ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3339_3341del (p.Tyr1113_Glu1114delinsTer)
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.3339_3341del (p.Tyr1113_Glu1114delinsTer)
Variation ID: 266357 Accession: VCV000266357.12
- Type and length
-
Deletion, 3 bp
- Location
-
Cytogenetic: 17q21.31 17: 43092190-43092192 (GRCh38) [ NCBI UCSC ] 17: 41244207-41244209 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 Feb 14, 2024 Oct 18, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3339_3341del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407571.1:c.3126_3128del NP_001394500.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407581.1:c.3339_3341del NP_001394510.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407582.1:c.3339_3341del NP_001394511.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407583.1:c.3339_3341del NP_001394512.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407585.1:c.3339_3341del NP_001394514.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407587.1:c.3336_3338del NP_001394516.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407590.1:c.3336_3338del NP_001394519.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407591.1:c.3336_3338del NP_001394520.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407593.1:c.3339_3341del NP_001394522.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407594.1:c.3339_3341del NP_001394523.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407596.1:c.3339_3341del NP_001394525.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407597.1:c.3339_3341del NP_001394526.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407598.1:c.3339_3341del NP_001394527.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407602.1:c.3339_3341del NP_001394531.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407603.1:c.3339_3341del NP_001394532.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407605.1:c.3339_3341del NP_001394534.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407610.1:c.3336_3338del NP_001394539.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407611.1:c.3336_3338del NP_001394540.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407612.1:c.3336_3338del NP_001394541.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407613.1:c.3336_3338del NP_001394542.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407614.1:c.3336_3338del NP_001394543.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407615.1:c.3336_3338del NP_001394544.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407616.1:c.3339_3341del NP_001394545.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407617.1:c.3339_3341del NP_001394546.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407618.1:c.3339_3341del NP_001394547.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407619.1:c.3339_3341del NP_001394548.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407620.1:c.3339_3341del NP_001394549.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407621.1:c.3339_3341del NP_001394550.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407622.1:c.3339_3341del NP_001394551.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407623.1:c.3339_3341del NP_001394552.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407624.1:c.3339_3341del NP_001394553.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407625.1:c.3339_3341del NP_001394554.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407626.1:c.3339_3341del NP_001394555.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407627.1:c.3336_3338del NP_001394556.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407628.1:c.3336_3338del NP_001394557.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407629.1:c.3336_3338del NP_001394558.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407630.1:c.3336_3338del NP_001394559.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407631.1:c.3336_3338del NP_001394560.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407632.1:c.3336_3338del NP_001394561.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407633.1:c.3336_3338del NP_001394562.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407634.1:c.3336_3338del NP_001394563.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407635.1:c.3336_3338del NP_001394564.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407636.1:c.3336_3338del NP_001394565.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407637.1:c.3336_3338del NP_001394566.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407638.1:c.3336_3338del NP_001394567.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407639.1:c.3339_3341del NP_001394568.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407640.1:c.3339_3341del NP_001394569.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407641.1:c.3339_3341del NP_001394570.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407642.1:c.3339_3341del NP_001394571.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407644.1:c.3336_3338del NP_001394573.