Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs)
Germline
Reviewed by expert panel
Help
Reviewed by expert panel. Learn more about how ClinVar calculates review status.
Pathogenic
for
Breast-ovarian cancer, familial, susceptibility to, 1
Classification is based on the expert panel submission
Sep 2016 by
Evidence-based Network for the Interpretation of Germline M…
Help
The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs)
Variation ID: 54412 Accession: VCV000054412.21
- Type and length
-
Duplication, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43093577-43093578 (GRCh38) [ NCBI UCSC ] 17: 41245594-41245595 (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 4, 2014 Feb 16, 2025 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.1953dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys652fs frameshift NM_001407571.1:c.1740dup NP_001394500.1:p.Lys581fs frameshift NM_001407581.1:c.1953dup NP_001394510.1:p.Lys652fs frameshift NM_001407582.1:c.1953dup NP_001394511.1:p.Lys652fs frameshift NM_001407583.1:c.1953dup NP_001394512.1:p.Lys652fs frameshift NM_001407585.1:c.1953dup NP_001394514.1:p.Lys652fs frameshift NM_001407587.1:c.1950dup NP_001394516.1:p.Lys651fs frameshift NM_001407590.1:c.1950dup NP_001394519.1:p.Lys651fs frameshift NM_001407591.1:c.1950dup NP_001394520.1:p.Lys651fs frameshift NM_001407593.1:c.1953dup NP_001394522.1:p.Lys652fs frameshift NM_001407594.1:c.1953dup NP_001394523.1:p.Lys652fs frameshift NM_001407596.1:c.1953dup NP_001394525.1:p.Lys652fs frameshift NM_001407597.1:c.1953dup NP_001394526.1:p.Lys652fs frameshift NM_001407598.1:c.1953dup NP_001394527.1:p.Lys652fs frameshift NM_001407602.1:c.1953dup NP_001394531.1:p.Lys652fs frameshift NM_001407603.1:c.1953dup NP_001394532.1:p.Lys652fs frameshift NM_001407605.1:c.1953dup NP_001394534.1:p.Lys652fs frameshift NM_001407610.1:c.1950dup NP_001394539.1:p.Lys651fs frameshift NM_001407611.1:c.1950dup NP_001394540.1:p.Lys651fs frameshift NM_001407612.1:c.1950dup NP_001394541.1:p.Lys651fs frameshift NM_001407613.1:c.1950dup NP_001394542.1:p.Lys651fs frameshift NM_001407614.1:c.1950dup NP_001394543.1:p.Lys651fs frameshift NM_001407615.1:c.1950dup NP_001394544.1:p.Lys651fs frameshift NM_001407616.1:c.1953dup NP_001394545.1:p.Lys652fs frameshift NM_001407617.1:c.1953dup NP_001394546.1:p.Lys652fs frameshift NM_001407618.1:c.1953dup NP_001394547.1:p.Lys652fs frameshift NM_001407619.1:c.1953dup NP_001394548.1:p.Lys652fs frameshift NM_001407620.1:c.1953dup NP_001394549.1:p.Lys652fs frameshift NM_001407621.1:c.1953dup NP_001394550.1:p.Lys652fs frameshift NM_001407622.1:c.1953dup NP_001394551.1:p.Lys652fs frameshift NM_001407623.1:c.1953dup NP_001394552.1:p.Lys652fs frameshift NM_001407624.1:c.1953dup NP_001394553.1:p.Lys652fs frameshift NM_001407625.1:c.1953dup NP_001394554.1:p.Lys652fs frameshift NM_001407626.1:c.1953dup NP_001394555.1:p.Lys652fs frameshift NM_001407627.1:c.1950dup NP_001394556.1:p.Lys651fs frameshift NM_001407628.1:c.1950dup NP_001394557.1:p.Lys651fs frameshift NM_001407629.1:c.1950dup NP_001394558.1:p.Lys651fs frameshift NM_001407630.1:c.1950dup NP_001394559.1:p.Lys651fs frameshift NM_001407631.1:c.1950dup NP_001394560.1:p.Lys651fs frameshift NM_001407632.1:c.1950dup NP_001394561.1:p.Lys651fs frameshift NM_001407633.1:c.1950dup NP_001394562.1:p.Lys651fs frameshift NM_001407634.1:c.1950dup NP_001394563.1:p.Lys651fs frameshift NM_001407635.1:c.1950dup NP_001394564.1:p.Lys651fs frameshift NM_001407636.1:c.1950dup NP_001394565.1:p.Lys651fs frameshift NM_001407637.1:c.1950dup NP_001394566.1:p.Lys651fs