ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
Variation ID: 41818 Accession: VCV000041818.85
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091983 (GRCh38) [ NCBI UCSC ] 17: 41244000 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 12, 2013 Feb 20, 2024 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3548A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1183Arg missense NM_001407571.1:c.3335A>G NP_001394500.1:p.Lys1112Arg missense NM_001407581.1:c.3548A>G NP_001394510.1:p.Lys1183Arg missense NM_001407582.1:c.3548A>G NP_001394511.1:p.Lys1183Arg missense NM_001407583.1:c.3548A>G NP_001394512.1:p.Lys1183Arg missense NM_001407585.1:c.3548A>G NP_001394514.1:p.Lys1183Arg missense NM_001407587.1:c.3545A>G NP_001394516.1:p.Lys1182Arg missense NM_001407590.1:c.3545A>G NP_001394519.1:p.Lys1182Arg missense NM_001407591.1:c.3545A>G NP_001394520.1:p.Lys1182Arg missense NM_001407593.1:c.3548A>G NP_001394522.1:p.Lys1183Arg missense NM_001407594.1:c.3548A>G NP_001394523.1:p.Lys1183Arg missense NM_001407596.1:c.3548A>G NP_001394525.1:p.Lys1183Arg missense NM_001407597.1:c.3548A>G NP_001394526.1:p.Lys1183Arg missense NM_001407598.1:c.3548A>G NP_001394527.1:p.Lys1183Arg missense NM_001407602.1:c.3548A>G NP_001394531.1:p.Lys1183Arg missense NM_001407603.1:c.3548A>G NP_001394532.1:p.Lys1183Arg missense NM_001407605.1:c.3548A>G NP_001394534.1:p.Lys1183Arg missense NM_001407610.1:c.3545A>G NP_001394539.1:p.Lys1182Arg missense NM_001407611.1:c.3545A>G NP_001394540.1:p.Lys1182Arg missense NM_001407612.1:c.3545A>G NP_001394541.1:p.Lys1182Arg missense NM_001407613.1:c.3545A>G NP_001394542.1:p.Lys1182Arg missense NM_001407614.1:c.3545A>G NP_001394543.1:p.Lys1182Arg missense NM_001407615.1:c.3545A>G NP_001394544.1:p.Lys1182Arg missense NM_001407616.1:c.3548A>G NP_001394545.1:p.Lys1183Arg missense NM_001407617.1:c.3548A>G NP_001394546.1:p.Lys1183Arg missense NM_001407618.1:c.3548A>G NP_001394547.1:p.Lys1183Arg missense NM_001407619.1:c.3548A>G NP_001394548.1:p.Lys1183Arg missense NM_001407620.1:c.3548A>G NP_001394549.1:p.Lys1183Arg missense NM_001407621.1:c.3548A>G NP_001394550.1:p.Lys1183Arg missense NM_001407622.1:c.3548A>G NP_001394551.1:p.Lys1183Arg missense NM_001407623.1:c.3548A>G NP_001394552.1:p.Lys1183Arg missense NM_001407624.1:c.3548A>G NP_001394553.1:p.Lys1183Arg missense NM_001407625.1:c.3548A>G NP_001394554.1:p.Lys1183Arg missense NM_001407626.1:c.3548A>G NP_001394555.1:p.Lys1183Arg missense NM_001407627.1:c.3545A>G NP_001394556.1:p.Lys1182Arg missense NM_001407628.1:c.3545A>G NP_001394557.1:p.Lys1182Arg missense NM_001407629.1:c.3545A>G NP_001394558.1:p.Lys1182Arg missense NM_001407630.1:c.3545A>G NP_001394559.1:p.Lys1182Arg missense NM_001407631.1:c.3545A>G NP_001394560.1:p.Lys1182Arg missense NM_001407632.1:c.3545A>G NP_001394561.1:p.Lys1182Arg missense NM_001407633.1:c.3545A>G NP_001394562.1:p.Lys1182Arg missense NM_001407634.1:c.3545A>G NP_001394563.1:p.Lys1182Arg missense NM_001407635.1:c.3545A>G NP_001394564.1:p.Lys1182Arg missense NM_001407636.1:c.3545A>G NP_001394565.1:p.Lys1182Arg missense NM_001407637.1:c.3545A>G NP_001394566.1:p.Lys1182Arg missense NM_001407638.1:c.3545A>G NP_001394567.1:p.Lys1182Arg missense NM_001407639.1:c.3548A>G NP_001394568.1:p.Lys1183Arg missense NM_001407640.1:c.3548A>G NP_001394569.1:p.Lys1183Arg missense NM_001407641.1:c.3548A>G NP_001394570.1:p.Lys1183Arg missense NM_001407642.1:c.3548A>G NP_001394571.1:p.Lys1183Arg missense NM_001407644.1:c.3545A>G NP_001394573.1:p.Lys1182Arg missense NM_001407645.1:c.3545A>G NP_001394574.1:p.Lys1182Arg missense NM_001407646.1:c.3539A>G NP_001394575.1:p.Lys1180Arg missense NM_001407647.1:c.3539A>G NP_001394576.1:p.Lys1180Arg missense NM_001407648.1:c.3425A>G NP_001394577.1:p.Lys1142Arg missense NM_001407649.1:c.3422A>G NP_001394578.1:p.Lys1141Arg missense NM_001407652.1:c.3548A>G NP_001394581.1:p.Lys1183Arg missense NM_001407653.1:c.3470A>G NP_001394582.1:p.Lys1157Arg missense