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407645.1:c.3336_3338del NP_001394574.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407646.1:c.3330_3332del NP_001394575.1:p.Tyr1110_Glu1111delinsTer nonsense NM_001407647.1:c.3330_3332del NP_001394576.1:p.Tyr1110_Glu1111delinsTer nonsense NM_001407648.1:c.3216_3218del NP_001394577.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407649.1:c.3213_3215del NP_001394578.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407652.1:c.3339_3341del NP_001394581.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407653.1:c.3261_3263del NP_001394582.1:p.Tyr1087_Glu1088delinsTer nonsense NM_001407654.1:c.3261_3263del NP_001394583.1:p.Tyr1087_Glu1088delinsTer nonsense NM_001407655.1:c.3261_3263del NP_001394584.1:p.Tyr1087_Glu1088delinsTer nonsense NM_001407656.1:c.3261_3263del NP_001394585.1:p.Tyr1087_Glu1088delinsTer nonsense NM_001407657.1:c.3261_3263del NP_001394586.1:p.Tyr1087_Glu1088delinsTer nonsense NM_001407658.1:c.3261_3263del NP_001394587.1:p.Tyr1087_Glu1088delinsTer nonsense NM_001407659.1:c.3258_3260del NP_001394588.1:p.Tyr1086_Glu1087delinsTer nonsense NM_001407660.1:c.3258_3260del NP_001394589.1:p.Tyr1086_Glu1087delinsTer nonsense NM_001407661.1:c.3258_3260del NP_001394590.1:p.Tyr1086_Glu1087delinsTer nonsense NM_001407662.1:c.3258_3260del NP_001394591.1:p.Tyr1086_Glu1087delinsTer nonsense NM_001407663.1:c.3261_3263del NP_001394592.1:p.Tyr1087_Glu1088delinsTer nonsense NM_001407664.1:c.3216_3218del NP_001394593.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407665.1:c.3216_3218del NP_001394594.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407666.1:c.3216_3218del NP_001394595.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407667.1:c.3216_3218del NP_001394596.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407668.1:c.3216_3218del NP_001394597.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407669.1:c.3216_3218del NP_001394598.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407670.1:c.3213_3215del NP_001394599.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407671.1:c.3213_3215del NP_001394600.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407672.1:c.3213_3215del NP_001394601.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407673.1:c.3213_3215del NP_001394602.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407674.1:c.3216_3218del NP_001394603.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407675.1:c.3216_3218del NP_001394604.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407676.1:c.3216_3218del NP_001394605.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407677.1:c.3216_3218del NP_001394606.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407678.1:c.3216_3218del NP_001394607.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407679.1:c.3216_3218del NP_001394608.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407680.1:c.3216_3218del NP_001394609.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407681.1:c.3216_3218del NP_001394610.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407682.1:c.3216_3218del NP_001394611.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407683.1:c.3216_3218del NP_001394612.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407684.1:c.3339_3341del NP_001394613.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407685.1:c.3213_3215del NP_001394614.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407686.1:c.3213_3215del NP_001394615.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407687.1:c.3213_3215del NP_001394616.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407688.1:c.3213_3215del NP_001394617.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407689.1:c.3213_3215del NP_001394618.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407690.1:c.3213_3215del NP_001394619.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407691.1:c.3213_3215del NP_001394620.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407692.1:c.3198_3200del NP_001394621.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407694.1:c.3198_3200del NP_001394623.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407695.1:c.3198_3200del NP_001394624.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407696.1:c.3198_3200del NP_001394625.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407697.1:c.3198_3200del NP_001394626.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407698.1:c.3198_3200del NP_001394627.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407724.1:c.3198_3200del NP_001394653.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407725.1:c.3198_3200del NP_001394654.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407726.1:c.3198_3200del NP_001394655.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407727.1:c.3198_3200del NP_001394656.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407728.1:c.3198_3200del NP_001394657.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407729.1:c.3198_3200del NP_001394658.