ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
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.
Uncertain significance(2); Benign(2); Likely benign(5)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
Variation ID: 37541 Accession: VCV000037541.32
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43091840 (GRCh38) [ NCBI UCSC ] 17: 41243857 (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 Apr 1, 2014 Oct 8, 2024 May 21, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3691T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Phe1231Leu missense NM_001407571.1:c.3478T>C NP_001394500.1:p.Phe1160Leu missense NM_001407581.1:c.3691T>C NP_001394510.1:p.Phe1231Leu missense NM_001407582.1:c.3691T>C NP_001394511.1:p.Phe1231Leu missense NM_001407583.1:c.3691T>C NP_001394512.1:p.Phe1231Leu missense NM_001407585.1:c.3691T>C NP_001394514.1:p.Phe1231Leu missense NM_001407587.1:c.3688T>C NP_001394516.1:p.Phe1230Leu missense NM_001407590.1:c.3688T>C NP_001394519.1:p.Phe1230Leu missense NM_001407591.1:c.3688T>C NP_001394520.1:p.Phe1230Leu missense NM_001407593.1:c.3691T>C NP_001394522.1:p.Phe1231Leu missense NM_001407594.1:c.3691T>C NP_001394523.1:p.Phe1231Leu missense NM_001407596.1:c.3691T>C NP_001394525.1:p.Phe1231Leu missense NM_001407597.1:c.3691T>C NP_001394526.1:p.Phe1231Leu missense NM_001407598.1:c.3691T>C NP_001394527.1:p.Phe1231Leu missense NM_001407602.1:c.3691T>C NP_001394531.1:p.Phe1231Leu missense NM_001407603.1:c.3691T>C NP_001394532.1:p.Phe1231Leu missense NM_001407605.1:c.3691T>C NP_001394534.1:p.Phe1231Leu missense NM_001407610.1:c.3688T>C NP_001394539.1:p.Phe1230Leu missense NM_001407611.1:c.3688T>C NP_001394540.1:p.Phe1230Leu missense NM_001407612.1:c.3688T>C NP_001394541.1:p.Phe1230Leu missense NM_001407613.1:c.3688T>C NP_001394542.1:p.Phe1230Leu missense NM_001407614.1:c.3688T>C NP_001394543.1:p.Phe1230Leu missense NM_001407615.1:c.3688T>C NP_001394544.1:p.Phe1230Leu missense NM_001407616.1:c.3691T>C NP_001394545.1:p.Phe1231Leu missense NM_001407617.1:c.3691T>C NP_001394546.1:p.Phe1231Leu missense NM_001407618.1:c.3691T>C NP_001394547.1:p.Phe1231Leu missense NM_001407619.1:c.3691T>C NP_001394548.1:p.Phe1231Leu missense NM_001407620.1:c.3691T>C NP_001394549.1:p.Phe1231Leu missense NM_001407621.1:c.3691T>C NP_001394550.1:p.Phe1231Leu missense NM_001407622.1:c.3691T>C NP_001394551.1:p.Phe1231Leu missense NM_001407623.1:c.3691T>C NP_001394552.1:p.Phe1231Leu missense NM_001407624.1:c.3691T>C NP_001394553.1:p.Phe1231Leu missense NM_001407625.1:c.3691T>C NP_001394554.1:p.Phe1231Leu missense NM_001407626.1:c.3691T>C NP_001394555.1:p.Phe1231Leu missense NM_001407627.1:c.3688T>C NP_001394556.1:p.Phe1230Leu missense NM_001407628.1:c.3688T>C NP_001394557.1:p.Phe1230Leu missense NM_001407629.1:c.3688T>C NP_001394558.1:p.Phe1230Leu missense NM_001407630.1:c.3688T>C NP_001394559.1:p.Phe1230Leu missense NM_001407631.1:c.3688T>C NP_001394560.1:p.Phe1230Leu missense NM_001407632.1:c.3688T>C NP_001394561.1:p.Phe1230Leu missense NM_001407633.1:c.3688T>C NP_001394562.1:p.Phe1230Leu