Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer)
Variation ID: 54157 Accession: VCV000054157.26
- Type and length
-
Microsatellite, 2 bp
- Location
-
Cytogenetic: 17q21.31 17: 43115742-43115743 (GRCh38) [ NCBI UCSC ] 17: 41267759-41267760 (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 Aug 25, 2024 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.117_118del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys39_Asp40delinsTer nonsense NM_001407571.1:c.-75_-74GT[1] NM_001407581.1:c.114_115GT[1] NP_001394510.1:p.Cys39Terfs frameshift nonsense NM_001407582.1:c.114_115GT[1] NP_001394511.1:p.Cys39Terfs frameshift nonsense NM_001407583.1:c.114_115GT[1] NP_001394512.1:p.Cys39Terfs frameshift nonsense NM_001407585.1:c.114_115GT[1] NP_001394514.1:p.Cys39Terfs frameshift nonsense NM_001407587.1:c.114_115GT[1] NP_001394516.1:p.Cys39Terfs frameshift nonsense NM_001407590.1:c.114_115GT[1] NP_001394519.1:p.Cys39Terfs frameshift nonsense NM_001407591.1:c.114_115GT[1] NP_001394520.1:p.Cys39Terfs frameshift nonsense NM_001407593.1:c.114_115GT[1] NP_001394522.1:p.Cys39Terfs frameshift nonsense NM_001407594.1:c.114_115GT[1] NP_001394523.1:p.Cys39Terfs frameshift nonsense NM_001407596.1:c.114_115GT[1] NP_001394525.1:p.Cys39Terfs frameshift nonsense NM_001407597.1:c.114_115GT[1] NP_001394526.1:p.Cys39Terfs frameshift nonsense NM_001407598.1:c.114_115GT[1] NP_001394527.1:p.Cys39Terfs frameshift nonsense NM_001407602.1:c.114_115GT[1] NP_001394531.1:p.Cys39Terfs frameshift nonsense NM_001407603.1:c.114_115GT[1] NP_001394532.1:p.Cys39Terfs frameshift nonsense NM_001407605.1:c.114_115GT[1] NP_001394534.1:p.Cys39Terfs frameshift nonsense NM_001407610.1:c.114_115GT[1] NP_001394539.1:p.Cys39Terfs frameshift nonsense NM_001407611.1:c.114_115GT[1] NP_001394540.1:p.Cys39Terfs frameshift nonsense NM_001407612.1:c.114_115GT[1] NP_001394541.1:p.Cys39Terfs frameshift nonsense NM_001407613.1:c.114_115GT[1] NP_001394542.1:p.Cys39Terfs frameshift nonsense NM_001407614.1:c.114_115GT[1] NP_001394543.1:p.Cys39Terfs frameshift nonsense NM_001407615.1:c.114_115GT[1] NP_001394544.1:p.Cys39Terfs frameshift nonsense NM_001407616.1:c.114_115GT[1] NP_001394545.1:p.Cys39Terfs frameshift nonsense NM_001407617.1:c.114_115GT[1] NP_001394546.1:p.Cys39Terfs frameshift nonsense NM_001407618.1:c.114_115GT[1] NP_001394547.1:p.Cys39Terfs frameshift nonsense NM_001407619.1:c.114_115GT[1] NP_001394548.1:p.Cys39Terfs frameshift nonsense NM_001407620.1:c.114_115GT[1] NP_001394549.1:p.Cys39Terfs frameshift nonsense NM_001407621.1:c.114_115GT[1] NP_001394550.1:p.Cys39Terfs frameshift nonsense NM_001407622.1:c.114_115GT[1] NP_001394551.1:p.Cys39Terfs frameshift nonsense NM_001407623.1:c.114_115GT[1] NP_001394552.1:p.Cys39Terfs frameshift nonsense NM_001407624.1:c.114_115GT[1] NP_001394553.1:p.Cys39Terfs frameshift nonsense NM_001407625.1:c.114_115GT[1] NP_001394554.1:p.Cys39Terfs frameshift nonsense NM_001407626.1:c.114_115GT[1] NP_001394555.1:p.Cys39Terfs frameshift nonsense NM_001407627.1:c.114_115GT[1] NP_001394556.1:p.Cys39Terfs frameshift nonsense NM_001407628.1:c.114_115GT[1] NP_001394557.1:p.Cys39Terfs frameshift nonsense NM_001407629.1:c.114_115GT[1] NP_001394558.1:p.Cys39Terfs frameshift nonsense NM_001407630.1:c.114_115GT[1] NP_001394559.1:p.Cys39Terfs frameshift nonsense NM_001407631.1:c.114_115GT[1] NP_001394560.1:p.Cys39Terfs frameshift nonsense NM_001407632.1:c.114_115GT[1] NP_001394561.1:p.Cys39Terfs frameshift nonsense NM_001407633.1:c.114_115GT[1] NP_001394562.1:p.Cys39Terfs frameshift nonsense NM_001407634.1:c.114_115GT[1] NP_001394563.1:p.Cys39Terfs frameshift nonsense NM_001407635.1:c.114_115GT[1] NP_001394564.1:p.Cys39Terfs