frameshift NM_001407638.1:c.1950dup NP_001394567.1:p.Lys651fs frameshift NM_001407639.1:c.1953dup NP_001394568.1:p.Lys652fs frameshift NM_001407640.1:c.1953dup NP_001394569.1:p.Lys652fs frameshift NM_001407641.1:c.1953dup NP_001394570.1:p.Lys652fs frameshift NM_001407642.1:c.1953dup NP_001394571.1:p.Lys652fs frameshift NM_001407644.1:c.1950dup NP_001394573.1:p.Lys651fs frameshift NM_001407645.1:c.1950dup NP_001394574.1:p.Lys651fs frameshift NM_001407646.1:c.1944dup NP_001394575.1:p.Lys649fs frameshift NM_001407647.1:c.1944dup NP_001394576.1:p.Lys649fs frameshift NM_001407648.1:c.1830dup NP_001394577.1:p.Lys611fs frameshift NM_001407649.1:c.1827dup NP_001394578.1:p.Lys610fs frameshift NM_001407652.1:c.1953dup NP_001394581.1:p.Lys652fs frameshift NM_001407653.1:c.1875dup NP_001394582.1:p.Lys626fs frameshift NM_001407654.1:c.1875dup NP_001394583.1:p.Lys626fs frameshift NM_001407655.1:c.1875dup NP_001394584.1:p.Lys626fs frameshift NM_001407656.1:c.1875dup NP_001394585.1:p.Lys626fs frameshift NM_001407657.1:c.1875dup NP_001394586.1:p.Lys626fs frameshift NM_001407658.1:c.1875dup NP_001394587.1:p.Lys626fs frameshift NM_001407659.1:c.1872dup NP_001394588.1:p.Lys625fs frameshift NM_001407660.1:c.1872dup NP_001394589.1:p.Lys625fs frameshift NM_001407661.1:c.1872dup NP_001394590.1:p.Lys625fs frameshift NM_001407662.1:c.1872dup NP_001394591.1:p.Lys625fs frameshift NM_001407663.1:c.1875dup NP_001394592.1:p.Lys626fs frameshift NM_001407664.1:c.1830dup NP_001394593.1:p.Lys611fs frameshift NM_001407665.1:c.1830dup NP_001394594.1:p.Lys611fs frameshift NM_001407666.1:c.1830dup NP_001394595.1:p.Lys611fs frameshift NM_001407667.1:c.1830dup NP_001394596.1:p.Lys611fs frameshift NM_001407668.1:c.1830dup NP_001394597.1:p.Lys611fs frameshift NM_001407669.1:c.1830dup NP_001394598.1:p.Lys611fs frameshift NM_001407670.1:c.1827dup NP_001394599.1:p.Lys610fs frameshift NM_001407671.1:c.1827dup NP_001394600.1:p.Lys610fs frameshift NM_001407672.1:c.1827dup NP_001394601.1:p.Lys610fs frameshift NM_001407673.1:c.1827dup NP_001394602.1:p.Lys610fs frameshift NM_001407674.1:c.1830dup NP_001394603.1:p.Lys611fs frameshift NM_001407675.1:c.1830dup NP_001394604.1:p.Lys611fs frameshift NM_001407676.1:c.1830dup NP_001394605.1:p.Lys611fs frameshift NM_001407677.1:c.1830dup NP_001394606.1:p.Lys611fs frameshift NM_001407678.1:c.1830dup NP_001394607.1:p.Lys611fs frameshift NM_001407679.1:c.1830dup NP_001394608.1:p.Lys611fs frameshift NM_001407680.1:c.1830dup NP_001394609.1:p.Lys611fs frameshift NM_001407681.1:c.1830dup NP_001394610.1:p.Lys611fs frameshift NM_001407682.1:c.1830dup NP_001394611.1:p.Lys611fs frameshift NM_001407683.1:c.1830dup NP_001394612.1:p.Lys611fs frameshift NM_001407684.1:c.1953dup NP_001394613.1:p.Lys652fs frameshift NM_001407685.1:c.1827dup NP_001394614.1:p.Lys610fs frameshift NM_001407686.1:c.1827dup NP_001394615.1:p.Lys610fs frameshift NM_001407687.1:c.1827dup NP_001394616.1:p.Lys610fs frameshift NM_001407688.1:c.1827dup NP_001394617.1:p.Lys610fs frameshift NM_001407689.1:c.1827dup NP_001394618.1:p.Lys610fs frameshift NM_001407690.1:c.1827dup NP_001394619.1:p.Lys610fs frameshift NM_001407691.1:c.1827dup NP_001394620.1:p.Lys610fs frameshift NM_001407692.1:c.1812dup NP_001394621.1:p.Lys605fs frameshift NM_001407694.1:c.1812dup NP_001394623.1:p.Lys605fs frameshift NM_001407695.1:c.1812dup NP_001394624.1:p.Lys605fs frameshift NM_001407696.1:c.1812dup NP_001394625.1:p.Lys605fs frameshift NM_001407697.1:c.1812dup NP_001394626.1:p.Lys605fs frameshift NM_001407698.1:c.1812dup NP_001394627.1:p.Lys605fs frameshift