001407736.1:c.3064C>T NP_001394665.1:p.Gln1022Ter nonsense NM_001407737.1:c.3064C>T NP_001394666.1:p.Gln1022Ter nonsense NM_001407738.1:c.3064C>T NP_001394667.1:p.Gln1022Ter nonsense NM_001407739.1:c.3064C>T NP_001394668.1:p.Gln1022Ter nonsense NM_001407740.1:c.3061C>T NP_001394669.1:p.Gln1021Ter nonsense NM_001407741.1:c.3061C>T NP_001394670.1:p.Gln1021Ter nonsense NM_001407742.1:c.3061C>T NP_001394671.1:p.Gln1021Ter nonsense NM_001407743.1:c.3061C>T NP_001394672.1:p.Gln1021Ter nonsense NM_001407744.1:c.3061C>T NP_001394673.1:p.Gln1021Ter nonsense NM_001407745.1:c.3061C>T NP_001394674.1:p.Gln1021Ter nonsense NM_001407746.1:c.3061C>T NP_001394675.1:p.Gln1021Ter nonsense NM_001407747.1:c.3061C>T NP_001394676.1:p.Gln1021Ter nonsense NM_001407748.1:c.3061C>T NP_001394677.1:p.Gln1021Ter nonsense NM_001407749.1:c.3061C>T NP_001394678.1:p.Gln1021Ter nonsense NM_001407750.1:c.3064C>T NP_001394679.1:p.Gln1022Ter nonsense NM_001407751.1:c.3064C>T NP_001394680.1:p.Gln1022Ter nonsense NM_001407752.1:c.3064C>T NP_001394681.1:p.Gln1022Ter nonsense NM_001407838.1:c.3061C>T NP_001394767.1:p.Gln1021Ter nonsense NM_001407839.1:c.3061C>T NP_001394768.1:p.Gln1021Ter nonsense NM_001407841.1:c.3061C>T NP_001394770.1:p.Gln1021Ter nonsense NM_001407842.1:c.3061C>T NP_001394771.1:p.Gln1021Ter nonsense NM_001407843.1:c.3061C>T NP_001394772.1:p.Gln1021Ter nonsense NM_001407844.1:c.3061C>T NP_001394773.1:p.Gln1021Ter nonsense NM_001407845.1:c.3061C>T NP_001394774.1:p.Gln1021Ter nonsense NM_001407846.1:c.3061C>T NP_001394775.1:p.Gln1021Ter nonsense NM_001407847.1:c.3061C>T NP_001394776.1:p.Gln1021Ter nonsense NM_001407848.1:c.3061C>T NP_001394777.1:p.Gln1021Ter nonsense NM_001407849.1:c.3061C>T NP_001394778.1:p.Gln1021Ter nonsense NM_001407850.1:c.3064C>T NP_001394779.1:p.Gln1022Ter nonsense NM_001407851.1:c.3064C>T NP_001394780.1:p.Gln1022Ter nonsense NM_001407852.1:c.3064C>T NP_001394781.1:p.Gln1022Ter nonsense NM_001407853.1:c.2992C>T NP_001394782.1:p.Gln998Ter nonsense NM_001407854.1:c.3205C>T NP_001394783.1:p.Gln1069Ter nonsense NM_001407858.1:c.3205C>T NP_001394787.1:p.Gln1069Ter nonsense NM_001407859.1:c.3205C>T NP_001394788.1:p.Gln1069Ter nonsense NM_001407860.1:c.3202C>T NP_001394789.1:p.Gln1068Ter nonsense NM_001407861.1:c.3202C>T NP_001394790.1:p.Gln1068Ter nonsense NM_001407862.1:c.3004C>T NP_001394791.1:p.Gln1002Ter nonsense NM_001407863.1:c.3082C>T NP_001394792.1:p.Gln1028Ter nonsense NM_001407874.1:c.3001C>T NP_001394803.1:p.Gln1001Ter nonsense NM_001407875.1:c.3001C>T NP_001394804.1:p.Gln1001Ter nonsense NM_001407879.1:c.2995C>T NP_001394808.1:p.Gln999Ter nonsense NM_001407881.1:c.2995C>T NP_001394810.1:p.Gln999Ter nonsense NM_001407882.1:c.2995C>T NP_001394811.1:p.Gln999Ter nonsense NM_001407884.1:c.2995C>T NP_001394813.1:p.Gln999Ter nonsense NM_001407885.1:c.2995C>T NP_001394814.1:p.Gln999Ter nonsense NM_001407886.1:c.2995C>T NP_001394815.1:p.Gln999Ter nonsense NM_001407887.1:c.2995C>T NP_001394816.1:p.Gln999Ter nonsense NM_001407889.1:c.2995C>T NP_001394818.1:p.Gln999Ter nonsense NM_001407894.1:c.2992C>T NP_001394823.1:p.Gln998Ter nonsense NM_001407895.1:c.2992C>T NP_001394824.1:p.Gln998Ter