frameshift nonsense NM_001407636.1:c.114_115GT[1] NP_001394565.1:p.Cys39Terfs frameshift nonsense NM_001407637.1:c.114_115GT[1] NP_001394566.1:p.Cys39Terfs frameshift nonsense NM_001407638.1:c.114_115GT[1] NP_001394567.1:p.Cys39Terfs frameshift nonsense NM_001407639.1:c.114_115GT[1] NP_001394568.1:p.Cys39Terfs frameshift nonsense NM_001407640.1:c.114_115GT[1] NP_001394569.1:p.Cys39Terfs frameshift nonsense NM_001407641.1:c.114_115GT[1] NP_001394570.1:p.Cys39Terfs frameshift nonsense NM_001407642.1:c.114_115GT[1] NP_001394571.1:p.Cys39Terfs frameshift nonsense NM_001407644.1:c.114_115GT[1] NP_001394573.1:p.Cys39Terfs frameshift nonsense NM_001407645.1:c.114_115GT[1] NP_001394574.1:p.Cys39Terfs frameshift nonsense NM_001407646.1:c.114_115GT[1] NP_001394575.1:p.Cys39Terfs frameshift nonsense NM_001407647.1:c.114_115GT[1] NP_001394576.1:p.Cys39Terfs frameshift nonsense NM_001407648.1:c.114_115GT[1] NP_001394577.1:p.Cys39Terfs frameshift nonsense NM_001407649.1:c.114_115GT[1] NP_001394578.1:p.Cys39Terfs frameshift nonsense NM_001407652.1:c.114_115GT[1] NP_001394581.1:p.Cys39Terfs frameshift nonsense NM_001407653.1:c.114_115GT[1] NP_001394582.1:p.Cys39Terfs frameshift nonsense NM_001407654.1:c.114_115GT[1] NP_001394583.1:p.Cys39Terfs frameshift nonsense NM_001407655.1:c.114_115GT[1] NP_001394584.1:p.Cys39Terfs frameshift nonsense NM_001407656.1:c.114_115GT[1] NP_001394585.1:p.Cys39Terfs frameshift nonsense NM_001407657.1:c.114_115GT[1] NP_001394586.1:p.Cys39Terfs frameshift nonsense NM_001407658.1:c.114_115GT[1] NP_001394587.1:p.Cys39Terfs frameshift nonsense NM_001407659.1:c.114_115GT[1] NP_001394588.1:p.Cys39Terfs frameshift nonsense NM_001407660.1:c.114_115GT[1] NP_001394589.1:p.Cys39Terfs frameshift nonsense NM_001407661.1:c.114_115GT[1] NP_001394590.1:p.Cys39Terfs frameshift nonsense NM_001407662.1:c.114_115GT[1] NP_001394591.1:p.Cys39Terfs frameshift nonsense NM_001407663.1:c.114_115GT[1] NP_001394592.1:p.Cys39Terfs frameshift nonsense NM_001407664.1:c.114_115GT[1] NP_001394593.1:p.Cys39Terfs frameshift nonsense NM_001407665.1:c.114_115GT[1] NP_001394594.1:p.Cys39Terfs frameshift nonsense NM_001407666.1:c.114_115GT[1] NP_001394595.1:p.Cys39Terfs frameshift nonsense NM_001407667.1:c.114_115GT[1] NP_001394596.1:p.Cys39Terfs frameshift nonsense NM_001407668.1:c.114_115GT[1] NP_001394597.1:p.Cys39Terfs frameshift nonsense NM_001407669.1:c.114_115GT[1] NP_001394598.1:p.Cys39Terfs frameshift nonsense NM_001407670.1:c.114_115GT[1] NP_001394599.1:p.Cys39Terfs frameshift nonsense NM_001407671.1:c.114_115GT[1] NP_001394600.1:p.Cys39Terfs frameshift nonsense NM_001407672.1:c.114_115GT[1] NP_001394601.1:p.Cys39Terfs frameshift nonsense NM_001407673.1:c.114_115GT[1] NP_001394602.1:p.Cys39Terfs frameshift nonsense NM_001407674.1:c.114_115GT[1] NP_001394603.1:p.Cys39Terfs frameshift nonsense NM_001407675.1:c.114_115GT[1] NP_001394604.1:p.Cys39Terfs frameshift nonsense NM_001407676.1:c.114_115GT[1] NP_001394605.1:p.Cys39Terfs frameshift nonsense NM_001407677.1:c.114_115GT[1] NP_001394606.1:p.Cys39Terfs frameshift nonsense NM_001407678.1:c.114_115GT[1] NP_001394607.1:p.Cys39Terfs frameshift nonsense NM_001407679.1:c.114_115GT[1] NP_001394608.1:p.Cys39Terfs frameshift nonsense NM_001407680.1:c.114_115GT[1] NP_001394609.1:p.Cys39Terfs frameshift nonsense NM_001407681.1:c.114_115GT[1] NP_001394610.1:p.Cys39Terfs frameshift nonsense NM_001407682.1:c.114_115GT[1] NP_001394611.1:p.Cys39Terfs frameshift nonsense NM_001407683.1:c.114_115GT[1] NP_001394612.1:p.Cys39Terfs frameshift nonsense NM_001407684.1:c.114_115GT[1] NP_001394613.1:p.Cys39Terfs frameshift nonsense NM_001407685.1:c.114_115GT[1] NP_001394614.1:p.Cys39Terfs frameshift nonsense NM_001407686.1:c.114_115GT[1] NP_001394615.1:p.Cys39Terfs frameshift nonsense NM_001407687.1:c.114_115GT[1] NP_001394616.1:p.Cys39Terfs frameshift nonsense NM_001407688.1:c.114_115GT[1] NP_001394617.1:p.Cys39Terfs frameshift nonsense NM_001407689.1:c.114_115GT[1] NP_001394618.1:p.Cys39Terfs frameshift nonsense NM_001407690.1:c.114_115GT[1] NP_001394619.1:p.Cys39Terfs frameshift nonsense NM_001407691.1:c.114_115GT[1] NP_001394620.1:p.Cys39Terfs frameshift nonsense NM_001407694.1:c.