NM_001407724.1:c.1812dup NP_001394653.1:p.Lys605fs frameshift NM_001407725.1:c.1812dup NP_001394654.1:p.Lys605fs frameshift NM_001407726.1:c.1812dup NP_001394655.1:p.Lys605fs frameshift NM_001407727.1:c.1812dup NP_001394656.1:p.Lys605fs frameshift NM_001407728.1:c.1812dup NP_001394657.1:p.Lys605fs frameshift NM_001407729.1:c.1812dup NP_001394658.1:p.Lys605fs frameshift NM_001407730.1:c.1812dup NP_001394659.1:p.Lys605fs frameshift NM_001407731.1:c.1812dup NP_001394660.1:p.Lys605fs frameshift NM_001407732.1:c.1812dup NP_001394661.1:p.Lys605fs frameshift NM_001407733.1:c.1812dup NP_001394662.1:p.Lys605fs frameshift NM_001407734.1:c.1812dup NP_001394663.1:p.Lys605fs frameshift NM_001407735.1:c.1812dup NP_001394664.1:p.Lys605fs frameshift NM_001407736.1:c.1812dup NP_001394665.1:p.Lys605fs frameshift NM_001407737.1:c.1812dup NP_001394666.1:p.Lys605fs frameshift NM_001407738.1:c.1812dup NP_001394667.1:p.Lys605fs frameshift NM_001407739.1:c.1812dup NP_001394668.1:p.Lys605fs frameshift NM_001407740.1:c.1809dup NP_001394669.1:p.Lys604fs frameshift NM_001407741.1:c.1809dup NP_001394670.1:p.Lys604fs frameshift NM_001407742.1:c.1809dup NP_001394671.1:p.Lys604fs frameshift NM_001407743.1:c.1809dup NP_001394672.1:p.Lys604fs frameshift NM_001407744.1:c.1809dup NP_001394673.1:p.Lys604fs frameshift NM_001407745.1:c.1809dup NP_001394674.1:p.Lys604fs frameshift NM_001407746.1:c.1809dup NP_001394675.1:p.Lys604fs frameshift NM_001407747.1:c.1809dup NP_001394676.1:p.Lys604fs frameshift NM_001407748.1:c.1809dup NP_001394677.1:p.Lys604fs frameshift NM_001407749.1:c.1809dup NP_001394678.1:p.Lys604fs frameshift NM_001407750.1:c.1812dup NP_001394679.1:p.Lys605fs frameshift NM_001407751.1:c.1812dup NP_001394680.1:p.Lys605fs frameshift NM_001407752.1:c.1812dup NP_001394681.1:p.Lys605fs frameshift NM_001407838.1:c.1809dup NP_001394767.1:p.Lys604fs frameshift NM_001407839.1:c.1809dup NP_001394768.1:p.Lys604fs frameshift NM_001407841.1:c.1809dup NP_001394770.1:p.Lys604fs frameshift NM_001407842.1:c.1809dup NP_001394771.1:p.Lys604fs frameshift NM_001407843.1:c.1809dup NP_001394772.1:p.Lys604fs frameshift NM_001407844.1:c.1809dup NP_001394773.1:p.Lys604fs frameshift NM_001407845.1:c.1809dup NP_001394774.1:p.Lys604fs frameshift NM_001407846.1:c.1809dup NP_001394775.1:p.Lys604fs frameshift NM_001407847.1:c.1809dup NP_001394776.1:p.Lys604fs frameshift NM_001407848.1:c.1809dup NP_001394777.1:p.Lys604fs frameshift NM_001407849.1:c.1809dup NP_001394778.1:p.Lys604fs frameshift NM_001407850.1:c.1812dup NP_001394779.1:p.Lys605fs frameshift NM_001407851.1:c.1812dup NP_001394780.1:p.Lys605fs frameshift NM_001407852.1:c.1812dup NP_001394781.1:p.Lys605fs frameshift NM_001407853.1:c.1740dup NP_001394782.1:p.Lys581fs frameshift NM_001407854.1:c.1953dup NP_001394783.1:p.Lys652fs frameshift NM_001407858.1:c.1953dup NP_001394787.1:p.Lys652fs frameshift NM_001407859.1:c.1953dup NP_001394788.1:p.Lys652fs frameshift NM_001407860.1:c.1950dup NP_001394789.1:p.Lys651fs frameshift NM_001407861.1:c.1950dup NP_001394790.1:p.Lys651fs frameshift NM_001407862.1:c.1752dup NP_001394791.1:p.Lys585fs frameshift NM_001407863.1:c.1830dup NP_001394792.1:p.Lys611fs frameshift NM_001407874.1:c.1749dup NP_001394803.1:p.Lys584fs frameshift NM_001407875.1:c.1749dup NP_001394804.1:p.Lys584fs frameshift NM_001407879.1:c.1743dup NP_001394808.1:p.Lys582fs frameshift NM_001407881.1:c.1743dup NP_001394810.1:p.Lys582fs frameshift NM_001407882.1:c.1743dup NP_001394811.1:p.Lys582fs frameshift NM_001407884.1:c.1743dup NP_001394813.1:p.Lys582fs frameshift NM_001407885.1:c.1743dup