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407730.1:c.3198_3200del NP_001394659.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407731.1:c.3198_3200del NP_001394660.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407732.1:c.3198_3200del NP_001394661.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407733.1:c.3198_3200del NP_001394662.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407734.1:c.3198_3200del NP_001394663.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407735.1:c.3198_3200del NP_001394664.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407736.1:c.3198_3200del NP_001394665.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407737.1:c.3198_3200del NP_001394666.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407738.1:c.3198_3200del NP_001394667.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407739.1:c.3198_3200del NP_001394668.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407740.1:c.3195_3197del NP_001394669.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407741.1:c.3195_3197del NP_001394670.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407742.1:c.3195_3197del NP_001394671.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407743.1:c.3195_3197del NP_001394672.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407744.1:c.3195_3197del NP_001394673.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407745.1:c.3195_3197del NP_001394674.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407746.1:c.3195_3197del NP_001394675.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407747.1:c.3195_3197del NP_001394676.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407748.1:c.3195_3197del NP_001394677.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407749.1:c.3195_3197del NP_001394678.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407750.1:c.3198_3200del NP_001394679.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407751.1:c.3198_3200del NP_001394680.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407752.1:c.3198_3200del NP_001394681.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407838.1:c.3195_3197del NP_001394767.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407839.1:c.3195_3197del NP_001394768.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407841.1:c.3195_3197del NP_001394770.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407842.1:c.3195_3197del NP_001394771.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407843.1:c.3195_3197del NP_001394772.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407844.1:c.3195_3197del NP_001394773.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407845.1:c.3195_3197del NP_001394774.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407846.1:c.3195_3197del NP_001394775.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407847.1:c.3195_3197del NP_001394776.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407848.1:c.3195_3197del NP_001394777.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407849.1:c.3195_3197del NP_001394778.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407850.1:c.3198_3200del NP_001394779.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407851.1:c.3198_3200del NP_001394780.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407852.1:c.3198_3200del NP_001394781.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407853.1:c.3126_3128del NP_001394782.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407854.1:c.3339_3341del NP_001394783.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407858.1:c.3339_3341del NP_001394787.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407859.1:c.3339_3341del NP_001394788.1:p.Tyr1113_Glu1114delinsTer nonsense NM_001407860.1:c.3336_3338del NP_001394789.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407861.1:c.3336_3338del NP_001394790.1:p.Tyr1112_Glu1113delinsTer nonsense NM_001407862.1:c.3138_3140del NP_001394791.1:p.Tyr1046_Glu1047delinsTer nonsense NM_001407863.1:c.3216_3218del NP_001394792.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407874.1:c.3135_3137del NP_001394803.1:p.Tyr1045_Glu1046delinsTer nonsense NM_001407875.1:c.3135_3137del NP_001394804.1:p.Tyr1045_Glu1046delinsTer nonsense NM_001407879.1:c.3129_3131del NP_001394808.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407881.1:c.3129_3131del NP_001394810.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407882.1:c.3129_3131del NP_001394811.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407884.1:c.3129_3131del NP_001394813.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407885.1:c.3129_3131del NP_001394814.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407886.1:c.3129_3131del NP_001394815.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407887.1:c.3129_3131del NP_001394816.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407889.1:c.3129_3131del NP_001394818.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407894.1:c.3126_3128del NP_001394823.