missense NM_001407634.1:c.3688T>C NP_001394563.1:p.Phe1230Leu missense NM_001407635.1:c.3688T>C NP_001394564.1:p.Phe1230Leu missense NM_001407636.1:c.3688T>C NP_001394565.1:p.Phe1230Leu missense NM_001407637.1:c.3688T>C NP_001394566.1:p.Phe1230Leu missense NM_001407638.1:c.3688T>C NP_001394567.1:p.Phe1230Leu missense NM_001407639.1:c.3691T>C NP_001394568.1:p.Phe1231Leu missense NM_001407640.1:c.3691T>C NP_001394569.1:p.Phe1231Leu missense NM_001407641.1:c.3691T>C NP_001394570.1:p.Phe1231Leu missense NM_001407642.1:c.3691T>C NP_001394571.1:p.Phe1231Leu missense NM_001407644.1:c.3688T>C NP_001394573.1:p.Phe1230Leu missense NM_001407645.1:c.3688T>C NP_001394574.1:p.Phe1230Leu missense NM_001407646.1:c.3682T>C NP_001394575.1:p.Phe1228Leu missense NM_001407647.1:c.3682T>C NP_001394576.1:p.Phe1228Leu missense NM_001407648.1:c.3568T>C NP_001394577.1:p.Phe1190Leu missense NM_001407649.1:c.3565T>C NP_001394578.1:p.Phe1189Leu missense NM_001407652.1:c.3691T>C NP_001394581.1:p.Phe1231Leu missense NM_001407653.1:c.3613T>C NP_001394582.1:p.Phe1205Leu missense NM_001407654.1:c.3613T>C NP_001394583.1:p.Phe1205Leu missense NM_001407655.1:c.3613T>C NP_001394584.1:p.Phe1205Leu missense NM_001407656.1:c.3613T>C NP_001394585.1:p.Phe1205Leu missense NM_001407657.1:c.3613T>C NP_001394586.1:p.Phe1205Leu missense NM_001407658.1:c.3613T>C NP_001394587.1:p.Phe1205Leu missense NM_001407659.1:c.3610T>C NP_001394588.1:p.Phe1204Leu missense NM_001407660.1:c.3610T>C NP_001394589.1:p.Phe1204Leu missense NM_001407661.1:c.3610T>C NP_001394590.1:p.Phe1204Leu missense NM_001407662.1:c.3610T>C NP_001394591.1:p.Phe1204Leu missense NM_001407663.1:c.3613T>C NP_001394592.1:p.Phe1205Leu missense NM_001407664.1:c.3568T>C NP_001394593.1:p.Phe1190Leu missense NM_001407665.1:c.3568T>C NP_001394594.1:p.Phe1190Leu missense NM_001407666.1:c.3568T>C NP_001394595.1:p.Phe1190Leu missense NM_001407667.1:c.3568T>C NP_001394596.1:p.Phe1190Leu missense NM_001407668.1:c.3568T>C NP_001394597.1:p.Phe1190Leu missense NM_001407669.1:c.3568T>C NP_001394598.1:p.Phe1190Leu missense NM_001407670.1:c.3565T>C NP_001394599.1:p.Phe1189Leu missense NM_001407671.1:c.3565T>C NP_001394600.1:p.Phe1189Leu missense NM_001407672.1:c.3565T>C NP_001394601.1:p.Phe1189Leu missense NM_001407673.1:c.3565T>C NP_001394602.1:p.Phe1189Leu missense NM_001407674.1:c.3568T>C NP_001394603.1:p.Phe1190Leu missense NM_001407675.1:c.3568T>C NP_001394604.1:p.Phe1190Leu missense NM_001407676.1:c.3568T>C NP_001394605.1:p.Phe1190Leu missense NM_001407677.1:c.3568T>C NP_001394606.1:p.Phe1190Leu missense NM_001407678.1:c.3568T>C NP_001394607.1:p.Phe1190Leu missense NM_001407679.1:c.3568T>C NP_001394608.1:p.Phe1190Leu missense NM_001407680.1:c.3568T>C NP_001394609.1:p.Phe1190Leu missense NM_001407681.1:c.3568T>C NP_001394610.1:p.Phe1190Leu missense NM_001407682.1:c.3568T>C NP_001394611.1:p.Phe1190Leu missense NM_001407683.1:c.3568T>C NP_001394612.1:p.Phe1190Leu missense NM_001407684.1:c.3691T>C NP_001394613.1:p.Phe1231Leu missense NM_001407685.1:c.3565T>C NP_001394614.1:p.Phe1189Leu