-144_-143GT[1] NM_001407695.1:c.-148_-147GT[1] NM_001407696.1:c.-144_-143GT[1] NM_001407697.1:c.-28_-27GT[1] NM_001407724.1:c.-144_-143GT[1] NM_001407725.1:c.-28_-27GT[1] NM_001407727.1:c.-144_-143GT[1] NM_001407728.1:c.-28_-27GT[1] NM_001407729.1:c.-28_-27GT[1] NM_001407730.1:c.-28_-27GT[1] NM_001407731.1:c.-144_-143GT[1] NM_001407733.1:c.-144_-143GT[1] NM_001407734.1:c.-28_-27GT[1] NM_001407735.1:c.-28_-27GT[1] NM_001407737.1:c.-28_-27GT[1] NM_001407739.1:c.-28_-27GT[1] NM_001407740.1:c.-28_-27GT[1] NM_001407741.1:c.-28_-27GT[1] NM_001407743.1:c.-28_-27GT[1] NM_001407745.1:c.-28_-27GT[1] NM_001407746.1:c.-144_-143GT[1] NM_001407748.1:c.-28_-27GT[1] NM_001407749.1:c.-144_-143GT[1] NM_001407752.1:c.-28_-27GT[1] NM_001407838.1:c.-28_-27GT[1] NM_001407839.1:c.-28_-27GT[1] NM_001407841.1:c.-24_-23GT[1] NM_001407842.1:c.-144_-143GT[1] NM_001407843.1:c.-144_-143GT[1] NM_001407844.1:c.-28_-27GT[1] NM_001407846.1:c.-28_-27GT[1] NM_001407847.1:c.-28_-27GT[1] NM_001407848.1:c.-28_-27GT[1] NM_001407850.1:c.-28_-27GT[1] NM_001407851.1:c.-28_-27GT[1] NM_001407853.1:c.-75_-74GT[1] NM_001407854.1:c.114_115GT[1] NP_001394783.1:p.Cys39Terfs frameshift nonsense NM_001407858.1:c.114_115GT[1] NP_001394787.1:p.Cys39Terfs frameshift nonsense NM_001407859.1:c.114_115GT[1] NP_001394788.1:p.Cys39Terfs frameshift nonsense NM_001407860.1:c.114_115GT[1] NP_001394789.1:p.Cys39Terfs frameshift nonsense NM_001407861.1:c.114_115GT[1] NP_001394790.1:p.Cys39Terfs frameshift nonsense NM_001407862.1:c.114_115GT[1] NP_001394791.1:p.Cys39Terfs frameshift nonsense NM_001407863.1:c.114_115GT[1] NP_001394792.1:p.Cys39Terfs frameshift nonsense NM_001407874.1:c.114_115GT[1] NP_001394803.1:p.Cys39Terfs frameshift nonsense NM_001407875.1:c.114_115GT[1] NP_001394804.1:p.Cys39Terfs frameshift nonsense NM_001407879.1:c.-75_-74GT[1] NM_001407882.1:c.-75_-74GT[1] NM_001407884.1:c.-75_-74GT[1] NM_001407885.1:c.-75_-74GT[1] NM_001407886.1:c.-75_-74GT[1] NM_001407887.1:c.-75_-74GT[1] NM_001407889.1:c.-191_-190GT[1] NM_001407894.1:c.-75_-74GT[1] NM_001407895.1:c.-75_-74GT[1] NM_001407896.1:c.-75_-74GT[1] NM_001407897.1:c.-75_-74GT[1] NM_001407899.1:c.-75_-74GT[1] NM_001407900.1:c.-191_-190GT[1] NM_001407904.1:c.-75_-74GT[1] NM_001407906.1:c.-75_-74GT[1] NM_001407907.1:c.-75_-74GT[1] NM_001407908.1:c.-75_-74GT[1] NM_001407909.1:c.-75_-74GT[1] NM_001407910.1:c.-75_-74GT[1] NM_001407915.1:c.-75_-74GT[1] NM_001407916.1:c.-75_-74GT[1] NM_001407917.1:c.-75_-74GT[1] NM_001407918.1:c.-75_-74GT[1] NM_001407919.1:c.114_115GT[1] NP_001394848.1:p.Cys39Terfs frameshift nonsense NM_001407920.1:c.-28_-27GT[1] NM_001407921.1:c.-28_-27GT[1] NM_001407922.1:c.-28_-27GT[1] NM_001407923.1:c.-28_-27GT[1] NM_001407926.1:c.-28_-27GT[1] NM_001407927.1:c.-28_-27GT[1] NM_001407930.1:c.-144_-143GT[1] NM_001407933.1:c.-28_-27GT[1] NM_001407934.1:c.-28_-27GT[1] NM_001407935.1:c.-28_-27GT[1] NM_001407937.1:c.114_115GT[1] NP_001394866.1:p.Cys39Terfs frameshift nonsense NM_001407938.1:c.114_115GT[1] NP_001394867.1:p.Cys39Terfs frameshift nonsense NM_001407939.1:c.114_115GT[1] NP_001394868.1:p.Cys39Terfs frameshift nonsense NM_001407940.1:c.114_115GT[1] NP_001394869.1:p.Cys39Terfs frameshift nonsense NM_001407941.1:c.114_115GT[1] NP_001394870.1:p.Cys39Terfs frameshift nonsense NM_001407942.1:c.