nonsense NM_001407896.1:c.2992C>T NP_001394825.1:p.Gln998Ter nonsense NM_001407897.1:c.2992C>T NP_001394826.1:p.Gln998Ter nonsense NM_001407898.1:c.2992C>T NP_001394827.1:p.Gln998Ter nonsense NM_001407899.1:c.2992C>T NP_001394828.1:p.Gln998Ter nonsense NM_001407900.1:c.2995C>T NP_001394829.1:p.Gln999Ter nonsense NM_001407902.1:c.2995C>T NP_001394831.1:p.Gln999Ter nonsense NM_001407904.1:c.2995C>T NP_001394833.1:p.Gln999Ter nonsense NM_001407906.1:c.2995C>T NP_001394835.1:p.Gln999Ter nonsense NM_001407907.1:c.2995C>T NP_001394836.1:p.Gln999Ter nonsense NM_001407908.1:c.2995C>T NP_001394837.1:p.Gln999Ter nonsense NM_001407909.1:c.2995C>T NP_001394838.1:p.Gln999Ter nonsense NM_001407910.1:c.2995C>T NP_001394839.1:p.Gln999Ter nonsense NM_001407915.1:c.2992C>T NP_001394844.1:p.Gln998Ter nonsense NM_001407916.1:c.2992C>T NP_001394845.1:p.Gln998Ter nonsense NM_001407917.1:c.2992C>T NP_001394846.1:p.Gln998Ter nonsense NM_001407918.1:c.2992C>T NP_001394847.1:p.Gln998Ter nonsense NM_001407919.1:c.3082C>T NP_001394848.1:p.Gln1028Ter nonsense NM_001407920.1:c.2941C>T NP_001394849.1:p.Gln981Ter nonsense NM_001407921.1:c.2941C>T NP_001394850.1:p.Gln981Ter nonsense NM_001407922.1:c.2941C>T NP_001394851.1:p.Gln981Ter nonsense NM_001407923.1:c.2941C>T NP_001394852.1:p.Gln981Ter nonsense NM_001407924.1:c.2941C>T NP_001394853.1:p.Gln981Ter nonsense NM_001407925.1:c.2941C>T NP_001394854.1:p.Gln981Ter nonsense NM_001407926.1:c.2941C>T NP_001394855.1:p.Gln981Ter nonsense NM_001407927.1:c.2941C>T NP_001394856.1:p.Gln981Ter nonsense NM_001407928.1:c.2941C>T NP_001394857.1:p.Gln981Ter nonsense NM_001407929.1:c.2941C>T NP_001394858.1:p.Gln981Ter nonsense NM_001407930.1:c.2938C>T NP_001394859.1:p.Gln980Ter nonsense NM_001407931.1:c.2938C>T NP_001394860.1:p.Gln980Ter nonsense NM_001407932.1:c.2938C>T NP_001394861.1:p.Gln980Ter nonsense NM_001407933.1:c.2941C>T NP_001394862.1:p.Gln981Ter nonsense NM_001407934.1:c.2938C>T NP_001394863.1:p.Gln980Ter nonsense NM_001407935.1:c.2941C>T NP_001394864.1:p.Gln981Ter nonsense NM_001407936.1:c.2938C>T NP_001394865.1:p.Gln980Ter nonsense NM_001407937.1:c.3082C>T NP_001394866.1:p.Gln1028Ter nonsense NM_001407938.1:c.3082C>T NP_001394867.1:p.Gln1028Ter nonsense NM_001407939.1:c.3082C>T NP_001394868.1:p.Gln1028Ter nonsense NM_001407940.1:c.3079C>T NP_001394869.1:p.Gln1027Ter nonsense NM_001407941.1:c.3079C>T NP_001394870.1:p.Gln1027Ter nonsense NM_001407942.1:c.3064C>T NP_001394871.1:p.Gln1022Ter nonsense NM_001407943.1:c.3061C>T NP_001394872.1:p.Gln1021Ter nonsense NM_001407944.1:c.3064C>T NP_001394873.1:p.Gln1022Ter nonsense NM_001407945.1:c.3064C>T NP_001394874.1:p.Gln1022Ter nonsense NM_001407946.1:c.2872C>T NP_001394875.1:p.Gln958Ter nonsense NM_001407947.1:c.2872C>T NP_001394876.1:p.Gln958Ter nonsense NM_001407948.1:c.2872C>T NP_001394877.1:p.Gln958Ter nonsense NM_001407949.1:c.2872C>T NP_001394878.1:p.Gln958Ter nonsense NM_001407950.1:c.2872C>T NP_001394879.1:p.Gln958Ter nonsense NM_001407951.1:c.2872C>T NP_001394880.1:p.Gln958Ter nonsense NM_001407952.1:c.2872C>T NP_001394881.1:p.Gln958Ter nonsense NM_001407953.1:c.2872C>T NP_001394882.1:p.Gln958Ter nonsense