missense NM_001407686.1:c.3565T>C NP_001394615.1:p.Phe1189Leu missense NM_001407687.1:c.3565T>C NP_001394616.1:p.Phe1189Leu missense NM_001407688.1:c.3565T>C NP_001394617.1:p.Phe1189Leu missense NM_001407689.1:c.3565T>C NP_001394618.1:p.Phe1189Leu missense NM_001407690.1:c.3565T>C NP_001394619.1:p.Phe1189Leu missense NM_001407691.1:c.3565T>C NP_001394620.1:p.Phe1189Leu missense NM_001407692.1:c.3550T>C NP_001394621.1:p.Phe1184Leu missense NM_001407694.1:c.3550T>C NP_001394623.1:p.Phe1184Leu missense NM_001407695.1:c.3550T>C NP_001394624.1:p.Phe1184Leu missense NM_001407696.1:c.3550T>C NP_001394625.1:p.Phe1184Leu missense NM_001407697.1:c.3550T>C NP_001394626.1:p.Phe1184Leu missense NM_001407698.1:c.3550T>C NP_001394627.1:p.Phe1184Leu missense NM_001407724.1:c.3550T>C NP_001394653.1:p.Phe1184Leu missense NM_001407725.1:c.3550T>C NP_001394654.1:p.Phe1184Leu missense NM_001407726.1:c.3550T>C NP_001394655.1:p.Phe1184Leu missense NM_001407727.1:c.3550T>C NP_001394656.1:p.Phe1184Leu missense NM_001407728.1:c.3550T>C NP_001394657.1:p.Phe1184Leu missense NM_001407729.1:c.3550T>C NP_001394658.1:p.Phe1184Leu missense NM_001407730.1:c.3550T>C NP_001394659.1:p.Phe1184Leu missense NM_001407731.1:c.3550T>C NP_001394660.1:p.Phe1184Leu missense NM_001407732.1:c.3550T>C NP_001394661.1:p.Phe1184Leu missense NM_001407733.1:c.3550T>C NP_001394662.1:p.Phe1184Leu missense NM_001407734.1:c.3550T>C NP_001394663.1:p.Phe1184Leu missense NM_001407735.1:c.3550T>C NP_001394664.1:p.Phe1184Leu missense NM_001407736.1:c.3550T>C NP_001394665.1:p.Phe1184Leu missense NM_001407737.1:c.3550T>C NP_001394666.1:p.Phe1184Leu missense NM_001407738.1:c.3550T>C NP_001394667.1:p.Phe1184Leu missense NM_001407739.1:c.3550T>C NP_001394668.1:p.Phe1184Leu missense NM_001407740.1:c.3547T>C NP_001394669.1:p.Phe1183Leu missense NM_001407741.1:c.3547T>C NP_001394670.1:p.Phe1183Leu missense NM_001407742.1:c.3547T>C NP_001394671.1:p.Phe1183Leu missense NM_001407743.1:c.3547T>C NP_001394672.1:p.Phe1183Leu missense NM_001407744.1:c.3547T>C NP_001394673.1:p.Phe1183Leu missense NM_001407745.1:c.3547T>C NP_001394674.1:p.Phe1183Leu missense NM_001407746.1:c.3547T>C NP_001394675.1:p.Phe1183Leu missense NM_001407747.1:c.3547T>C NP_001394676.1:p.Phe1183Leu missense NM_001407748.1:c.3547T>C NP_001394677.1:p.Phe1183Leu missense NM_001407749.1:c.3547T>C NP_001394678.1:p.Phe1183Leu missense NM_001407750.1:c.3550T>C NP_001394679.1:p.Phe1184Leu missense NM_001407751.1:c.3550T>C NP_001394680.1:p.Phe1184Leu missense NM_001407752.1:c.3550T>C NP_001394681.1:p.Phe1184Leu missense NM_001407838.1:c.3547T>C NP_001394767.1:p.Phe1183Leu missense NM_001407839.1:c.3547T>C NP_001394768.1:p.Phe1183Leu missense NM_001407841.1:c.3547T>C NP_001394770.1:p.Phe1183Leu missense NM_001407842.1:c.3547T>C NP_001394771.1:p.Phe1183Leu missense NM_001407843.1:c.3547T>C NP_001394772.1:p.Phe1183Leu missense NM_001407844.1:c.3547T>C NP_001394773.1:p.Phe1183Leu missense NM_001407845.1:c.3547T>C NP_001394774.1:p.Phe1183Leu missense NM_001407846.1:c.3547T>C NP_001394775.1:p.Phe1183Leu