NM_001407654.1:c.3470A>G NP_001394583.1:p.Lys1157Arg missense NM_001407655.1:c.3470A>G NP_001394584.1:p.Lys1157Arg missense NM_001407656.1:c.3470A>G NP_001394585.1:p.Lys1157Arg missense NM_001407657.1:c.3470A>G NP_001394586.1:p.Lys1157Arg missense NM_001407658.1:c.3470A>G NP_001394587.1:p.Lys1157Arg missense NM_001407659.1:c.3467A>G NP_001394588.1:p.Lys1156Arg missense NM_001407660.1:c.3467A>G NP_001394589.1:p.Lys1156Arg missense NM_001407661.1:c.3467A>G NP_001394590.1:p.Lys1156Arg missense NM_001407662.1:c.3467A>G NP_001394591.1:p.Lys1156Arg missense NM_001407663.1:c.3470A>G NP_001394592.1:p.Lys1157Arg missense NM_001407664.1:c.3425A>G NP_001394593.1:p.Lys1142Arg missense NM_001407665.1:c.3425A>G NP_001394594.1:p.Lys1142Arg missense NM_001407666.1:c.3425A>G NP_001394595.1:p.Lys1142Arg missense NM_001407667.1:c.3425A>G NP_001394596.1:p.Lys1142Arg missense NM_001407668.1:c.3425A>G NP_001394597.1:p.Lys1142Arg missense NM_001407669.1:c.3425A>G NP_001394598.1:p.Lys1142Arg missense NM_001407670.1:c.3422A>G NP_001394599.1:p.Lys1141Arg missense NM_001407671.1:c.3422A>G NP_001394600.1:p.Lys1141Arg missense NM_001407672.1:c.3422A>G NP_001394601.1:p.Lys1141Arg missense NM_001407673.1:c.3422A>G NP_001394602.1:p.Lys1141Arg missense NM_001407674.1:c.3425A>G NP_001394603.1:p.Lys1142Arg missense NM_001407675.1:c.3425A>G NP_001394604.1:p.Lys1142Arg missense NM_001407676.1:c.3425A>G NP_001394605.1:p.Lys1142Arg missense NM_001407677.1:c.3425A>G NP_001394606.1:p.Lys1142Arg missense NM_001407678.1:c.3425A>G NP_001394607.1:p.Lys1142Arg missense NM_001407679.1:c.3425A>G NP_001394608.1:p.Lys1142Arg missense NM_001407680.1:c.3425A>G NP_001394609.1:p.Lys1142Arg missense NM_001407681.1:c.3425A>G NP_001394610.1:p.Lys1142Arg missense NM_001407682.1:c.3425A>G NP_001394611.1:p.Lys1142Arg missense NM_001407683.1:c.3425A>G NP_001394612.1:p.Lys1142Arg missense NM_001407684.1:c.3548A>G NP_001394613.1:p.Lys1183Arg missense NM_001407685.1:c.3422A>G NP_001394614.1:p.Lys1141Arg missense NM_001407686.1:c.3422A>G NP_001394615.1:p.Lys1141Arg missense NM_001407687.1:c.3422A>G NP_001394616.1:p.Lys1141Arg missense NM_001407688.1:c.3422A>G NP_001394617.1:p.Lys1141Arg missense NM_001407689.1:c.3422A>G NP_001394618.1:p.Lys1141Arg missense NM_001407690.1:c.3422A>G NP_001394619.1:p.Lys1141Arg missense NM_001407691.1:c.3422A>G NP_001394620.1:p.Lys1141Arg missense NM_001407692.1:c.3407A>G NP_001394621.1:p.Lys1136Arg missense NM_001407694.1:c.3407A>G NP_001394623.1:p.Lys1136Arg missense NM_001407695.1:c.3407A>G NP_001394624.1:p.Lys1136Arg missense NM_001407696.1:c.3407A>G NP_001394625.1:p.Lys1136Arg missense NM_001407697.1:c.3407A>G NP_001394626.1:p.Lys1136Arg missense NM_001407698.1:c.3407A>G NP_001394627.1:p.Lys1136Arg missense NM_001407724.1:c.3407A>G NP_001394653.1:p.Lys1136Arg missense NM_001407725.1:c.3407A>G NP_001394654.1:p.Lys1136Arg missense NM_001407726.1:c.3407A>G NP_001394655.1:p.Lys1136Arg missense NM_001407727.1:c.3407A>G NP_001394656.1:p.Lys1136Arg missense NM_001407728.1:c.3407A>G NP_001394657.1:p.Lys1136Arg missense NM_001407729.1:c.3407A>G NP_001394658.1:p.Lys1136Arg missense NM_001407730.1:c.3407A>G NP_001394659.1:p.Lys1136Arg missense NM_001407731.1:c.3407A>G NP_001394660.1:p.Lys1136Arg missense NM_001407732.1:c.3407A>G NP_001394661.1:p.Lys1136Arg missense NM_001407733.1:c.3407A>G NP_001394662.1:p.Lys1136Arg missense NM_001407734.1:c.3407A>G NP_001394663.1:p.Lys1136Arg missense NM_001407735.1:c.3407A>G NP_001394664.1:p.Lys1136Arg missense NM_001407736.1:c.3407A>G NP_001394665.1:p.Lys1136Arg missense NM_001407737.1:c.3407A>G NP_001394666.1:p.Lys1136Arg missense NM_001407738.1:c.3407A>G NP_001394667.1:p.Lys1136Arg missense NM_001407739.1:c.3407A>G NP_001394668.1:p.Lys1136Arg missense NM_001407740.1:c.3404A>G NP_001394669.1:p.Lys1135Arg missense NM_001407741.1:c.3404A>G NP_001394670.1:p.Lys1135Arg missense NM_001407742.1:c.3404A>G NP_001394671.1:p.Lys1135Arg missense NM_001407743.1:c.3404A>G NP_001394672.1:p.Lys1135Arg