-144_-143GT[1] NM_001407943.1:c.-28_-27GT[1] NM_001407944.1:c.-28_-27GT[1] NM_001407946.1:c.-75_-74GT[1] NM_001407947.1:c.-75_-74GT[1] NM_001407948.1:c.-75_-74GT[1] NM_001407949.1:c.-75_-74GT[1] NM_001407950.1:c.-75_-74GT[1] NM_001407951.1:c.-75_-74GT[1] NM_001407952.1:c.-75_-74GT[1] NM_001407953.1:c.-75_-74GT[1] NM_001407954.1:c.-75_-74GT[1] NM_001407955.1:c.-75_-74GT[1] NM_001407956.1:c.-75_-74GT[1] NM_001407957.1:c.-75_-74GT[1] NM_001407958.1:c.-75_-74GT[1] NM_001407960.1:c.-190_-189GT[1] NM_001407962.1:c.-190_-189GT[1] NM_001407964.1:c.-28_-27GT[1] NM_001407965.1:c.-306_-305GT[1] NM_001407968.1:c.114_115GT[1] NP_001394897.1:p.Cys39Terfs frameshift nonsense NM_001407969.1:c.114_115GT[1] NP_001394898.1:p.Cys39Terfs frameshift nonsense NM_001407970.1:c.114_115GT[1] NP_001394899.1:p.Cys39Terfs frameshift nonsense NM_001407971.1:c.114_115GT[1] NP_001394900.1:p.Cys39Terfs frameshift nonsense NM_001407972.1:c.114_115GT[1] NP_001394901.1:p.Cys39Terfs frameshift nonsense NM_001407973.1:c.114_115GT[1] NP_001394902.1:p.Cys39Terfs frameshift nonsense NM_001407974.1:c.114_115GT[1] NP_001394903.1:p.Cys39Terfs frameshift nonsense NM_001407975.1:c.114_115GT[1] NP_001394904.1:p.Cys39Terfs frameshift nonsense NM_001407976.1:c.114_115GT[1] NP_001394905.1:p.Cys39Terfs frameshift nonsense NM_001407977.1:c.114_115GT[1] NP_001394906.1:p.Cys39Terfs frameshift nonsense NM_001407978.1:c.114_115GT[1] NP_001394907.1:p.Cys39Terfs frameshift nonsense NM_001407979.1:c.114_115GT[1] NP_001394908.1:p.Cys39Terfs frameshift nonsense NM_001407980.1:c.114_115GT[1] NP_001394909.1:p.Cys39Terfs frameshift nonsense NM_001407981.1:c.114_115GT[1] NP_001394910.1:p.Cys39Terfs frameshift nonsense NM_001407982.1:c.114_115GT[1] NP_001394911.1:p.Cys39Terfs frameshift nonsense NM_001407983.1:c.114_115GT[1] NP_001394912.1:p.Cys39Terfs frameshift nonsense NM_001407984.1:c.114_115GT[1] NP_001394913.1:p.Cys39Terfs frameshift nonsense NM_001407985.1:c.114_115GT[1] NP_001394914.1:p.Cys39Terfs frameshift nonsense NM_001407986.1:c.114_115GT[1] NP_001394915.1:p.Cys39Terfs frameshift nonsense NM_001407990.1:c.114_115GT[1] NP_001394919.1:p.Cys39Terfs frameshift nonsense NM_001407991.1:c.114_115GT[1] NP_001394920.1:p.Cys39Terfs frameshift nonsense NM_001407992.1:c.114_115GT[1] NP_001394921.1:p.Cys39Terfs frameshift nonsense NM_001407993.1:c.114_115GT[1] NP_001394922.1:p.Cys39Terfs frameshift nonsense NM_001408392.1:c.114_115GT[1] NP_001395321.1:p.Cys39Terfs frameshift nonsense NM_001408396.1:c.114_115GT[1] NP_001395325.1:p.Cys39Terfs frameshift nonsense NM_001408397.1:c.114_115GT[1] NP_001395326.1:p.Cys39Terfs frameshift nonsense NM_001408398.1:c.114_115GT[1] NP_001395327.1:p.Cys39Terfs frameshift nonsense NM_001408399.1:c.114_115GT[1] NP_001395328.1:p.Cys39Terfs frameshift nonsense NM_001408400.1:c.114_115GT[1] NP_001395329.1:p.Cys39Terfs frameshift nonsense NM_001408401.1:c.114_115GT[1] NP_001395330.1:p.Cys39Terfs frameshift nonsense NM_001408402.1:c.114_115GT[1] NP_001395331.1:p.Cys39Terfs frameshift nonsense NM_001408403.1:c.114_115GT[1] NP_001395332.1:p.Cys39Terfs frameshift nonsense NM_001408404.1:c.114_115GT[1] NP_001395333.1:p.Cys39Terfs frameshift nonsense NM_001408406.1:c.114_115GT[1] NP_001395335.1:p.Cys39Terfs frameshift nonsense NM_001408407.1:c.114_115GT[1] NP_001395336.1:p.Cys39Terfs frameshift nonsense NM_001408408.1:c.114_115GT[1] NP_001395337.1:p.Cys39Terfs frameshift nonsense NM_001408409.1:c.114_115GT[1] NP_001395338.1:p.Cys39Terfs frameshift nonsense NM_001408410.1:c.