missense NM_001407847.1:c.3547T>C NP_001394776.1:p.Phe1183Leu missense NM_001407848.1:c.3547T>C NP_001394777.1:p.Phe1183Leu missense NM_001407849.1:c.3547T>C NP_001394778.1:p.Phe1183Leu missense NM_001407850.1:c.3550T>C NP_001394779.1:p.Phe1184Leu missense NM_001407851.1:c.3550T>C NP_001394780.1:p.Phe1184Leu missense NM_001407852.1:c.3550T>C NP_001394781.1:p.Phe1184Leu missense NM_001407853.1:c.3478T>C NP_001394782.1:p.Phe1160Leu missense NM_001407854.1:c.3691T>C NP_001394783.1:p.Phe1231Leu missense NM_001407858.1:c.3691T>C NP_001394787.1:p.Phe1231Leu missense NM_001407859.1:c.3691T>C NP_001394788.1:p.Phe1231Leu missense NM_001407860.1:c.3688T>C NP_001394789.1:p.Phe1230Leu missense NM_001407861.1:c.3688T>C NP_001394790.1:p.Phe1230Leu missense NM_001407862.1:c.3490T>C NP_001394791.1:p.Phe1164Leu missense NM_001407863.1:c.3568T>C NP_001394792.1:p.Phe1190Leu missense NM_001407874.1:c.3487T>C NP_001394803.1:p.Phe1163Leu missense NM_001407875.1:c.3487T>C NP_001394804.1:p.Phe1163Leu missense NM_001407879.1:c.3481T>C NP_001394808.1:p.Phe1161Leu missense NM_001407881.1:c.3481T>C NP_001394810.1:p.Phe1161Leu missense NM_001407882.1:c.3481T>C NP_001394811.1:p.Phe1161Leu missense NM_001407884.1:c.3481T>C NP_001394813.1:p.Phe1161Leu missense NM_001407885.1:c.3481T>C NP_001394814.1:p.Phe1161Leu missense NM_001407886.1:c.3481T>C NP_001394815.1:p.Phe1161Leu missense NM_001407887.1:c.3481T>C NP_001394816.1:p.Phe1161Leu missense NM_001407889.1:c.3481T>C NP_001394818.1:p.Phe1161Leu missense NM_001407894.1:c.3478T>C NP_001394823.1:p.Phe1160Leu missense NM_001407895.1:c.3478T>C NP_001394824.1:p.Phe1160Leu missense NM_001407896.1:c.3478T>C NP_001394825.1:p.Phe1160Leu missense NM_001407897.1:c.3478T>C NP_001394826.1:p.Phe1160Leu missense NM_001407898.1:c.3478T>C NP_001394827.1:p.Phe1160Leu missense NM_001407899.1:c.3478T>C NP_001394828.1:p.Phe1160Leu missense NM_001407900.1:c.3481T>C NP_001394829.1:p.Phe1161Leu missense NM_001407902.1:c.3481T>C NP_001394831.1:p.Phe1161Leu missense NM_001407904.1:c.3481T>C NP_001394833.1:p.Phe1161Leu missense NM_001407906.1:c.3481T>C NP_001394835.1:p.Phe1161Leu missense NM_001407907.1:c.3481T>C NP_001394836.1:p.Phe1161Leu missense NM_001407908.1:c.3481T>C NP_001394837.1:p.Phe1161Leu missense NM_001407909.1:c.3481T>C NP_001394838.1:p.Phe1161Leu missense NM_001407910.1:c.3481T>C NP_001394839.1:p.Phe1161Leu missense NM_001407915.1:c.3478T>C NP_001394844.1:p.Phe1160Leu missense NM_001407916.1:c.3478T>C NP_001394845.1:p.Phe1160Leu missense NM_001407917.1:c.3478T>C NP_001394846.1:p.Phe1160Leu missense NM_001407918.1:c.3478T>C NP_001394847.1:p.Phe1160Leu missense NM_001407919.1:c.3568T>C NP_001394848.1:p.Phe1190Leu missense NM_001407920.1:c.3427T>C NP_001394849.1:p.Phe1143Leu missense NM_001407921.1:c.3427T>C NP_001394850.1:p.Phe1143Leu missense NM_001407922.1:c.3427T>C NP_001394851.1:p.Phe1143Leu missense NM_001407923.1:c.3427T>C NP_001394852.1:p.Phe1143Leu missense NM_001407924.1:c.3427T>C NP_001394853.1:p.Phe1143Leu missense NM_001407925.1:c.3427T>C NP_001394854.1:p.Phe1143Leu