missense NM_001407744.1:c.3404A>G NP_001394673.1:p.Lys1135Arg missense NM_001407745.1:c.3404A>G NP_001394674.1:p.Lys1135Arg missense NM_001407746.1:c.3404A>G NP_001394675.1:p.Lys1135Arg missense NM_001407747.1:c.3404A>G NP_001394676.1:p.Lys1135Arg missense NM_001407748.1:c.3404A>G NP_001394677.1:p.Lys1135Arg missense NM_001407749.1:c.3404A>G NP_001394678.1:p.Lys1135Arg missense NM_001407750.1:c.3407A>G NP_001394679.1:p.Lys1136Arg missense NM_001407751.1:c.3407A>G NP_001394680.1:p.Lys1136Arg missense NM_001407752.1:c.3407A>G NP_001394681.1:p.Lys1136Arg missense NM_001407838.1:c.3404A>G NP_001394767.1:p.Lys1135Arg missense NM_001407839.1:c.3404A>G NP_001394768.1:p.Lys1135Arg missense NM_001407841.1:c.3404A>G NP_001394770.1:p.Lys1135Arg missense NM_001407842.1:c.3404A>G NP_001394771.1:p.Lys1135Arg missense NM_001407843.1:c.3404A>G NP_001394772.1:p.Lys1135Arg missense NM_001407844.1:c.3404A>G NP_001394773.1:p.Lys1135Arg missense NM_001407845.1:c.3404A>G NP_001394774.1:p.Lys1135Arg missense NM_001407846.1:c.3404A>G NP_001394775.1:p.Lys1135Arg missense NM_001407847.1:c.3404A>G NP_001394776.1:p.Lys1135Arg missense NM_001407848.1:c.3404A>G NP_001394777.1:p.Lys1135Arg missense NM_001407849.1:c.3404A>G NP_001394778.1:p.Lys1135Arg missense NM_001407850.1:c.3407A>G NP_001394779.1:p.Lys1136Arg missense NM_001407851.1:c.3407A>G NP_001394780.1:p.Lys1136Arg missense NM_001407852.1:c.3407A>G NP_001394781.1:p.Lys1136Arg missense NM_001407853.1:c.3335A>G NP_001394782.1:p.Lys1112Arg missense NM_001407854.1:c.3548A>G NP_001394783.1:p.Lys1183Arg missense NM_001407858.1:c.3548A>G NP_001394787.1:p.Lys1183Arg missense NM_001407859.1:c.3548A>G NP_001394788.1:p.Lys1183Arg missense NM_001407860.1:c.3545A>G NP_001394789.1:p.Lys1182Arg missense NM_001407861.1:c.3545A>G NP_001394790.1:p.Lys1182Arg missense NM_001407862.1:c.3347A>G NP_001394791.1:p.Lys1116Arg missense NM_001407863.1:c.3425A>G NP_001394792.1:p.Lys1142Arg missense NM_001407874.1:c.3344A>G NP_001394803.1:p.Lys1115Arg missense NM_001407875.1:c.3344A>G NP_001394804.1:p.Lys1115Arg missense NM_001407879.1:c.3338A>G NP_001394808.1:p.Lys1113Arg missense NM_001407881.1:c.3338A>G NP_001394810.1:p.Lys1113Arg missense NM_001407882.1:c.3338A>G NP_001394811.1:p.Lys1113Arg missense NM_001407884.1:c.3338A>G NP_001394813.1:p.Lys1113Arg missense NM_001407885.1:c.3338A>G NP_001394814.1:p.Lys1113Arg missense NM_001407886.1:c.3338A>G NP_001394815.1:p.Lys1113Arg missense NM_001407887.1:c.3338A>G NP_001394816.1:p.Lys1113Arg missense NM_001407889.1:c.3338A>G NP_001394818.1:p.Lys1113Arg missense NM_001407894.1:c.3335A>G NP_001394823.1:p.Lys1112Arg missense NM_001407895.1:c.3335A>G NP_001394824.1:p.Lys1112Arg missense NM_001407896.1:c.3335A>G NP_001394825.1:p.Lys1112Arg missense NM_001407897.1:c.3335A>G NP_001394826.1:p.Lys1112Arg missense NM_001407898.1:c.3335A>G NP_001394827.1:p.Lys1112Arg missense NM_001407899.1:c.3335A>G NP_001394828.1:p.Lys1112Arg missense NM_001407900.1:c.3338A>G NP_001394829.1:p.Lys1113Arg missense NM_001407902.1:c.3338A>G NP_001394831.1:p.Lys1113Arg missense NM_001407904.1:c.3338A>G NP_001394833.1:p.Lys1113Arg missense NM_001407906.1:c.3338A>G NP_001394835.1:p.Lys1113Arg missense NM_001407907.1:c.3338A>G NP_001394836.1:p.Lys1113Arg missense NM_001407908.1:c.3338A>G NP_001394837.1:p.Lys1113Arg missense NM_001407909.1:c.3338A>G NP_001394838.1:p.Lys1113Arg missense NM_001407910.1:c.3338A>G NP_001394839.1:p.Lys1113Arg missense NM_001407915.1:c.3335A>G NP_001394844.1:p.Lys1112Arg missense NM_001407916.1:c.3335A>G NP_001394845.1:p.Lys1112Arg missense NM_001407917.1:c.3335A>G NP_001394846.1:p.Lys1112Arg missense NM_001407918.1:c.3335A>G NP_001394847.1:p.Lys1112Arg missense NM_001407919.1:c.3425A>G NP_001394848.1:p.Lys1142Arg missense NM_001407920.1:c.3284A>G NP_001394849.1:p.Lys1095Arg missense NM_001407921.1:c.3284A>G NP_001394850.1:p.Lys1095Arg missense NM_001407922.1:c.3284A>G NP_001394851.1:p.Lys1095Arg missense NM_001407923.1:c.3284A>G