-28_-27GT[1] NM_001408411.1:c.114_115GT[1] NP_001395340.1:p.Cys39Terfs frameshift nonsense NM_001408412.1:c.114_115GT[1] NP_001395341.1:p.Cys39Terfs frameshift nonsense NM_001408413.1:c.114_115GT[1] NP_001395342.1:p.Cys39Terfs frameshift nonsense NM_001408414.1:c.114_115GT[1] NP_001395343.1:p.Cys39Terfs frameshift nonsense NM_001408415.1:c.114_115GT[1] NP_001395344.1:p.Cys39Terfs frameshift nonsense NM_001408416.1:c.114_115GT[1] NP_001395345.1:p.Cys39Terfs frameshift nonsense NM_001408418.1:c.114_115GT[1] NP_001395347.1:p.Cys39Terfs frameshift nonsense NM_001408419.1:c.114_115GT[1] NP_001395348.1:p.Cys39Terfs frameshift nonsense NM_001408420.1:c.114_115GT[1] NP_001395349.1:p.Cys39Terfs frameshift nonsense NM_001408421.1:c.114_115GT[1] NP_001395350.1:p.Cys39Terfs frameshift nonsense NM_001408422.1:c.114_115GT[1] NP_001395351.1:p.Cys39Terfs frameshift nonsense NM_001408423.1:c.114_115GT[1] NP_001395352.1:p.Cys39Terfs frameshift nonsense NM_001408424.1:c.114_115GT[1] NP_001395353.1:p.Cys39Terfs frameshift nonsense NM_001408425.1:c.114_115GT[1] NP_001395354.1:p.Cys39Terfs frameshift nonsense NM_001408426.1:c.114_115GT[1] NP_001395355.1:p.Cys39Terfs frameshift nonsense NM_001408427.1:c.114_115GT[1] NP_001395356.1:p.Cys39Terfs frameshift nonsense NM_001408428.1:c.114_115GT[1] NP_001395357.1:p.Cys39Terfs frameshift nonsense NM_001408429.1:c.114_115GT[1] NP_001395358.1:p.Cys39Terfs frameshift nonsense NM_001408430.1:c.114_115GT[1] NP_001395359.1:p.Cys39Terfs frameshift nonsense NM_001408431.1:c.114_115GT[1] NP_001395360.1:p.Cys39Terfs frameshift nonsense NM_001408432.1:c.114_115GT[1] NP_001395361.1:p.Cys39Terfs frameshift nonsense NM_001408433.1:c.114_115GT[1] NP_001395362.1:p.Cys39Terfs frameshift nonsense NM_001408434.1:c.114_115GT[1] NP_001395363.1:p.Cys39Terfs frameshift nonsense NM_001408435.1:c.114_115GT[1] NP_001395364.1:p.Cys39Terfs frameshift nonsense NM_001408436.1:c.114_115GT[1] NP_001395365.1:p.Cys39Terfs frameshift nonsense NM_001408437.1:c.114_115GT[1] NP_001395366.1:p.Cys39Terfs frameshift nonsense NM_001408438.1:c.114_115GT[1] NP_001395367.1:p.Cys39Terfs frameshift nonsense NM_001408439.1:c.114_115GT[1] NP_001395368.1:p.Cys39Terfs frameshift nonsense NM_001408440.1:c.114_115GT[1] NP_001395369.1:p.Cys39Terfs frameshift nonsense NM_001408441.1:c.114_115GT[1] NP_001395370.1:p.Cys39Terfs frameshift nonsense NM_001408442.1:c.114_115GT[1] NP_001395371.1:p.Cys39Terfs frameshift nonsense NM_001408443.1:c.114_115GT[1] NP_001395372.1:p.Cys39Terfs frameshift nonsense NM_001408444.1:c.114_115GT[1] NP_001395373.1:p.Cys39Terfs frameshift nonsense NM_001408445.1:c.114_115GT[1] NP_001395374.1:p.Cys39Terfs frameshift nonsense NM_001408446.1:c.114_115GT[1] NP_001395375.1:p.Cys39Terfs frameshift nonsense NM_001408447.1:c.114_115GT[1] NP_001395376.1:p.Cys39Terfs frameshift nonsense NM_001408448.1:c.114_115GT[1] NP_001395377.1:p.Cys39Terfs frameshift nonsense NM_001408450.1:c.114_115GT[1] NP_001395379.1:p.Cys39Terfs frameshift nonsense NM_001408452.1:c.-28_-27GT[1] NM_001408453.1:c.-28_-27GT[1] NM_001408455.1:c.-144_-143GT[1] NM_001408456.1:c.-144_-143GT[1] NM_001408458.1:c.-28_-27GT[1] NM_001408462.1:c.-28_-27GT[1] NM_001408463.1:c.-28_-27GT[1] NM_001408465.1:c.-148_-147GT[1] NM_001408466.1:c.-28_-27GT[1] NM_001408468.1:c.-144_-143GT[1] NM_001408469.1:c.-28_-27GT[1] NM_001408470.1:c.-28_-27GT[1] NM_001408472.1:c.114_115GT[1] NP_001395401.1:p.Cys39Terfs frameshift nonsense NM_001408473.1:c.114_115GT[1] NP_001395402.1:p.Cys39Terfs frameshift nonsense NM_001408474.1:c.114_115GT[1] NP_001395403.1:p.Cys39Terfs frameshift nonsense NM_001408475.1:c.114_115GT[1] NP_001395404.1:p.Cys39Terfs frameshift nonsense NM_001408476.1:c.114_115GT[1] NP_001395405.1:p.Cys39Terfs frameshift nonsense NM_001408478.1:c.