Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
Germline
Reviewed by expert panel
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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…
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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.2199del (p.Lys734fs)
Variation ID: 91578 Accession: VCV000091578.30
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093332 (GRCh38) [ NCBI UCSC ] 17: 41245349 (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 Jun 29, 2025 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.2199del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys734fs frameshift NM_001407571.1:c.1986del NP_001394500.1:p.Lys663fs frameshift NM_001407581.1:c.2199del NP_001394510.1:p.Lys734fs frameshift NM_001407582.1:c.2199del NP_001394511.1:p.Lys734fs frameshift NM_001407583.1:c.2199del NP_001394512.1:p.Lys734fs frameshift NM_001407585.1:c.2199del NP_001394514.1:p.Lys734fs frameshift NM_001407587.1:c.2196del NP_001394516.1:p.Lys733fs frameshift NM_001407590.1:c.2196del NP_001394519.1:p.Lys733fs frameshift NM_001407591.1:c.2196del NP_001394520.1:p.Lys733fs frameshift NM_001407593.1:c.2199del NP_001394522.1:p.Lys734fs frameshift NM_001407594.1:c.2199del NP_001394523.1:p.Lys734fs frameshift NM_001407596.1:c.2199del NP_001394525.1:p.Lys734fs frameshift NM_001407597.1:c.2199del NP_001394526.1:p.Lys734fs frameshift NM_001407598.1:c.2199del NP_001394527.1:p.Lys734fs frameshift NM_001407602.1:c.2199del NP_001394531.1:p.Lys734fs frameshift NM_001407603.1:c.2199del NP_001394532.1:p.Lys734fs frameshift NM_001407605.1:c.2199del NP_001394534.1:p.Lys734fs frameshift NM_001407610.1:c.2196del NP_001394539.1:p.Lys733fs frameshift NM_001407611.1:c.2196del NP_001394540.1:p.Lys733fs frameshift NM_001407612.1:c.2196del NP_001394541.1:p.Lys733fs frameshift NM_001407613.1:c.2196del NP_001394542.1:p.Lys733fs frameshift NM_001407614.1:c.2196del NP_001394543.1:p.Lys733fs frameshift NM_001407615.1:c.2196del NP_001394544.1:p.Lys733fs frameshift NM_001407616.1:c.2199del NP_001394545.1:p.Lys734fs frameshift NM_001407617.1:c.2199del NP_001394546.1:p.Lys734fs frameshift NM_001407618.1:c.2199del NP_001394547.1:p.Lys734fs frameshift NM_001407619.1:c.2199del NP_001394548.1:p.Lys734fs frameshift NM_001407620.1:c.2199del NP_001394549.1:p.Lys734fs frameshift NM_001407621.1:c.2199del NP_001394550.1:p.Lys734fs frameshift NM_001407622.1:c.2199del NP_001394551.1:p.Lys734fs frameshift NM_001407623.1:c.2199del NP_001394552.1:p.Lys734fs frameshift NM_001407624.1:c.2199del NP_001394553.1:p.Lys734fs frameshift NM_001407625.1:c.2199del NP_001394554.1:p.Lys734fs frameshift NM_001407626.1:c.2199del NP_001394555.1:p.Lys734fs frameshift NM_001407627.1:c.2196del NP_001394556.1:p.Lys733fs frameshift NM_001407628.1:c.2196del NP_001394557.1:p.Lys733fs frameshift NM_001407629.1:c.2196del NP_001394558.1:p.Lys733fs frameshift NM_001407630.1:c.2196del NP_001394559.1:p.Lys733fs frameshift