NP_001394852.1:p.Lys1095Arg missense NM_001407924.1:c.3284A>G NP_001394853.1:p.Lys1095Arg missense NM_001407925.1:c.3284A>G NP_001394854.1:p.Lys1095Arg missense NM_001407926.1:c.3284A>G NP_001394855.1:p.Lys1095Arg missense NM_001407927.1:c.3284A>G NP_001394856.1:p.Lys1095Arg missense NM_001407928.1:c.3284A>G NP_001394857.1:p.Lys1095Arg missense NM_001407929.1:c.3284A>G NP_001394858.1:p.Lys1095Arg missense NM_001407930.1:c.3281A>G NP_001394859.1:p.Lys1094Arg missense NM_001407931.1:c.3281A>G NP_001394860.1:p.Lys1094Arg missense NM_001407932.1:c.3281A>G NP_001394861.1:p.Lys1094Arg missense NM_001407933.1:c.3284A>G NP_001394862.1:p.Lys1095Arg missense NM_001407934.1:c.3281A>G NP_001394863.1:p.Lys1094Arg missense NM_001407935.1:c.3284A>G NP_001394864.1:p.Lys1095Arg missense NM_001407936.1:c.3281A>G NP_001394865.1:p.Lys1094Arg missense NM_001407937.1:c.3425A>G NP_001394866.1:p.Lys1142Arg missense NM_001407938.1:c.3425A>G NP_001394867.1:p.Lys1142Arg missense NM_001407939.1:c.3425A>G NP_001394868.1:p.Lys1142Arg missense NM_001407940.1:c.3422A>G NP_001394869.1:p.Lys1141Arg missense NM_001407941.1:c.3422A>G NP_001394870.1:p.Lys1141Arg missense NM_001407942.1:c.3407A>G NP_001394871.1:p.Lys1136Arg missense NM_001407943.1:c.3404A>G NP_001394872.1:p.Lys1135Arg missense NM_001407944.1:c.3407A>G NP_001394873.1:p.Lys1136Arg missense NM_001407945.1:c.3407A>G NP_001394874.1:p.Lys1136Arg missense NM_001407946.1:c.3215A>G NP_001394875.1:p.Lys1072Arg missense NM_001407947.1:c.3215A>G NP_001394876.1:p.Lys1072Arg missense NM_001407948.1:c.3215A>G NP_001394877.1:p.Lys1072Arg missense NM_001407949.1:c.3215A>G NP_001394878.1:p.Lys1072Arg missense NM_001407950.1:c.3215A>G NP_001394879.1:p.Lys1072Arg missense NM_001407951.1:c.3215A>G NP_001394880.1:p.Lys1072Arg missense NM_001407952.1:c.3215A>G NP_001394881.1:p.Lys1072Arg missense NM_001407953.1:c.3215A>G NP_001394882.1:p.Lys1072Arg missense NM_001407954.1:c.3212A>G NP_001394883.1:p.Lys1071Arg missense NM_001407955.1:c.3212A>G NP_001394884.1:p.Lys1071Arg missense NM_001407956.1:c.3212A>G NP_001394885.1:p.Lys1071Arg missense NM_001407957.1:c.3215A>G NP_001394886.1:p.Lys1072Arg missense NM_001407958.1:c.3212A>G NP_001394887.1:p.Lys1071Arg missense NM_001407959.1:c.3167A>G NP_001394888.1:p.Lys1056Arg missense NM_001407960.1:c.3167A>G NP_001394889.1:p.Lys1056Arg missense NM_001407962.1:c.3164A>G NP_001394891.1:p.Lys1055Arg missense NM_001407963.1:c.3167A>G NP_001394892.1:p.Lys1056Arg missense NM_001407964.1:c.3404A>G NP_001394893.1:p.Lys1135Arg missense NM_001407965.1:c.3044A>G NP_001394894.1:p.Lys1015Arg missense NM_001407966.1:c.2660A>G NP_001394895.1:p.Lys887Arg missense NM_001407967.1:c.2660A>G NP_001394896.1:p.Lys887Arg missense NM_001407968.1:c.944A>G NP_001394897.1:p.Lys315Arg missense NM_001407969.1:c.944A>G NP_001394898.1:p.Lys315Arg missense NM_001407970.1:c.788-951A>G intron variant NM_001407971.1:c.788-951A>G intron variant NM_001407972.1:c.785-951A>G intron variant NM_001407973.1:c.788-951A>G intron variant NM_001407974.1:c.788-951A>G intron variant NM_001407975.1:c.788-951A>G intron variant NM_001407976.1:c.788-951A>G intron variant NM_001407977.1:c.788-951A>G intron variant NM_001407978.1:c.788-951A>G intron variant NM_001407979.1:c.788-951A>G intron variant NM_001407980.1:c.788-951A>G intron variant NM_001407981.1:c.788-951A>G intron variant NM_001407982.1:c.788-951A>G intron variant NM_001407983.1:c.788-951A>G intron variant NM_001407984.1:c.785-951A>G intron variant NM_001407985.1:c.785-951A>G intron variant NM_001407986.1:c.785-951A>G intron variant NM_001407990.1:c.788-951A>G intron variant NM_001407991.1:c.785-951A>G intron variant NM_001407992.1:c.785-951A>G intron variant NM_001407993.1:c.788-951A>G intron variant NM_001408392.1:c.785-951A>G intron variant NM_001408396.1:c.785-951A>G intron variant NM_001408397.1:c.785-951A>G intron variant NM_001408398.1:c.785-951A>G intron variant NM_001408399.1:c.785-951A>G intron variant