-75_-74GT[1] NM_001408479.1:c.-75_-74GT[1] NM_001408480.1:c.-75_-74GT[1] NM_001408481.1:c.-75_-74GT[1] NM_001408482.1:c.-75_-74GT[1] NM_001408483.1:c.-75_-74GT[1] NM_001408484.1:c.-75_-74GT[1] NM_001408485.1:c.-75_-74GT[1] NM_001408489.1:c.-75_-74GT[1] NM_001408490.1:c.-75_-74GT[1] NM_001408491.1:c.-75_-74GT[1] NM_001408492.1:c.-191_-190GT[1] NM_001408493.1:c.-75_-74GT[1] NM_001408494.1:c.114_115GT[1] NP_001395423.1:p.Cys39Terfs frameshift nonsense NM_001408495.1:c.114_115GT[1] NP_001395424.1:p.Cys39Terfs frameshift nonsense NM_001408497.1:c.-28_-27GT[1] NM_001408499.1:c.-28_-27GT[1] NM_001408500.1:c.-28_-27GT[1] NM_001408501.1:c.-144_-143GT[1] NM_001408502.1:c.-75_-74GT[1] NM_001408503.1:c.-28_-27GT[1] NM_001408504.1:c.-28_-27GT[1] NM_001408505.1:c.-28_-27GT[1] NM_001408506.1:c.-75_-74GT[1] NM_001408507.1:c.-75_-74GT[1] NM_001408508.1:c.-75_-74GT[1] NM_001408509.1:c.-75_-74GT[1] NM_001408510.1:c.-190_-189GT[1] NM_001408512.1:c.-190_-189GT[1] NM_001408513.1:c.-75_-74GT[1] NM_001408514.1:c.-75_-74GT[1] NM_007294.3:c.117_118delTG frameshift nonsense NM_007297.4:c.-8+8274_-8+8275del intron variant NM_007298.4:c.114_115GT[1] NP_009229.2:p.Cys39Terfs frameshift nonsense NM_007299.4:c.117_118del NP_009230.2:p.Cys39_Asp40delinsTer nonsense NM_007300.4:c.117_118del NP_009231.2:p.Cys39_Asp40delinsTer nonsense NM_007304.2:c.114_115GT[1] NP_009235.2:p.Cys39Terfs frameshift nonsense NR_027676.2:n.317TG[1] non-coding transcript variant NC_000017.11:g.43115743AC[1] NC_000017.10:g.41267760AC[1] NG_005905.2:g.102239TG[1] LRG_292:g.102239TG[1] LRG_292t1:c.114_115GT[1] LRG_292p1:p.Cys39Terfs U14680.1:n.236_237delTG - Protein change
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- Other names
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236delTG
- Canonical SPDI
- NC_000017.11:43115741:CACAC:CAC
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13041 | 14847 | |
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 (5) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000077484.16 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Dec 14, 2021 | RCV000162845.13 | |
| Pathogenic (2) |
criteria provided, single submitter
|
Jun 24, 2021 | RCV000735464.11 | |
| Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Dec 5, 2022 | RCV000759490.15 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Mar 28, 2023 | RCV001070624.16 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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|---|---|---|---|---|---|
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Pathogenic
(Sep 08, 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: SCV000299406.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Jun 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838911.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
|
|
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Pathogenic
(Feb 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216830.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(Sep 15, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888835.3
First in ClinVar: Mar 14, 2019 Last updated: Jan 06, 2024 |
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not … (more)
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast and/or ovarian cancer (PMIDs: 10755399 (2000), 2706268 (2016), 28888541 (2017), and 29446198 (2018)). Based on the available information, this variant is classified as pathogenic. (less)
|
|
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Pathogenic