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407895.1:c.3126_3128del NP_001394824.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407896.1:c.3126_3128del NP_001394825.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407897.1:c.3126_3128del NP_001394826.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407898.1:c.3126_3128del NP_001394827.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407899.1:c.3126_3128del NP_001394828.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407900.1:c.3129_3131del NP_001394829.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407902.1:c.3129_3131del NP_001394831.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407904.1:c.3129_3131del NP_001394833.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407906.1:c.3129_3131del NP_001394835.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407907.1:c.3129_3131del NP_001394836.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407908.1:c.3129_3131del NP_001394837.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407909.1:c.3129_3131del NP_001394838.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407910.1:c.3129_3131del NP_001394839.1:p.Tyr1043_Glu1044delinsTer nonsense NM_001407915.1:c.3126_3128del NP_001394844.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407916.1:c.3126_3128del NP_001394845.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407917.1:c.3126_3128del NP_001394846.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407918.1:c.3126_3128del NP_001394847.1:p.Tyr1042_Glu1043delinsTer nonsense NM_001407919.1:c.3216_3218del NP_001394848.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407920.1:c.3075_3077del NP_001394849.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407921.1:c.3075_3077del NP_001394850.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407922.1:c.3075_3077del NP_001394851.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407923.1:c.3075_3077del NP_001394852.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407924.1:c.3075_3077del NP_001394853.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407925.1:c.3075_3077del NP_001394854.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407926.1:c.3075_3077del NP_001394855.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407927.1:c.3075_3077del NP_001394856.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407928.1:c.3075_3077del NP_001394857.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407929.1:c.3075_3077del NP_001394858.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407930.1:c.3072_3074del NP_001394859.1:p.Tyr1024_Glu1025delinsTer nonsense NM_001407931.1:c.3072_3074del NP_001394860.1:p.Tyr1024_Glu1025delinsTer nonsense NM_001407932.1:c.3072_3074del NP_001394861.1:p.Tyr1024_Glu1025delinsTer nonsense NM_001407933.1:c.3075_3077del NP_001394862.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407934.1:c.3072_3074del NP_001394863.1:p.Tyr1024_Glu1025delinsTer nonsense NM_001407935.1:c.3075_3077del NP_001394864.1:p.Tyr1025_Glu1026delinsTer nonsense NM_001407936.1:c.3072_3074del NP_001394865.1:p.Tyr1024_Glu1025delinsTer nonsense NM_001407937.1:c.3216_3218del NP_001394866.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407938.1:c.3216_3218del NP_001394867.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407939.1:c.3216_3218del NP_001394868.1:p.Tyr1072_Glu1073delinsTer nonsense NM_001407940.1:c.3213_3215del NP_001394869.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407941.1:c.3213_3215del NP_001394870.1:p.Tyr1071_Glu1072delinsTer nonsense NM_001407942.1:c.3198_3200del NP_001394871.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407943.1:c.3195_3197del NP_001394872.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407944.1:c.3198_3200del NP_001394873.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407945.1:c.3198_3200del NP_001394874.1:p.Tyr1066_Glu1067delinsTer nonsense NM_001407946.1:c.3006_3008del NP_001394875.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407947.1:c.3006_3008del NP_001394876.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407948.1:c.3006_3008del NP_001394877.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407949.1:c.3006_3008del NP_001394878.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407950.1:c.3006_3008del NP_001394879.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407951.1:c.3006_3008del NP_001394880.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407952.1:c.3006_3008del NP_001394881.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407953.1:c.3006_3008del NP_001394882.