NM_001408400.1:c.785-951A>G intron variant NM_001408401.1:c.785-951A>G intron variant NM_001408402.1:c.785-951A>G intron variant NM_001408403.1:c.788-951A>G intron variant NM_001408404.1:c.788-951A>G intron variant NM_001408406.1:c.791-960A>G intron variant NM_001408407.1:c.785-951A>G intron variant NM_001408408.1:c.779-951A>G intron variant NM_001408409.1:c.710-951A>G intron variant NM_001408410.1:c.647-951A>G intron variant NM_001408411.1:c.710-951A>G intron variant NM_001408412.1:c.710-951A>G intron variant NM_001408413.1:c.707-951A>G intron variant NM_001408414.1:c.710-951A>G intron variant NM_001408415.1:c.710-951A>G intron variant NM_001408416.1:c.707-951A>G intron variant NM_001408418.1:c.671-951A>G intron variant NM_001408419.1:c.671-951A>G intron variant NM_001408420.1:c.671-951A>G intron variant NM_001408421.1:c.668-951A>G intron variant NM_001408422.1:c.671-951A>G intron variant NM_001408423.1:c.671-951A>G intron variant NM_001408424.1:c.668-951A>G intron variant NM_001408425.1:c.665-951A>G intron variant NM_001408426.1:c.665-951A>G intron variant NM_001408427.1:c.665-951A>G intron variant NM_001408428.1:c.665-951A>G intron variant NM_001408429.1:c.665-951A>G intron variant NM_001408430.1:c.665-951A>G intron variant NM_001408431.1:c.668-951A>G intron variant NM_001408432.1:c.662-951A>G intron variant NM_001408433.1:c.662-951A>G intron variant NM_001408434.1:c.662-951A>G intron variant NM_001408435.1:c.662-951A>G intron variant NM_001408436.1:c.665-951A>G intron variant NM_001408437.1:c.665-951A>G intron variant NM_001408438.1:c.665-951A>G intron variant NM_001408439.1:c.665-951A>G intron variant NM_001408440.1:c.665-951A>G intron variant NM_001408441.1:c.665-951A>G intron variant NM_001408442.1:c.665-951A>G intron variant NM_001408443.1:c.665-951A>G intron variant NM_001408444.1:c.665-951A>G intron variant NM_001408445.1:c.662-951A>G intron variant NM_001408446.1:c.662-951A>G intron variant NM_001408447.1:c.662-951A>G intron variant NM_001408448.1:c.662-951A>G intron variant NM_001408450.1:c.662-951A>G intron variant NM_001408451.1:c.653-951A>G intron variant NM_001408452.1:c.647-951A>G intron variant NM_001408453.1:c.647-951A>G intron variant NM_001408454.1:c.647-951A>G intron variant NM_001408455.1:c.647-951A>G intron variant NM_001408456.1:c.647-951A>G intron variant NM_001408457.1:c.647-951A>G intron variant NM_001408458.1:c.647-951A>G intron variant NM_001408459.1:c.647-951A>G intron variant NM_001408460.1:c.647-951A>G intron variant NM_001408461.1:c.647-951A>G intron variant NM_001408462.1:c.644-951A>G intron variant NM_001408463.1:c.644-951A>G intron variant NM_001408464.1:c.644-951A>G intron variant NM_001408465.1:c.644-951A>G intron variant NM_001408466.1:c.647-951A>G intron variant NM_001408467.1:c.647-951A>G intron variant NM_001408468.1:c.644-951A>G intron variant NM_001408469.1:c.647-951A>G intron variant NM_001408470.1:c.644-951A>G intron variant NM_001408472.1:c.788-951A>G intron variant NM_001408473.1:c.785-951A>G intron variant NM_001408474.1:c.587-951A>G intron variant NM_001408475.1:c.584-951A>G intron variant NM_001408476.1:c.587-951A>G intron variant NM_001408478.1:c.578-951A>G intron variant NM_001408479.1:c.578-951A>G intron variant NM_001408480.1:c.578-951A>G intron variant NM_001408481.1:c.578-951A>G intron variant NM_001408482.1:c.578-951A>G intron variant NM_001408483.1:c.578-951A>G intron variant NM_001408484.1:c.578-951A>G intron variant NM_001408485.1:c.578-951A>G intron variant NM_001408489.1:c.578-951A>G intron variant NM_001408490.1:c.575-951A>G intron variant NM_001408491.1:c.575-951A>G intron variant NM_001408492.1:c.578-951A>G intron variant NM_001408493.1:c.575-951A>G intron variant NM_001408494.1:c.548-951A>G intron variant NM_001408495.1:c.545-951A>G intron variant NM_001408496.1:c.524-951A>G intron variant NM_001408497.1:c.524-951A>G intron variant NM_001408498.1:c.524-951A>G intron variant NM_001408499.1:c.524-951A>G intron