NP_001394814.1:p.Lys582fs frameshift NM_001407886.1:c.1743dup NP_001394815.1:p.Lys582fs frameshift NM_001407887.1:c.1743dup NP_001394816.1:p.Lys582fs frameshift NM_001407889.1:c.1743dup NP_001394818.1:p.Lys582fs frameshift NM_001407894.1:c.1740dup NP_001394823.1:p.Lys581fs frameshift NM_001407895.1:c.1740dup NP_001394824.1:p.Lys581fs frameshift NM_001407896.1:c.1740dup NP_001394825.1:p.Lys581fs frameshift NM_001407897.1:c.1740dup NP_001394826.1:p.Lys581fs frameshift NM_001407898.1:c.1740dup NP_001394827.1:p.Lys581fs frameshift NM_001407899.1:c.1740dup NP_001394828.1:p.Lys581fs frameshift NM_001407900.1:c.1743dup NP_001394829.1:p.Lys582fs frameshift NM_001407902.1:c.1743dup NP_001394831.1:p.Lys582fs frameshift NM_001407904.1:c.1743dup NP_001394833.1:p.Lys582fs frameshift NM_001407906.1:c.1743dup NP_001394835.1:p.Lys582fs frameshift NM_001407907.1:c.1743dup NP_001394836.1:p.Lys582fs frameshift NM_001407908.1:c.1743dup NP_001394837.1:p.Lys582fs frameshift NM_001407909.1:c.1743dup NP_001394838.1:p.Lys582fs frameshift NM_001407910.1:c.1743dup NP_001394839.1:p.Lys582fs frameshift NM_001407915.1:c.1740dup NP_001394844.1:p.Lys581fs frameshift NM_001407916.1:c.1740dup NP_001394845.1:p.Lys581fs frameshift NM_001407917.1:c.1740dup NP_001394846.1:p.Lys581fs frameshift NM_001407918.1:c.1740dup NP_001394847.1:p.Lys581fs frameshift NM_001407919.1:c.1830dup NP_001394848.1:p.Lys611fs frameshift NM_001407920.1:c.1689dup NP_001394849.1:p.Lys564fs frameshift NM_001407921.1:c.1689dup NP_001394850.1:p.Lys564fs frameshift NM_001407922.1:c.1689dup NP_001394851.1:p.Lys564fs frameshift NM_001407923.1:c.1689dup NP_001394852.1:p.Lys564fs frameshift NM_001407924.1:c.1689dup NP_001394853.1:p.Lys564fs frameshift NM_001407925.1:c.1689dup NP_001394854.1:p.Lys564fs frameshift NM_001407926.1:c.1689dup NP_001394855.1:p.Lys564fs frameshift NM_001407927.1:c.1689dup NP_001394856.1:p.Lys564fs frameshift NM_001407928.1:c.1689dup NP_001394857.1:p.Lys564fs frameshift NM_001407929.1:c.1689dup NP_001394858.1:p.Lys564fs frameshift NM_001407930.1:c.1686dup NP_001394859.1:p.Lys563fs frameshift NM_001407931.1:c.1686dup NP_001394860.1:p.Lys563fs frameshift NM_001407932.1:c.1686dup NP_001394861.1:p.Lys563fs frameshift NM_001407933.1:c.1689dup NP_001394862.1:p.Lys564fs frameshift NM_001407934.1:c.1686dup NP_001394863.1:p.Lys563fs frameshift NM_001407935.1:c.1689dup NP_001394864.1:p.Lys564fs frameshift NM_001407936.1:c.1686dup NP_001394865.1:p.Lys563fs frameshift NM_001407937.1:c.1830dup NP_001394866.1:p.Lys611fs frameshift NM_001407938.1:c.1830dup NP_001394867.1:p.Lys611fs frameshift NM_001407939.1:c.1830dup NP_001394868.1:p.Lys611fs frameshift NM_001407940.1:c.1827dup NP_001394869.1:p.Lys610fs frameshift NM_001407941.1:c.1827dup NP_001394870.1:p.Lys610fs frameshift NM_001407942.1:c.1812dup NP_001394871.1:p.Lys605fs frameshift NM_001407943.1:c.1809dup NP_001394872.1:p.Lys604fs frameshift NM_001407944.1:c.1812dup NP_001394873.1:p.Lys605fs frameshift NM_001407945.1:c.1812dup NP_001394874.1:p.Lys605fs frameshift NM_001407946.1:c.1620dup NP_001394875.1:p.Lys541fs frameshift NM_001407947.1:c.1620dup NP_001394876.1:p.Lys541fs frameshift NM_001407948.1:c.1620dup NP_001394877.1:p.Lys541fs frameshift NM_001407949.1:c.1620dup NP_001394878.1:p.Lys541fs frameshift NM_001407950.1:c.1620dup NP_001394879.1:p.Lys541fs frameshift NM_001407951.1:c.1620dup NP_001394880.1:p.Lys541fs frameshift NM_001407952.1:c.1620dup NP_001394881.1:p.Lys541fs frameshift NM_001407953.1:c.1620dup NP_001394882.1:p.Lys541fs frameshift NM_001407954.1:c.1617dup NP_001394883.1:p.Lys540fs