(Mar 28, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001235886.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 28, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Cys39*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Cys39*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54157). This variant is also known as 236delAG, 39delTG. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10755399, 27062684). This variant is not present in population databases (gnomAD no frequency). (less)
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Pathogenic
(Dec 05, 2022)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005197263.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
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Pathogenic
(Nov 06, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001811623.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as c.236_237delTG and c.236delTG; Observed in individuals with BRCA1-related cancers (Osorio 2000, Diez 2003, Capalbo 2006, Azzollini 2016, Franzese 2019); This variant is associated with the following publications: (PMID: 16760289, 18528753, 12955716, 28392550, 27062684, 10755399, 31850198) (less)
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|
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Pathogenic
(Mar 08, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV002053223.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
Comment:
This variant deletes 2 nucleotides in exon 3 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 2 nucleotides in exon 3 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least four suspected hereditary breast and ovarian cancer families (PMID: 10755399, 16760289, 27062684, 29446198). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
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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: SCV000324976.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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Pathogenic
(Dec 14, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000213332.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The c.117_118delTG pathogenic mutation, located in coding exon 2 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 117 to … (more)
The c.117_118delTG pathogenic mutation, located in coding exon 2 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 117 to 118, causing a translational frameshift with a predicted alternate stop codon (p.C39*). This alteration has been reported as a pathogenic mutation in multiple individuals from large cohorts of BRCA1/2 mutation carriers (Azzollini J et al. Eur. J. Intern. Med., 2016 Jul;32:65-71; Rebbeck TR et al. Hum. Mutat., 2018 May;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
|
|
Pathogenic
(May 29, 2002)
|
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: SCV000144356.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Spain
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
|
|
Pathogenic
(Jul 08, 2009)
|
no assertion criteria provided
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863601.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
|
|
|
Pathogenic
(Jun 28, 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: SCV000109282.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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Comment:
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast and/or ovarian cancer (PMIDs: 10755399 (2000), 2706268 (2016), 28888541 (2017), and 29446198 (2018)). Based on the available information, this variant is classified as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Cys39*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54157). This variant is also known as 236delAG, 39delTG. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10755399, 27062684). This variant is not present in population databases (gnomAD no frequency).