variant NM_001408500.1:c.524-951A>G intron variant NM_001408501.1:c.524-951A>G intron variant NM_001408502.1:c.455-951A>G intron variant NM_001408503.1:c.521-951A>G intron variant NM_001408504.1:c.521-951A>G intron variant NM_001408505.1:c.521-951A>G intron variant NM_001408506.1:c.461-951A>G intron variant NM_001408507.1:c.461-951A>G intron variant NM_001408508.1:c.452-951A>G intron variant NM_001408509.1:c.452-951A>G intron variant NM_001408510.1:c.407-951A>G intron variant NM_001408511.1:c.404-951A>G intron variant NM_001408512.1:c.284-951A>G intron variant NM_001408513.1:c.578-951A>G intron variant NM_001408514.1:c.578-951A>G intron variant NM_007297.4:c.3407A>G NP_009228.2:p.Lys1136Arg missense NM_007298.4:c.788-951A>G intron variant NM_007299.4:c.788-951A>G intron variant NM_007300.4:c.3548A>G NP_009231.2:p.Lys1183Arg missense NR_027676.1:n.3684A>G NC_000017.11:g.43091983T>C NC_000017.10:g.41244000T>C NG_005905.2:g.126001A>G NG_087068.1:g.965T>C LRG_292:g.126001A>G LRG_292t1:c.3548A>G LRG_292p1:p.Lys1183Arg P38398:p.Lys1183Arg U14680.1:n.3667A>G - Protein change
- K1183R, K1136R, K1056R, K1113R, K1115R, K1182R, K1055R, K1141R, K1015R, K1072R, K1094R, K1095R, K1116R, K1157R, K315R, K887R, K1071R, K1112R, K1135R, K1142R, K1156R, K1180R
- Other names
- 3667A>G
- Canonical SPDI
- NC_000017.11:43091982:T:C
-
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.
-
0.35264 (C)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.30134
The Genome Aggregation Database (gnomAD) 0.30784
1000 Genomes Project 30x 0.34681
Exome Aggregation Consortium (ExAC) 0.34900
1000 Genomes Project 0.35264
The Genome Aggregation Database (gnomAD), exomes 0.35268
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.29525
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 |
12749 | 14510 | |
LOC126862571 | - | - | - | GRCh38 | - | 1613 |
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. |
---|---|---|---|---|
Benign (3) |
criteria provided, single submitter
|
Nov 29, 2023 | RCV000034742.27 | |
Benign (4) |
criteria provided, multiple submitters, no conflicts
|
Feb 1, 2024 | RCV000048229.25 | |
Benign (11) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000112115.24 | |
Benign (3) |
criteria provided, multiple submitters, no conflicts
|
Dec 11, 2019 | RCV000128991.14 | |
Benign (9) |
criteria provided, multiple submitters, no conflicts
|
Nov 1, 2017 | RCV000120278.33 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
May 3, 2020 | RCV000460753.12 | |
Benign (1) |
criteria provided, single submitter
|
Apr 22, 2019 | RCV000770891.9 | |
Benign (1) |
criteria provided, single submitter
|
May 6, 2022 | RCV002490466.8 |
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. |
|
---|---|---|---|---|---|
Benign
(Aug 10, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244342.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3562 (European), derived from 1000 genomes (2012-04-30). (less)
|
|
Benign
(Feb 23, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: no
Allele origin:
germline
|
Baylor Genetics
Accession: SCV000540957.1
First in ClinVar: Apr 17, 2017 Last updated: Apr 17, 2017 |
|
|
Benign
(Oct 09, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743405.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
|
Benign
(Jan 07, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000202266.7
First in ClinVar: Jan 29, 2015 Last updated: Feb 19, 2018 |
Number of individuals with the variant: 217
Sex: mixed
|
|
Benign
(Dec 19, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000605733.2
First in ClinVar: Sep 28, 2017 Last updated: Feb 19, 2018 |
Comment:
This variant is not expected to have clinical significance because it has been i dentified in 50% (8252/16506) of South Asian, including 2129 homozygotes, and … (more)