frameshift NM_001407955.1:c.1617dup NP_001394884.1:p.Lys540fs frameshift NM_001407956.1:c.1617dup NP_001394885.1:p.Lys540fs frameshift NM_001407957.1:c.1620dup NP_001394886.1:p.Lys541fs frameshift NM_001407958.1:c.1617dup NP_001394887.1:p.Lys540fs frameshift NM_001407959.1:c.1572dup NP_001394888.1:p.Lys525fs frameshift NM_001407960.1:c.1572dup NP_001394889.1:p.Lys525fs frameshift NM_001407962.1:c.1569dup NP_001394891.1:p.Lys524fs frameshift NM_001407963.1:c.1572dup NP_001394892.1:p.Lys525fs frameshift NM_001407964.1:c.1809dup NP_001394893.1:p.Lys604fs frameshift NM_001407965.1:c.1449dup NP_001394894.1:p.Lys484fs frameshift NM_001407966.1:c.1065dup NP_001394895.1:p.Lys356fs frameshift NM_001407967.1:c.1065dup NP_001394896.1:p.Lys356fs frameshift NM_001407968.1:c.787+1166dup intron variant NM_001407969.1:c.787+1166dup intron variant NM_001407970.1:c.787+1166dup intron variant NM_001407971.1:c.787+1166dup intron variant NM_001407972.1:c.784+1166dup intron variant NM_001407973.1:c.787+1166dup intron variant NM_001407974.1:c.787+1166dup intron variant NM_001407975.1:c.787+1166dup intron variant NM_001407976.1:c.787+1166dup intron variant NM_001407977.1:c.787+1166dup intron variant NM_001407978.1:c.787+1166dup intron variant NM_001407979.1:c.787+1166dup intron variant NM_001407980.1:c.787+1166dup intron variant NM_001407981.1:c.787+1166dup intron variant NM_001407982.1:c.787+1166dup intron variant NM_001407983.1:c.787+1166dup intron variant NM_001407984.1:c.784+1166dup intron variant NM_001407985.1:c.784+1166dup intron variant NM_001407986.1:c.784+1166dup intron variant NM_001407990.1:c.787+1166dup intron variant NM_001407991.1:c.784+1166dup intron variant NM_001407992.1:c.784+1166dup intron variant NM_001407993.1:c.787+1166dup intron variant NM_001408392.1:c.784+1166dup intron variant NM_001408396.1:c.784+1166dup intron variant NM_001408397.1:c.784+1166dup intron variant NM_001408398.1:c.784+1166dup intron variant NM_001408399.1:c.784+1166dup intron variant NM_001408400.1:c.784+1166dup intron variant NM_001408401.1:c.784+1166dup intron variant NM_001408402.1:c.784+1166dup intron variant NM_001408403.1:c.787+1166dup intron variant NM_001408404.1:c.787+1166dup intron variant NM_001408406.1:c.790+1163dup intron variant NM_001408407.1:c.784+1166dup intron variant NM_001408408.1:c.778+1166dup intron variant NM_001408409.1:c.709+1166dup intron variant NM_001408410.1:c.646+1166dup intron variant NM_001408411.1:c.709+1166dup intron variant NM_001408412.1:c.709+1166dup intron variant NM_001408413.1:c.706+1166dup intron variant NM_001408414.1:c.709+1166dup intron variant NM_001408415.1:c.709+1166dup intron variant NM_001408416.1:c.706+1166dup intron variant NM_001408418.1:c.670+2268dup intron variant NM_001408419.1:c.670+2268dup intron variant NM_001408420.1:c.670+2268dup intron variant NM_001408421.1:c.667+2268dup intron variant NM_001408422.1:c.670+2268dup intron variant NM_001408423.1:c.670+2268dup intron variant NM_001408424.1:c.667+2268dup intron variant NM_001408425.1:c.664+1166dup intron variant NM_001408426.1:c.664+1166dup intron variant NM_001408427.1:c.664+1166dup intron variant NM_001408428.1:c.664+1166dup intron variant NM_001408429.1:c.664+1166dup intron variant NM_001408430.1:c.664+1166dup intron variant NM_001408431.1:c.667+2268dup intron variant NM_001408432.1:c.661+1166dup intron variant NM_001408433.1:c.661+1166dup intron variant NM_001408434.1:c.661+1166dup intron variant NM_001408435.1:c.661+1166dup intron variant NM_001408436.1:c.664+1166dup intron variant NM_001408437.1:c.664+1166dup