missense NM_001407926.1:c.3427T>C NP_001394855.1:p.Phe1143Leu missense NM_001407927.1:c.3427T>C NP_001394856.1:p.Phe1143Leu missense NM_001407928.1:c.3427T>C NP_001394857.1:p.Phe1143Leu missense NM_001407929.1:c.3427T>C NP_001394858.1:p.Phe1143Leu missense NM_001407930.1:c.3424T>C NP_001394859.1:p.Phe1142Leu missense NM_001407931.1:c.3424T>C NP_001394860.1:p.Phe1142Leu missense NM_001407932.1:c.3424T>C NP_001394861.1:p.Phe1142Leu missense NM_001407933.1:c.3427T>C NP_001394862.1:p.Phe1143Leu missense NM_001407934.1:c.3424T>C NP_001394863.1:p.Phe1142Leu missense NM_001407935.1:c.3427T>C NP_001394864.1:p.Phe1143Leu missense NM_001407936.1:c.3424T>C NP_001394865.1:p.Phe1142Leu missense NM_001407937.1:c.3568T>C NP_001394866.1:p.Phe1190Leu missense NM_001407938.1:c.3568T>C NP_001394867.1:p.Phe1190Leu missense NM_001407939.1:c.3568T>C NP_001394868.1:p.Phe1190Leu missense NM_001407940.1:c.3565T>C NP_001394869.1:p.Phe1189Leu missense NM_001407941.1:c.3565T>C NP_001394870.1:p.Phe1189Leu missense NM_001407942.1:c.3550T>C NP_001394871.1:p.Phe1184Leu missense NM_001407943.1:c.3547T>C NP_001394872.1:p.Phe1183Leu missense NM_001407944.1:c.3550T>C NP_001394873.1:p.Phe1184Leu missense NM_001407945.1:c.3550T>C NP_001394874.1:p.Phe1184Leu missense NM_001407946.1:c.3358T>C NP_001394875.1:p.Phe1120Leu missense NM_001407947.1:c.3358T>C NP_001394876.1:p.Phe1120Leu missense NM_001407948.1:c.3358T>C NP_001394877.1:p.Phe1120Leu missense NM_001407949.1:c.3358T>C NP_001394878.1:p.Phe1120Leu missense NM_001407950.1:c.3358T>C NP_001394879.1:p.Phe1120Leu missense NM_001407951.1:c.3358T>C NP_001394880.1:p.Phe1120Leu missense NM_001407952.1:c.3358T>C NP_001394881.1:p.Phe1120Leu missense NM_001407953.1:c.3358T>C NP_001394882.1:p.Phe1120Leu missense NM_001407954.1:c.3355T>C NP_001394883.1:p.Phe1119Leu missense NM_001407955.1:c.3355T>C NP_001394884.1:p.Phe1119Leu missense NM_001407956.1:c.3355T>C NP_001394885.1:p.Phe1119Leu missense NM_001407957.1:c.3358T>C NP_001394886.1:p.Phe1120Leu missense NM_001407958.1:c.3355T>C NP_001394887.1:p.Phe1119Leu missense NM_001407959.1:c.3310T>C NP_001394888.1:p.Phe1104Leu missense NM_001407960.1:c.3310T>C NP_001394889.1:p.Phe1104Leu missense NM_001407962.1:c.3307T>C NP_001394891.1:p.Phe1103Leu missense NM_001407963.1:c.3310T>C NP_001394892.1:p.Phe1104Leu missense NM_001407964.1:c.3547T>C NP_001394893.1:p.Phe1183Leu missense NM_001407965.1:c.3187T>C NP_001394894.1:p.Phe1063Leu missense NM_001407966.1:c.2803T>C NP_001394895.1:p.Phe935Leu missense NM_001407967.1:c.2803T>C NP_001394896.1:p.Phe935Leu missense NM_001407968.1:c.1087T>C NP_001394897.1:p.Phe363Leu missense NM_001407969.1:c.1087T>C NP_001394898.1:p.Phe363Leu missense NM_001407970.1:c.788-808T>C intron variant NM_001407971.1:c.788-808T>C intron variant NM_001407972.1:c.785-808T>C intron variant NM_001407973.1:c.788-808T>C intron variant NM_001407974.1:c.788-808T>C intron variant NM_001407975.1:c.788-808T>C intron variant NM_001407976.1:c.788-808T>C intron variant NM_001407977.1:c.788-808T>C intron variant NM_001407978.1:c.788-808T>C