This variant is not expected to have clinical significance because it has been i dentified in 50% (8252/16506) of South Asian, including 2129 homozygotes, and 39 % (2602/66384) of European chromosomes, including 3592 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNPrs16942). I n addition, this variant was classified as benign on August 10, 2015 by the Clin Gen- approved ENIGMA expert panel (ClinVar SCV000244342.1) (less)
Number of individuals with the variant: 10
|
|
Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: no
Allele origin:
germline
|
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited
Accession: SCV002097602.1
First in ClinVar: Feb 20, 2022 Last updated: Feb 20, 2022 |
Sex: female
|
|
Benign
(Dec 11, 2019)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538216.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
|
|
Benign
(Jul 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004016741.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
|
|
Benign
(Nov 29, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602662.9
First in ClinVar: Sep 28, 2017 Last updated: Feb 20, 2024 |
|
|
Benign
(Nov 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000195921.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
|
|
Benign
(Nov 04, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000292080.1
First in ClinVar: Jul 08, 2016 Last updated: Jul 08, 2016 |
|
|
Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000311795.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
|
Benign
(Apr 19, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000586893.1 First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
|
|
Benign
(Nov 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneKor MSA
Accession: SCV000693612.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
|
|
Benign
(Sep 21, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744632.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
|
Benign
(Apr 22, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast carcinoma
Affected status: yes
Allele origin:
germline
|
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Faculty of Medicine Ramathibodi Hospital, Mahidol University
Accession: SCV000899177.1
First in ClinVar: May 12, 2019 Last updated: May 12, 2019 |
Sex: female
|
|
Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000403059.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
|
|
Benign
(May 03, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Affected status: yes
Allele origin:
unknown
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV001251942.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
|
|
Benign
(Apr 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002025955.2
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 638
Geographic origin: South Africa
|
|
Benign
(Nov 01, 2021)
|
criteria provided, single submitter
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515199.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
|
|
Benign
(Nov 13, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000172884.6
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
This alteration is classified as benign based on a combination of the following: 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)
Number of individuals with the variant: 1
|
|
Benign
(Dec 19, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000494319.2
First in ClinVar: Feb 04, 2017 Last updated: Dec 11, 2022 |
|
|
Benign
(Jan 02, 2014)
|
criteria provided, single submitter
Method: literature only
|
Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000154008.2
First in ClinVar: Jun 09, 2014 Last updated: Dec 24, 2022 |
Comment:
High frequency in a 1kG or ESP population: 32.4 %.
|
|
Benign
(May 06, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002802805.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076242.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
|
no known pathogenicity
(Jul 13, 2012)
|
no assertion criteria provided
Method: research
|
not provided
Affected status: no
Allele origin:
germline