intron variant NM_001408438.1:c.664+1166dup intron variant NM_001408439.1:c.664+1166dup intron variant NM_001408440.1:c.664+1166dup intron variant NM_001408441.1:c.664+1166dup intron variant NM_001408442.1:c.664+1166dup intron variant NM_001408443.1:c.664+1166dup intron variant NM_001408444.1:c.664+1166dup intron variant NM_001408445.1:c.661+1166dup intron variant NM_001408446.1:c.661+1166dup intron variant NM_001408447.1:c.661+1166dup intron variant NM_001408448.1:c.661+1166dup intron variant NM_001408450.1:c.661+1166dup intron variant NM_001408451.1:c.652+1166dup intron variant NM_001408452.1:c.646+1166dup intron variant NM_001408453.1:c.646+1166dup intron variant NM_001408454.1:c.646+1166dup intron variant NM_001408455.1:c.646+1166dup intron variant NM_001408456.1:c.646+1166dup intron variant NM_001408457.1:c.646+1166dup intron variant NM_001408458.1:c.646+1166dup intron variant NM_001408459.1:c.646+1166dup intron variant NM_001408460.1:c.646+1166dup intron variant NM_001408461.1:c.646+1166dup intron variant NM_001408462.1:c.643+1166dup intron variant NM_001408463.1:c.643+1166dup intron variant NM_001408464.1:c.643+1166dup intron variant NM_001408465.1:c.643+1166dup intron variant NM_001408466.1:c.646+1166dup intron variant NM_001408467.1:c.646+1166dup intron variant NM_001408468.1:c.643+1166dup intron variant NM_001408469.1:c.646+1166dup intron variant NM_001408470.1:c.643+1166dup intron variant NM_001408472.1:c.787+1166dup intron variant NM_001408473.1:c.784+1166dup intron variant NM_001408474.1:c.586+1166dup intron variant NM_001408475.1:c.583+1166dup intron variant NM_001408476.1:c.586+1166dup intron variant NM_001408478.1:c.577+1166dup intron variant NM_001408479.1:c.577+1166dup intron variant NM_001408480.1:c.577+1166dup intron variant NM_001408481.1:c.577+1166dup intron variant NM_001408482.1:c.577+1166dup intron variant NM_001408483.1:c.577+1166dup intron variant NM_001408484.1:c.577+1166dup intron variant NM_001408485.1:c.577+1166dup intron variant NM_001408489.1:c.577+1166dup intron variant NM_001408490.1:c.574+1166dup intron variant NM_001408491.1:c.574+1166dup intron variant NM_001408492.1:c.577+1166dup intron variant NM_001408493.1:c.574+1166dup intron variant NM_001408494.1:c.548-2546dup intron variant NM_001408495.1:c.545-2546dup intron variant NM_001408496.1:c.523+1166dup intron variant NM_001408497.1:c.523+1166dup intron variant NM_001408498.1:c.523+1166dup intron variant NM_001408499.1:c.523+1166dup intron variant NM_001408500.1:c.523+1166dup intron variant NM_001408501.1:c.523+1166dup intron variant NM_001408502.1:c.454+1166dup intron variant NM_001408503.1:c.520+1166dup intron variant NM_001408504.1:c.520+1166dup intron variant NM_001408505.1:c.520+1166dup intron variant NM_001408506.1:c.460+2268dup intron variant NM_001408507.1:c.460+2268dup intron variant NM_001408508.1:c.451+1166dup intron variant NM_001408509.1:c.451+1166dup intron variant NM_001408510.1:c.406+1166dup intron variant NM_001408511.1:c.404-2546dup intron variant NM_001408512.1:c.283+1166dup intron variant NM_001408513.1:c.577+1166dup intron variant NM_001408514.1:c.577+1166dup intron variant NM_007294.3:c.1953dupG frameshift NM_007297.4:c.1812dup NP_009228.2:p.Lys605fs frameshift NM_007298.4:c.787+1166dup intron variant NM_007299.4:c.787+1166dup intron variant NM_007300.4:c.1953dup NP_009231.2:p.Lys652fs frameshift NR_027676.1:n.2089dup NC_000017.11:g.43093578dup NC_000017.10:g.41245595dup NG_005905.2:g.124406dup LRG_292:g.124406dup LRG_292t1:c.1953dup LRG_292p1:p.Lys652Glufs U14680.1:n.2072_2073insG - Protein change