intron variant NM_001407979.1:c.788-808T>C intron variant NM_001407980.1:c.788-808T>C intron variant NM_001407981.1:c.788-808T>C intron variant NM_001407982.1:c.788-808T>C intron variant NM_001407983.1:c.788-808T>C intron variant NM_001407984.1:c.785-808T>C intron variant NM_001407985.1:c.785-808T>C intron variant NM_001407986.1:c.785-808T>C intron variant NM_001407990.1:c.788-808T>C intron variant NM_001407991.1:c.785-808T>C intron variant NM_001407992.1:c.785-808T>C intron variant NM_001407993.1:c.788-808T>C intron variant NM_001408392.1:c.785-808T>C intron variant NM_001408396.1:c.785-808T>C intron variant NM_001408397.1:c.785-808T>C intron variant NM_001408398.1:c.785-808T>C intron variant NM_001408399.1:c.785-808T>C intron variant NM_001408400.1:c.785-808T>C intron variant NM_001408401.1:c.785-808T>C intron variant NM_001408402.1:c.785-808T>C intron variant NM_001408403.1:c.788-808T>C intron variant NM_001408404.1:c.788-808T>C intron variant NM_001408406.1:c.791-817T>C intron variant NM_001408407.1:c.785-808T>C intron variant NM_001408408.1:c.779-808T>C intron variant NM_001408409.1:c.710-808T>C intron variant NM_001408410.1:c.647-808T>C intron variant NM_001408411.1:c.710-808T>C intron variant NM_001408412.1:c.710-808T>C intron variant NM_001408413.1:c.707-808T>C intron variant NM_001408414.1:c.710-808T>C intron variant NM_001408415.1:c.710-808T>C intron variant NM_001408416.1:c.707-808T>C intron variant NM_001408418.1:c.671-808T>C intron variant NM_001408419.1:c.671-808T>C intron variant NM_001408420.1:c.671-808T>C intron variant NM_001408421.1:c.668-808T>C intron variant NM_001408422.1:c.671-808T>C intron variant NM_001408423.1:c.671-808T>C intron variant NM_001408424.1:c.668-808T>C intron variant NM_001408425.1:c.665-808T>C intron variant NM_001408426.1:c.665-808T>C intron variant NM_001408427.1:c.665-808T>C intron variant NM_001408428.1:c.665-808T>C intron variant NM_001408429.1:c.665-808T>C intron variant NM_001408430.1:c.665-808T>C intron variant NM_001408431.1:c.668-808T>C intron variant NM_001408432.1:c.662-808T>C intron variant NM_001408433.1:c.662-808T>C intron variant NM_001408434.1:c.662-808T>C intron variant NM_001408435.1:c.662-808T>C intron variant NM_001408436.1:c.665-808T>C intron variant NM_001408437.1:c.665-808T>C intron variant NM_001408438.1:c.665-808T>C intron variant NM_001408439.1:c.665-808T>C intron variant NM_001408440.1:c.665-808T>C intron variant NM_001408441.1:c.665-808T>C intron variant NM_001408442.1:c.665-808T>C intron variant NM_001408443.1:c.665-808T>C intron variant NM_001408444.1:c.665-808T>C intron variant NM_001408445.1:c.662-808T>C intron variant NM_001408446.1:c.662-808T>C intron variant NM_001408447.1:c.662-808T>C intron variant NM_001408448.1:c.662-808T>C intron variant NM_001408450.1:c.662-808T>C intron variant NM_001408451.1:c.653-808T>C intron variant NM_001408452.1:c.647-808T>C intron variant NM_001408453.1:c.647-808T>C intron variant NM_001408454.1:c.647-808T>C intron variant NM_001408455.1:c.647-808T>C intron variant