NM_001407954.1:c.2869C>T NP_001394883.1:p.Gln957Ter nonsense NM_001407955.1:c.2869C>T NP_001394884.1:p.Gln957Ter nonsense NM_001407956.1:c.2869C>T NP_001394885.1:p.Gln957Ter nonsense NM_001407957.1:c.2872C>T NP_001394886.1:p.Gln958Ter nonsense NM_001407958.1:c.2869C>T NP_001394887.1:p.Gln957Ter nonsense NM_001407959.1:c.2824C>T NP_001394888.1:p.Gln942Ter nonsense NM_001407960.1:c.2824C>T NP_001394889.1:p.Gln942Ter nonsense NM_001407962.1:c.2821C>T NP_001394891.1:p.Gln941Ter nonsense NM_001407963.1:c.2824C>T NP_001394892.1:p.Gln942Ter nonsense NM_001407964.1:c.3061C>T NP_001394893.1:p.Gln1021Ter nonsense NM_001407965.1:c.2701C>T NP_001394894.1:p.Gln901Ter nonsense NM_001407966.1:c.2317C>T NP_001394895.1:p.Gln773Ter nonsense NM_001407967.1:c.2317C>T NP_001394896.1:p.Gln773Ter nonsense NM_001407968.1:c.788-187C>T intron variant NM_001407969.1:c.788-187C>T intron variant NM_001407970.1:c.788-1294C>T intron variant NM_001407971.1:c.788-1294C>T intron variant NM_001407972.1:c.785-1294C>T intron variant NM_001407973.1:c.788-1294C>T intron variant NM_001407974.1:c.788-1294C>T intron variant NM_001407975.1:c.788-1294C>T intron variant NM_001407976.1:c.788-1294C>T intron variant NM_001407977.1:c.788-1294C>T intron variant NM_001407978.1:c.788-1294C>T intron variant NM_001407979.1:c.788-1294C>T intron variant NM_001407980.1:c.788-1294C>T intron variant NM_001407981.1:c.788-1294C>T intron variant NM_001407982.1:c.788-1294C>T intron variant NM_001407983.1:c.788-1294C>T intron variant NM_001407984.1:c.785-1294C>T intron variant NM_001407985.1:c.785-1294C>T intron variant NM_001407986.1:c.785-1294C>T intron variant NM_001407990.1:c.788-1294C>T intron variant NM_001407991.1:c.785-1294C>T intron variant NM_001407992.1:c.785-1294C>T intron variant NM_001407993.1:c.788-1294C>T intron variant NM_001408392.1:c.785-1294C>T intron variant NM_001408396.1:c.785-1294C>T intron variant NM_001408397.1:c.785-1294C>T intron variant NM_001408398.1:c.785-1294C>T intron variant NM_001408399.1:c.785-1294C>T intron variant NM_001408400.1:c.785-1294C>T intron variant NM_001408401.1:c.785-1294C>T intron variant NM_001408402.1:c.785-1294C>T intron variant NM_001408403.1:c.788-1294C>T intron variant NM_001408404.1:c.788-1294C>T intron variant NM_001408406.1:c.791-1303C>T intron variant NM_001408407.1:c.785-1294C>T intron variant NM_001408408.1:c.779-1294C>T intron variant NM_001408409.1:c.710-1294C>T intron variant NM_001408410.1:c.647-1294C>T intron variant NM_001408411.1:c.710-1294C>T intron variant NM_001408412.1:c.710-1294C>T intron variant NM_001408413.1:c.707-1294C>T intron variant NM_001408414.1:c.710-1294C>T intron variant NM_001408415.1:c.710-1294C>T intron variant NM_001408416.1:c.707-1294C>T intron variant NM_001408418.1:c.671-1294C>T intron variant NM_001408419.1:c.671-1294C>T intron variant NM_001408420.1:c.671-1294C>T intron variant NM_001408421.1:c.668-1294C>T intron variant NM_001408422.1:c.671-1294C>T intron variant NM_001408423.1:c.671-1294C>T intron variant NM_001408424.1:c.668-1294C>T intron variant NM_001408425.1:c.665-1294C>T intron variant NM_001408426.1:c.665-1294C>T intron variant NM_001408427.1:c.665-1294C>T