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407954.1:c.3003_3005del NP_001394883.1:p.Tyr1001_Glu1002delinsTer nonsense NM_001407955.1:c.3003_3005del NP_001394884.1:p.Tyr1001_Glu1002delinsTer nonsense NM_001407956.1:c.3003_3005del NP_001394885.1:p.Tyr1001_Glu1002delinsTer nonsense NM_001407957.1:c.3006_3008del NP_001394886.1:p.Tyr1002_Glu1003delinsTer nonsense NM_001407958.1:c.3003_3005del NP_001394887.1:p.Tyr1001_Glu1002delinsTer nonsense NM_001407959.1:c.2958_2960del NP_001394888.1:p.Tyr986_Glu987delinsTer nonsense NM_001407960.1:c.2958_2960del NP_001394889.1:p.Tyr986_Glu987delinsTer nonsense NM_001407962.1:c.2955_2957del NP_001394891.1:p.Tyr985_Glu986delinsTer nonsense NM_001407963.1:c.2958_2960del NP_001394892.1:p.Tyr986_Glu987delinsTer nonsense NM_001407964.1:c.3195_3197del NP_001394893.1:p.Tyr1065_Glu1066delinsTer nonsense NM_001407965.1:c.2835_2837del NP_001394894.1:p.Tyr945_Glu946delinsTer nonsense NM_001407966.1:c.2451_2453del NP_001394895.1:p.Tyr817_Glu818delinsTer nonsense NM_001407967.1:c.2451_2453del NP_001394896.1:p.Tyr817_Glu818delinsTer nonsense NM_001407968.1:c.788-53_788-51del intron variant NM_001407969.1:c.788-53_788-51del intron variant NM_001407970.1:c.788-1160_788-1158del intron variant NM_001407971.1:c.788-1160_788-1158del intron variant NM_001407972.1:c.785-1160_785-1158del intron variant NM_001407973.1:c.788-1160_788-1158del intron variant NM_001407974.1:c.788-1160_788-1158del intron variant NM_001407975.1:c.788-1160_788-1158del intron variant NM_001407976.1:c.788-1160_788-1158del intron variant NM_001407977.1:c.788-1160_788-1158del intron variant NM_001407978.1:c.788-1160_788-1158del intron variant NM_001407979.1:c.788-1160_788-1158del intron variant NM_001407980.1:c.788-1160_788-1158del intron variant NM_001407981.1:c.788-1160_788-1158del intron variant NM_001407982.1:c.788-1160_788-1158del intron variant NM_001407983.1:c.788-1160_788-1158del intron variant NM_001407984.1:c.785-1160_785-1158del intron variant NM_001407985.1:c.785-1160_785-1158del intron variant NM_001407986.1:c.785-1160_785-1158del intron variant NM_001407990.1:c.788-1160_788-1158del intron variant NM_001407991.1:c.785-1160_785-1158del intron variant NM_001407992.1:c.785-1160_785-1158del intron variant NM_001407993.1:c.788-1160_788-1158del intron variant NM_001408392.1:c.785-1160_785-1158del intron variant NM_001408396.1:c.785-1160_785-1158del intron variant NM_001408397.1:c.785-1160_785-1158del intron variant NM_001408398.1:c.785-1160_785-1158del intron variant NM_001408399.1:c.785-1160_785-1158del intron variant NM_001408400.1:c.785-1160_785-1158del intron variant NM_001408401.1:c.785-1160_785-1158del intron variant NM_001408402.1:c.785-1160_785-1158del intron variant NM_001408403.1:c.788-1160_788-1158del intron variant NM_001408404.1:c.788-1160_788-1158del intron variant NM_001408406.1:c.791-1169_791-1167del intron variant NM_001408407.1:c.785-1160_785-1158del intron variant NM_001408408.1:c.779-1160_779-1158del intron variant NM_001408409.1:c.710-1160_710-1158del intron variant NM_001408410.1:c.647-1160_647-1158del intron variant NM_001408411.1:c.710-1160_710-1158del intron variant NM_001408412.1:c.710-1160_710-1158del intron variant NM_001408413.1:c.707-1160_707-1158del intron variant NM_001408414.1:c.710-1160_710-1158del intron variant NM_001408415.1:c.710-1160_710-1158del intron variant NM_001408416.1:c.707-1160_707-1158del intron variant NM_001408418.1:c.671-1160_671-1158del intron variant NM_001408419.1:c.671-1160_671-1158del intron variant NM_001408420.1:c.671-1160_671-1158del intron variant NM_001408421.1:c.668-1160_668-1158del intron variant NM_001408422.1:c.671-1160_671-1158del intron variant NM_001408423.1:c.671-1160_671-1158del intron variant NM_001408424.1:c.668-1160_668-1158del intron variant NM_001408425.1:c.665-1160_665-1158del intron variant NM_001408426.1:c.665-1160_665-1158del intron variant NM_001408427.1:c.665-1160_665-1158del intron variant NM_001408428.1:c.665-1160_665-1158del intron variant NM_001408429.1:c.665-1160_665-1158del intron variant NM_001408430.1:c.665-1160_665-1158del intron variant NM_001408431.1:c.668-1160_668-1158del intron variant NM_001408432.1:c.662-1160_662-1158del intron variant NM_001408433.1:c.662-1160_662-1158del intron variant NM_001408434.1:c.662-1160_662-1158del intron variant NM_001408435.1:c.662-1160_662-1158del intron variant NM_001408436.1:c.665-1160_665-1158del intron variant NM_001408437.1:c.665-1160_665-1158del intron variant NM_001408438.1:c.665-1160_665-1158del intron variant NM_001408439.1:c.665-1160_665-1158del intron variant NM_001408440.1:c.665-1160_665-1158del intron variant NM_001408441.1:c.665-1160_665-1158del intron variant NM_001408442.1:c.665-1160_665-1158del intron variant NM_001408443.1:c.665-1160_665-1158del intron variant NM_001408444.1:c.665-1160_665-1158del intron variant NM_001408445.1:c.662-1160_662-1158del intron variant NM_001408446.1:c.662-1160_662-1158del intron variant NM_001408447.1:c.662-1160_662-1158del intron variant NM_001408448.1:c.662-1160_662-1158del intron variant NM_001408450.1:c.662-1160_662-1158del intron variant NM_001408451.1:c.653-1160_653-1158del intron variant NM_001408452.1:c.647-1160_647-1158del intron variant NM_001408453.1:c.647-1160_647-1158del intron variant NM_001408454.1:c.647-1160_647-1158del intron variant NM_001408455.1:c.647-1160_647-1158del intron variant NM_001408456.1:c.647-1160_647-1158del intron variant NM_001408457.1:c.647-1160_647-1158del intron variant