- K605fs, K652fs, K484fs, K541fs, K563fs, K584fs, K649fs, K610fs, K626fs, K525fs, K564fs, K581fs, K604fs, K611fs, K540fs, K582fs, K625fs, K651fs, K356fs, K524fs, K585fs
- Other names
-
2072insG
- Canonical SPDI
- NC_000017.11:43093577:C:CC
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD), exomes 0.00000
- 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 |
13471 | 15364 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (2) |
criteria provided, single submitter
|
May 8, 2024 | RCV000496571.17 | |
| Pathogenic (3) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000111739.14 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 27, 2023 | RCV000222152.15 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Nov 7, 2015 | RCV000505827.10 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Sep 08, 2016)
C
Contributing to aggregate classification
|
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: SCV000299673.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Nov 07, 2015)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296408.3
First in ClinVar: Apr 04, 2014 Last updated: Jan 03, 2022 |
|
|
|
Pathogenic
(May 08, 2024)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001591060.5
First in ClinVar: May 10, 2021 Last updated: Feb 16, 2025 |
Comment:
This sequence change creates a premature translational stop signal (p.Lys652Glufs*21) 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.Lys652Glufs*21) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast or ovarian cancer (PMID: 25633036, 25802882, 26439132, 29215753). This variant is also known as c.1952_1953insG. ClinVar contains an entry for this variant (Variation ID: 54412). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Jan 15, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001354706.2
First in ClinVar: Mar 25, 2020 Last updated: Jan 15, 2022 |
Comment:
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant inserts 1 nucleotide in exon 10 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 not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
|
Pathogenic
(Oct 02, 2015)
N
Not contributing to aggregate classification
|
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: SCV000325198.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Oct 27, 2023)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000275953.7
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The c.1953dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 1953, causing a … (more)
The c.1953dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 1953, causing a translational frameshift with a predicted alternate stop codon (p.K652Efs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in a French Canadian family (Oros KK et al. Int. J. Cancer, 2004 Nov;112(3):411-9), as well as in a cohort of 115 women with breast cancer diagnosed at age 30 or younger (Evans DG et al. Br. J. Cancer, 2010 Mar;102:1091-8). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). Of note, this alteration is also designated as 2072insG in published literature. 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
(Apr 06, 1999)
N
Not contributing to aggregate classification
|
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: SCV000144257.1
First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014 |
Observation 1:
Number of individuals with the variant: 3
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: French Canadian
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
|
|
Pathogenic
(Jan 31, 2014)