intron variant NM_001408428.1:c.665-1294C>T intron variant NM_001408429.1:c.665-1294C>T intron variant NM_001408430.1:c.665-1294C>T intron variant NM_001408431.1:c.668-1294C>T intron variant NM_001408432.1:c.662-1294C>T intron variant NM_001408433.1:c.662-1294C>T intron variant NM_001408434.1:c.662-1294C>T intron variant NM_001408435.1:c.662-1294C>T intron variant NM_001408436.1:c.665-1294C>T intron variant NM_001408437.1:c.665-1294C>T intron variant NM_001408438.1:c.665-1294C>T intron variant NM_001408439.1:c.665-1294C>T intron variant NM_001408440.1:c.665-1294C>T intron variant NM_001408441.1:c.665-1294C>T intron variant NM_001408442.1:c.665-1294C>T intron variant NM_001408443.1:c.665-1294C>T intron variant NM_001408444.1:c.665-1294C>T intron variant NM_001408445.1:c.662-1294C>T intron variant NM_001408446.1:c.662-1294C>T intron variant NM_001408447.1:c.662-1294C>T intron variant NM_001408448.1:c.662-1294C>T intron variant NM_001408450.1:c.662-1294C>T intron variant NM_001408451.1:c.653-1294C>T intron variant NM_001408452.1:c.647-1294C>T intron variant NM_001408453.1:c.647-1294C>T intron variant NM_001408454.1:c.647-1294C>T intron variant NM_001408455.1:c.647-1294C>T intron variant NM_001408456.1:c.647-1294C>T intron variant NM_001408457.1:c.647-1294C>T intron variant NM_001408458.1:c.647-1294C>T intron variant NM_001408459.1:c.647-1294C>T intron variant NM_001408460.1:c.647-1294C>T intron variant NM_001408461.1:c.647-1294C>T intron variant NM_001408462.1:c.644-1294C>T intron variant NM_001408463.1:c.644-1294C>T intron variant NM_001408464.1:c.644-1294C>T intron variant NM_001408465.1:c.644-1294C>T intron variant NM_001408466.1:c.647-1294C>T intron variant NM_001408467.1:c.647-1294C>T intron variant NM_001408468.1:c.644-1294C>T intron variant NM_001408469.1:c.647-1294C>T intron variant NM_001408470.1:c.644-1294C>T intron variant NM_001408472.1:c.788-1294C>T intron variant NM_001408473.1:c.785-1294C>T intron variant NM_001408474.1:c.587-1294C>T intron variant NM_001408475.1:c.584-1294C>T intron variant NM_001408476.1:c.587-1294C>T intron variant NM_001408478.1:c.578-1294C>T intron variant NM_001408479.1:c.578-1294C>T intron variant NM_001408480.1:c.578-1294C>T intron variant NM_001408481.1:c.578-1294C>T intron variant NM_001408482.1:c.578-1294C>T intron variant NM_001408483.1:c.578-1294C>T intron variant NM_001408484.1:c.578-1294C>T intron variant NM_001408485.1:c.578-1294C>T intron variant NM_001408489.1:c.578-1294C>T intron variant NM_001408490.1:c.575-1294C>T intron variant NM_001408491.1:c.575-1294C>T intron variant NM_001408492.1:c.578-1294C>T intron variant NM_001408493.1:c.575-1294C>T intron variant NM_001408494.1:c.548-1294C>T intron variant NM_001408495.1:c.545-1294C>T intron variant NM_001408496.1:c.524-1294C>T intron variant NM_001408497.1:c.524-1294C>T intron variant NM_001408498.1:c.524-1294C>T intron variant NM_001408499.1:c.524-1294C>T intron variant NM_001408500.1:c.524-1294C>T intron variant NM_001408501.1:c.524-1294C>T intron variant NM_001408502.1:c.455-1294C>T intron variant NM_001408503.1:c.521-1294C>T intron variant NM_001408504.1:c.521-1294C>T