NM_001407631.1:c.2196del NP_001394560.1:p.Lys733fs frameshift NM_001407632.1:c.2196del NP_001394561.1:p.Lys733fs frameshift NM_001407633.1:c.2196del NP_001394562.1:p.Lys733fs frameshift NM_001407634.1:c.2196del NP_001394563.1:p.Lys733fs frameshift NM_001407635.1:c.2196del NP_001394564.1:p.Lys733fs frameshift NM_001407636.1:c.2196del NP_001394565.1:p.Lys733fs frameshift NM_001407637.1:c.2196del NP_001394566.1:p.Lys733fs frameshift NM_001407638.1:c.2196del NP_001394567.1:p.Lys733fs frameshift NM_001407639.1:c.2199del NP_001394568.1:p.Lys734fs frameshift NM_001407640.1:c.2199del NP_001394569.1:p.Lys734fs frameshift NM_001407641.1:c.2199del NP_001394570.1:p.Lys734fs frameshift NM_001407642.1:c.2199del NP_001394571.1:p.Lys734fs frameshift NM_001407644.1:c.2196del NP_001394573.1:p.Lys733fs frameshift NM_001407645.1:c.2196del NP_001394574.1:p.Lys733fs frameshift NM_001407646.1:c.2190del NP_001394575.1:p.Lys731fs frameshift NM_001407647.1:c.2190del NP_001394576.1:p.Lys731fs frameshift NM_001407648.1:c.2076del NP_001394577.1:p.Lys693fs frameshift NM_001407649.1:c.2073del NP_001394578.1:p.Lys692fs frameshift NM_001407652.1:c.2199del NP_001394581.1:p.Lys734fs frameshift NM_001407653.1:c.2121del NP_001394582.1:p.Lys708fs frameshift NM_001407654.1:c.2121del NP_001394583.1:p.Lys708fs frameshift NM_001407655.1:c.2121del NP_001394584.1:p.Lys708fs frameshift NM_001407656.1:c.2121del NP_001394585.1:p.Lys708fs frameshift NM_001407657.1:c.2121del NP_001394586.1:p.Lys708fs frameshift NM_001407658.1:c.2121del NP_001394587.1:p.Lys708fs frameshift NM_001407659.1:c.2118del NP_001394588.1:p.Lys707fs frameshift NM_001407660.1:c.2118del NP_001394589.1:p.Lys707fs frameshift NM_001407661.1:c.2118del NP_001394590.1:p.Lys707fs frameshift NM_001407662.1:c.2118del NP_001394591.1:p.Lys707fs frameshift NM_001407663.1:c.2121del NP_001394592.1:p.Lys708fs frameshift NM_001407664.1:c.2076del NP_001394593.1:p.Lys693fs frameshift NM_001407665.1:c.2076del NP_001394594.1:p.Lys693fs frameshift NM_001407666.1:c.2076del NP_001394595.1:p.Lys693fs frameshift NM_001407667.1:c.2076del NP_001394596.1:p.Lys693fs frameshift NM_001407668.1:c.2076del NP_001394597.1:p.Lys693fs frameshift NM_001407669.1:c.2076del NP_001394598.1:p.Lys693fs frameshift NM_001407670.1:c.2073del NP_001394599.1:p.Lys692fs frameshift NM_001407671.1:c.2073del NP_001394600.1:p.Lys692fs frameshift NM_001407672.1:c.2073del NP_001394601.1:p.Lys692fs frameshift NM_001407673.1:c.2073del NP_001394602.1:p.Lys692fs frameshift NM_001407674.1:c.2076del NP_001394603.1:p.Lys693fs frameshift NM_001407675.1:c.2076del NP_001394604.1:p.Lys693fs frameshift NM_001407676.1:c.2076del NP_001394605.1:p.Lys693fs frameshift NM_001407677.1:c.2076del NP_001394606.1:p.Lys693fs frameshift NM_001407678.1:c.2076del NP_001394607.1:p.Lys693fs frameshift NM_001407679.1:c.2076del NP_001394608.1:p.Lys693fs frameshift NM_001407680.1:c.2076del NP_001394609.1:p.Lys693fs frameshift NM_001407681.1:c.2076del NP_001394610.1:p.Lys693fs