NM_001408456.1:c.647-808T>C intron variant NM_001408457.1:c.647-808T>C intron variant NM_001408458.1:c.647-808T>C intron variant NM_001408459.1:c.647-808T>C intron variant NM_001408460.1:c.647-808T>C intron variant NM_001408461.1:c.647-808T>C intron variant NM_001408462.1:c.644-808T>C intron variant NM_001408463.1:c.644-808T>C intron variant NM_001408464.1:c.644-808T>C intron variant NM_001408465.1:c.644-808T>C intron variant NM_001408466.1:c.647-808T>C intron variant NM_001408467.1:c.647-808T>C intron variant NM_001408468.1:c.644-808T>C intron variant NM_001408469.1:c.647-808T>C intron variant NM_001408470.1:c.644-808T>C intron variant NM_001408472.1:c.788-808T>C intron variant NM_001408473.1:c.785-808T>C intron variant NM_001408474.1:c.587-808T>C intron variant NM_001408475.1:c.584-808T>C intron variant NM_001408476.1:c.587-808T>C intron variant NM_001408478.1:c.578-808T>C intron variant NM_001408479.1:c.578-808T>C intron variant NM_001408480.1:c.578-808T>C intron variant NM_001408481.1:c.578-808T>C intron variant NM_001408482.1:c.578-808T>C intron variant NM_001408483.1:c.578-808T>C intron variant NM_001408484.1:c.578-808T>C intron variant NM_001408485.1:c.578-808T>C intron variant NM_001408489.1:c.578-808T>C intron variant NM_001408490.1:c.575-808T>C intron variant NM_001408491.1:c.575-808T>C intron variant NM_001408492.1:c.578-808T>C intron variant NM_001408493.1:c.575-808T>C intron variant NM_001408494.1:c.548-808T>C intron variant NM_001408495.1:c.545-808T>C intron variant NM_001408496.1:c.524-808T>C intron variant NM_001408497.1:c.524-808T>C intron variant NM_001408498.1:c.524-808T>C intron variant NM_001408499.1:c.524-808T>C intron variant NM_001408500.1:c.524-808T>C intron variant NM_001408501.1:c.524-808T>C intron variant NM_001408502.1:c.455-808T>C intron variant NM_001408503.1:c.521-808T>C intron variant NM_001408504.1:c.521-808T>C intron variant NM_001408505.1:c.521-808T>C intron variant NM_001408506.1:c.461-808T>C intron variant NM_001408507.1:c.461-808T>C intron variant NM_001408508.1:c.452-808T>C intron variant NM_001408509.1:c.452-808T>C intron variant NM_001408510.1:c.407-808T>C intron variant NM_001408511.1:c.404-808T>C intron variant NM_001408512.1:c.284-808T>C intron variant NM_001408513.1:c.578-808T>C intron variant NM_001408514.1:c.578-808T>C intron variant NM_007297.4:c.3550T>C NP_009228.2:p.Phe1184Leu missense NM_007298.4:c.788-808T>C intron variant NM_007299.4:c.788-808T>C intron variant NM_007300.4:c.3691T>C NP_009231.2:p.Phe1231Leu missense NR_027676.1:n.3827T>C NC_000017.11:g.43091840A>G NC_000017.10:g.41243857A>G NG_005905.2:g.126144T>C NG_087068.1:g.822A>G LRG_292:g.126144T>C LRG_292t1:c.3691T>C LRG_292p1:p.Phe1231Leu U14680.1:n.3810T>C - Protein change
- F1231L, F1184L, F1104L, F1143L, F1160L, F1190L, F363L, F935L, F1063L, F1103L, F1142L, F1161L, F1164L, F1189L, F1228L, F1230L, F1119L, F1163L, F1205L, F1120L, F1183L, F1204L
- Other names
- p.F1231L:TTT>CTT
- 3810T>C
- Canonical SPDI
- NC_000017.11:43091839:A:G
-
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.