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as c.236_237delTG and c.236delTG; Observed in individuals with BRCA1-related cancers (Osorio 2000, Diez 2003, Capalbo 2006, Azzollini 2016, Franzese 2019); This variant is associated with the following publications: (PMID: 16760289, 18528753, 12955716, 28392550, 27062684, 10755399, 31850198)
Comment:
This variant deletes 2 nucleotides in exon 3 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least four suspected hereditary breast and ovarian cancer families (PMID: 10755399, 16760289, 27062684, 29446198). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The c.117_118delTG pathogenic mutation, located in coding exon 2 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 117 to 118, causing a translational frameshift with a predicted alternate stop codon (p.C39*). This alteration has been reported as a pathogenic mutation in multiple individuals from large cohorts of BRCA1/2 mutation carriers (Azzollini J et al. Eur. J. Intern. Med., 2016 Jul;32:65-71; Rebbeck TR et al. Hum. Mutat., 2018 May;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast and/or ovarian cancer (PMIDs: 10755399 (2000), 2706268 (2016), 28888541 (2017), and 29446198 (2018)). Based on the available information, this variant is classified as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Cys39*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54157). This variant is also known as 236delAG, 39delTG. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10755399, 27062684). This variant is not present in population databases (gnomAD no frequency).
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as c.236_237delTG and c.236delTG; Observed in individuals with BRCA1-related cancers (Osorio 2000, Diez 2003, Capalbo 2006, Azzollini 2016, Franzese 2019); This variant is associated with the following publications: (PMID: 16760289, 18528753, 12955716, 28392550, 27062684, 10755399, 31850198)
Comment:
This variant deletes 2 nucleotides in exon 3 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least four suspected hereditary breast and ovarian cancer families (PMID: 10755399, 16760289, 27062684, 29446198). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The c.117_118delTG pathogenic mutation, located in coding exon 2 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 117 to 118, causing a translational frameshift with a predicted alternate stop codon (p.C39*). This alteration has been reported as a pathogenic mutation in multiple individuals from large cohorts of BRCA1/2 mutation carriers (Azzollini J et al. Eur. J. Intern. Med., 2016 Jul;32:65-71; Rebbeck TR et al. Hum. Mutat., 2018 May;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | 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 |
| Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. | Lilyquist J | Gynecologic oncology | 2017 | PMID: 28888541 |
| Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. | Azzollini J | European journal of internal medicine | 2016 | PMID: 27062684 |
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
| 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 |
| Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families. | Osorio A | British journal of cancer | 2000 | PMID: 10755399 |
Text-mined citations for rs80357972 ...
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Record last updated Nov 03, 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.