intron variant NM_001408505.1:c.521-1294C>T intron variant NM_001408506.1:c.461-1294C>T intron variant NM_001408507.1:c.461-1294C>T intron variant NM_001408508.1:c.452-1294C>T intron variant NM_001408509.1:c.452-1294C>T intron variant NM_001408510.1:c.407-1294C>T intron variant NM_001408511.1:c.404-1294C>T intron variant NM_001408512.1:c.284-1294C>T intron variant NM_001408513.1:c.578-1294C>T intron variant NM_001408514.1:c.578-1294C>T intron variant NM_007297.4:c.3064C>T NP_009228.2:p.Gln1022Ter nonsense NM_007298.4:c.788-1294C>T intron variant NM_007299.4:c.788-1294C>T intron variant NM_007300.4:c.3205C>T NP_009231.2:p.Gln1069Ter nonsense NR_027676.1:n.3341C>T NC_000017.11:g.43092326G>A NC_000017.10:g.41244343G>A NG_005905.2:g.125658C>T NG_087068.1:g.1308G>A LRG_292:g.125658C>T LRG_292t1:c.3205C>T LRG_292p1:p.Gln1069Ter - Protein change
- Q1022*, Q1069*, Q1027*, Q901*, Q957*, Q998*, Q1002*, Q1042*, Q1043*, Q1068*, Q981*, Q1021*, Q941*, Q999*, Q1001*, Q1028*, Q1066*, Q773*, Q942*, Q958*, Q980*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092325: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.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13029 | 14833 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (1) |
criteria provided, single submitter
|
Jun 4, 2023 | RCV001381235.15 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Mar 12, 2020 | RCV001184198.13 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Dec 15, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002609320.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.Q1069* pathogenic mutation (also known as c.3205C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at … (more)
The p.Q1069* pathogenic mutation (also known as c.3205C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3205. This changes the amino acid from a glutamine to a stop codon within coding exon 9. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). (less)
|
|
Pathogenic
(Mar 12, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001350117.2
First in ClinVar: Jun 22, 2020 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. To our knowledge, this variant has been reported in an individual affected with breast cancer (PMID 28477318). 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)
|
|
Pathogenic
(Jun 04, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001579546.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1069*) in the BRCA1 gene. … (more)
This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1069*) 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 premature translational stop signal has been observed in individual(s) with hereditary breast and ovarian cancer syndrome (PMID: 28477318). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 923489). (less)
|
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 |
---|---|---|---|---|
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. | Gabaldó Barrios X | Familial cancer | 2017 | PMID: 28477318 |
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 |
Text-mined citations for rs2053627043 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.