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000043166.1 First in ClinVar: Apr 12, 2013 Last updated: Apr 12, 2013 |
Comment:
Converted during submission to Benign.
Number of individuals with the variant: 309
Comment on evidence:
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for details. (less)
|
|
Benign
(Mar 22, 2011)
|
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: SCV000189339.1
First in ClinVar: Sep 27, 2014 Last updated: Sep 27, 2014 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553628.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
#N/A
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001905718.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959074.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Benign
(Feb 20, 2004)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline,
unknown
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144787.2
First in ClinVar: Apr 01, 2014 Last updated: Sep 29, 2015 |
Observation 1:
Number of individuals with the variant: 7
Observation 2:
Number of individuals with the variant: 412
Geographic origin: American
Observation 3:
Number of individuals with the variant: 130
Geographic origin: Austria
Observation 4:
Number of individuals with the variant: 11
Geographic origin: Germany
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: African American
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: American
Observation 8:
Number of individuals with the variant: 4
Ethnicity/Population group: Caucasian
Geographic origin: Scottish
Observation 9:
Number of individuals with the variant: 11
Ethnicity/Population group: Caucasian
Geographic origin: Spain
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Switzerland
Observation 11:
Number of individuals with the variant: 2
Ethnicity/Population group: Greek
Geographic origin: Greece
Observation 12:
Number of individuals with the variant: 1
Ethnicity/Population group: Latino
Geographic origin: American
Observation 13:
Number of individuals with the variant: 2
Ethnicity/Population group: Asian
Geographic origin: India
Observation 14:
Number of individuals with the variant: 1
Ethnicity/Population group: Chinese
Geographic origin: Malaysia
Observation 15:
Number of individuals with the variant: 1
Ethnicity/Population group: Indian
Geographic origin: Malaysia
Observation 16:
Number of individuals with the variant: 1
Ethnicity/Population group: Malay
Geographic origin: Malaysia
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733625.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
|
Benign
(Oct 02, 2015)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000778745.1
First in ClinVar: Feb 24, 2015 Last updated: Feb 24, 2015 |
|
|
not provided
(Sep 19, 2013)
|
no classification provided
Method: reference population
|
AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000084430.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014 |
Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience. | Van der Merwe NC | Frontiers in genetics | 2022 | DOI: 10.3389/fgene.2022.834265 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. | Hondow HL | BMC cancer | 2011 | PMID: 21702907 |
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 |
BRCA1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from Apulia, Italy. | Tommasi S | Mutation research | 2005 | PMID: 16026807 |
BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy. | Stuppia L | Human mutation | 2003 | PMID: 12872265 |
Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. | Ladopoulou A | Cancer letters | 2002 | PMID: 12142080 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.3548A%3EG | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 | - | - | - | - |
Konstantopoulou et al, Hu Mut 2000 | - | - | - | - |
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Text-mined citations for rs16942 ...
HelpRecord last updated Apr 15, 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.