NM_001408458.1:c.647-1160_647-1158del intron variant NM_001408459.1:c.647-1160_647-1158del intron variant NM_001408460.1:c.647-1160_647-1158del intron variant NM_001408461.1:c.647-1160_647-1158del intron variant NM_001408462.1:c.644-1160_644-1158del intron variant NM_001408463.1:c.644-1160_644-1158del intron variant NM_001408464.1:c.644-1160_644-1158del intron variant NM_001408465.1:c.644-1160_644-1158del intron variant NM_001408466.1:c.647-1160_647-1158del intron variant NM_001408467.1:c.647-1160_647-1158del intron variant NM_001408468.1:c.644-1160_644-1158del intron variant NM_001408469.1:c.647-1160_647-1158del intron variant NM_001408470.1:c.644-1160_644-1158del intron variant NM_001408472.1:c.788-1160_788-1158del intron variant NM_001408473.1:c.785-1160_785-1158del intron variant NM_001408474.1:c.587-1160_587-1158del intron variant NM_001408475.1:c.584-1160_584-1158del intron variant NM_001408476.1:c.587-1160_587-1158del intron variant NM_001408478.1:c.578-1160_578-1158del intron variant NM_001408479.1:c.578-1160_578-1158del intron variant NM_001408480.1:c.578-1160_578-1158del intron variant NM_001408481.1:c.578-1160_578-1158del intron variant NM_001408482.1:c.578-1160_578-1158del intron variant NM_001408483.1:c.578-1160_578-1158del intron variant NM_001408484.1:c.578-1160_578-1158del intron variant NM_001408485.1:c.578-1160_578-1158del intron variant NM_001408489.1:c.578-1160_578-1158del intron variant NM_001408490.1:c.575-1160_575-1158del intron variant NM_001408491.1:c.575-1160_575-1158del intron variant NM_001408492.1:c.578-1160_578-1158del intron variant NM_001408493.1:c.575-1160_575-1158del intron variant NM_001408494.1:c.548-1160_548-1158del intron variant NM_001408495.1:c.545-1160_545-1158del intron variant NM_001408496.1:c.524-1160_524-1158del intron variant NM_001408497.1:c.524-1160_524-1158del intron variant NM_001408498.1:c.524-1160_524-1158del intron variant NM_001408499.1:c.524-1160_524-1158del intron variant NM_001408500.1:c.524-1160_524-1158del intron variant NM_001408501.1:c.524-1160_524-1158del intron variant NM_001408502.1:c.455-1160_455-1158del intron variant NM_001408503.1:c.521-1160_521-1158del intron variant NM_001408504.1:c.521-1160_521-1158del intron variant NM_001408505.1:c.521-1160_521-1158del intron variant NM_001408506.1:c.461-1160_461-1158del intron variant NM_001408507.1:c.461-1160_461-1158del intron variant NM_001408508.1:c.452-1160_452-1158del intron variant NM_001408509.1:c.452-1160_452-1158del intron variant NM_001408510.1:c.407-1160_407-1158del intron variant NM_001408511.1:c.404-1160_404-1158del intron variant NM_001408512.1:c.284-1160_284-1158del intron variant NM_001408513.1:c.578-1160_578-1158del intron variant NM_001408514.1:c.578-1160_578-1158del intron variant NM_007294.3:c.3338_3340delATG NP_009225.1:p.Tyr1113_Ser1448delinsTer nonsense NM_007297.4:c.3198_3200del NP_009228.2:p.Tyr1066_Glu1067delinsTer nonsense NM_007298.4:c.788-1160_788-1158del intron variant NM_007299.4:c.788-1160_788-1158del intron variant NM_007300.4:c.3339_3341del NP_009231.2:p.Tyr1113_Glu1114delinsTer nonsense NR_027676.1:n.3474_3476delATG NC_000017.11:g.43092191_43092193del NC_000017.10:g.41244208_41244210del NG_005905.2:g.125792_125794del NG_087068.1:g.1173_1175del LRG_292:g.125792_125794del LRG_292t1:c.3339_3341del LRG_292p1:p.Tyr1113_Glu1114delinsTer - Protein change
- Other names
- 3458delTGA
- Canonical SPDI
- NC_000017.11:43092189:TCAT:T
-
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 | ||
---|---|---|---|---|---|---|
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 |
12795 | 14565 | |
LOC126862571 | - | - | - | GRCh38 | - | 1622 |
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 (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257651.13 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 23, 2020 | RCV001381234.14 |
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
(Oct 18, 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: SCV000323594.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
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: SCV000325622.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Jan 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001579542.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in individual(s) with a personal or family history of breast and/or ovarian cancer (PMID: 27553291, 29446198, 22762150). ClinVar contains an entry for this variant (Variation ID: 266357). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1113*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (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 |
---|---|---|---|---|
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. | Rashid MU | BMC cancer | 2016 | PMID: 27553291 |
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). | Lecarpentier J | Breast cancer research : BCR | 2012 | PMID: 22762150 |
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 rs886040117 ...
HelpRecord last updated Apr 20, 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.