-
0.00040 (G)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00016
1000 Genomes Project 30x 0.00031
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
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 |
13037 | 14843 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
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. |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
no assertion criteria provided
|
Feb 25, 2010 | RCV000031122.12 | |
Likely benign (1) |
criteria provided, single submitter
|
May 21, 2024 | RCV000048282.12 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV000131521.10 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Jan 28, 2024 | RCV000195391.17 | |
Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 6, 2023 | RCV001281713.6 | |
BRCA1-related disorder
|
Likely benign (1) |
no assertion criteria provided
|
Mar 21, 2019 | RCV004554626.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Uncertain significance
(Jul 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV000839250.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
|
|
Likely benign
(Jan 28, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076295.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
|
|
Benign
(Feb 24, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000902939.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
Uncertain significance
(Nov 01, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538229.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA1 c.3691T>C (p.F1231L) variant has been reported in heterozygosity in at least two individuals with breast cancer (PMID: 26287763, 30400234). This variant was observed … (more)
The BRCA1 c.3691T>C (p.F1231L) variant has been reported in heterozygosity in at least two individuals with breast cancer (PMID: 26287763, 30400234). This variant was observed in 9/24974 chromosomes in the African/African American subpopulation in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID: 37541). Functional studies have not been performed, and in silico predictions of the variant's effect on protein function are inconclusive. The evidence is insufficient to meet ACMG/AMP criteria for classifying the variant as benign or pathogenic. Thus, the clinical significance of this variant is currently uncertain. (less)
|
|
|
Likely benign
(Dec 20, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000209955.8
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 25348012, 26295337, 23704879, 15385441, 28873162, 30400234)
|
|
Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003851437.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
|
Likely benign
(Feb 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296415.4
First in ClinVar: May 27, 2015 Last updated: Jan 06, 2024 |
|
|
Benign
(Nov 18, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186515.7
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
Likely benign
(May 21, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699058.5
First in ClinVar: Mar 17, 2018 Last updated: Aug 11, 2024 |
Comment:
Variant summary: BRCA1 c.3691T>C (p.Phe1231Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.3691T>C (p.Phe1231Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 251286 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant was also observed in two individuals in the Flossies database. c.3691T>C has been reported in the literature in individuals affected with breast cancer (e.g. Pal_2015, Zabala_2018, Guindalini_2022). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Co-occurrence with a pathogenic variant has been observed in our lab (BRCA2 c.518delG, p.Gly173ValfsX12), providing supporting evidence for a benign role.To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 26287763, 30400234, 35264596). ClinVar contains an entry for this variant (Variation ID: 37541). Based on the evidence outlined above, the variant was classified as likely benign. (less)
|
|
Benign
(Feb 25, 2010)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053720.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
|
|
Uncertain significance
(Dec 23, 2003)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144836.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: African
|
|
Likely benign
(Mar 21, 2019)
|
no assertion criteria provided
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004760470.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
|
click to load more click to collapse |
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 |
---|---|---|---|---|
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing. | Guindalini RSC | Scientific reports | 2022 | PMID: 35264596 |
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico. | Diaz-Zabala HJ | Cancers | 2018 | PMID: 30400234 |
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. | Mandelker D | JAMA | 2017 | PMID: 28873162 |
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory. | Strom CM | PloS one | 2015 | PMID: 26295337 |
A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. | Pal T | Cancer | 2015 | PMID: 26287763 |
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. | Martelotto LG | Genome biology | 2014 | PMID: 25348012 |
Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. | Tram E | PloS one | 2013 | PMID: 23704879 |
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. | Pavlicek A | Human molecular genetics | 2004 | PMID: 15385441 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Text-mined citations for rs41293451 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.