N
Not contributing to aggregate classification
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587172.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
|
Comment:
Comment:
This sequence change creates a premature translational stop signal (p.Lys652Glufs*21) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast or ovarian cancer (PMID: 25633036, 25802882, 26439132, 29215753). This variant is also known as c.1952_1953insG. ClinVar contains an entry for this variant (Variation ID: 54412). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant inserts 1 nucleotide in exon 10 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 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.1953dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 1953, causing a translational frameshift with a predicted alternate stop codon (p.K652Efs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in a French Canadian family (Oros KK et al. Int. J. Cancer, 2004 Nov;112(3):411-9), as well as in a cohort of 115 women with breast cancer diagnosed at age 30 or younger (Evans DG et al. Br. J. Cancer, 2010 Mar;102:1091-8). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). Of note, this alteration is also designated as 2072insG in published literature. 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 sequence change creates a premature translational stop signal (p.Lys652Glufs*21) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast or ovarian cancer (PMID: 25633036, 25802882, 26439132, 29215753). This variant is also known as c.1952_1953insG. ClinVar contains an entry for this variant (Variation ID: 54412). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant inserts 1 nucleotide in exon 10 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 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.1953dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 1953, causing a translational frameshift with a predicted alternate stop codon (p.K652Efs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in a French Canadian family (Oros KK et al. Int. J. Cancer, 2004 Nov;112(3):411-9), as well as in a cohort of 115 women with breast cancer diagnosed at age 30 or younger (Evans DG et al. Br. J. Cancer, 2010 Mar;102:1091-8). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). Of note, this alteration is also designated as 2072insG in published literature. 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 |
| Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer. | Nakagomi H | Cancer science | 2018 | PMID: 29215753 |
| Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. | Yablonski-Peretz T | Breast cancer research and treatment | 2016 | PMID: 26687385 |
| BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. | Sakamoto I | Cancer | 2016 | PMID: 26439132 |
| Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. | Hirotsu Y | Molecular genetics & genomic medicine | 2015 | PMID: 25802882 |
| Low-level constitutional mosaicism of a de novoBRCA1 gene mutation. | Friedman E | British journal of cancer | 2015 | PMID: 25633036 |
| Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status. | Evans DG | British journal of cancer | 2010 | PMID: 20234365 |
| 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 |
| Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations. | Oros KK | International journal of cancer | 2004 | PMID: 15382066 |
Text-mined citations for rs80357753 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated May 17, 2025
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.