frameshift NM_001407682.1:c.2076del NP_001394611.1:p.Lys693fs frameshift NM_001407683.1:c.2076del NP_001394612.1:p.Lys693fs frameshift NM_001407684.1:c.2199del NP_001394613.1:p.Lys734fs frameshift NM_001407685.1:c.2073del NP_001394614.1:p.Lys692fs frameshift NM_001407686.1:c.2073del NP_001394615.1:p.Lys692fs frameshift NM_001407687.1:c.2073del NP_001394616.1:p.Lys692fs frameshift NM_001407688.1:c.2073del NP_001394617.1:p.Lys692fs frameshift NM_001407689.1:c.2073del NP_001394618.1:p.Lys692fs frameshift NM_001407690.1:c.2073del NP_001394619.1:p.Lys692fs frameshift NM_001407691.1:c.2073del NP_001394620.1:p.Lys692fs frameshift NM_001407692.1:c.2058del NP_001394621.1:p.Lys687fs frameshift NM_001407694.1:c.2058del NP_001394623.1:p.Lys687fs frameshift NM_001407695.1:c.2058del NP_001394624.1:p.Lys687fs frameshift NM_001407696.1:c.2058del NP_001394625.1:p.Lys687fs frameshift NM_001407697.1:c.2058del NP_001394626.1:p.Lys687fs frameshift NM_001407698.1:c.2058del NP_001394627.1:p.Lys687fs frameshift NM_001407724.1:c.2058del NP_001394653.1:p.Lys687fs frameshift NM_001407725.1:c.2058del NP_001394654.1:p.Lys687fs frameshift NM_001407726.1:c.2058del NP_001394655.1:p.Lys687fs frameshift NM_001407727.1:c.2058del NP_001394656.1:p.Lys687fs frameshift NM_001407728.1:c.2058del NP_001394657.1:p.Lys687fs frameshift NM_001407729.1:c.2058del NP_001394658.1:p.Lys687fs frameshift NM_001407730.1:c.2058del NP_001394659.1:p.Lys687fs frameshift NM_001407731.1:c.2058del NP_001394660.1:p.Lys687fs frameshift NM_001407732.1:c.2058del NP_001394661.1:p.Lys687fs frameshift NM_001407733.1:c.2058del NP_001394662.1:p.Lys687fs frameshift NM_001407734.1:c.2058del NP_001394663.1:p.Lys687fs frameshift NM_001407735.1:c.2058del NP_001394664.1:p.Lys687fs frameshift NM_001407736.1:c.2058del NP_001394665.1:p.Lys687fs frameshift NM_001407737.1:c.2058del NP_001394666.1:p.Lys687fs frameshift NM_001407738.1:c.2058del NP_001394667.1:p.Lys687fs frameshift NM_001407739.1:c.2058del NP_001394668.1:p.Lys687fs frameshift NM_001407740.1:c.2055del NP_001394669.1:p.Lys686fs frameshift NM_001407741.1:c.2055del NP_001394670.1:p.Lys686fs frameshift NM_001407742.1:c.2055del NP_001394671.1:p.Lys686fs frameshift NM_001407743.1:c.2055del NP_001394672.1:p.Lys686fs frameshift NM_001407744.1:c.2055del NP_001394673.1:p.Lys686fs frameshift NM_001407745.1:c.2055del NP_001394674.1:p.Lys686fs frameshift NM_001407746.1:c.2055del NP_001394675.1:p.Lys686fs frameshift NM_001407747.1:c.2055del NP_001394676.1:p.Lys686fs frameshift NM_001407748.1:c.2055del NP_001394677.1:p.Lys686fs frameshift NM_001407749.1:c.2055del NP_001394678.1:p.Lys686fs frameshift NM_001407750.1:c.2058del NP_001394679.1:p.Lys687fs frameshift NM_001407751.1:c.2058del NP_001394680.1:p.Lys687fs frameshift NM_001407752.1:c.2058del NP_001394681.1:p.Lys687fs frameshift NM_001407838.1:c.2055del NP_001394767.1:p.Lys686fs frameshift NM_001407839.1:c.2055del NP_001394768.1:p.Lys686fs frameshift NM_001407841.1:c.2055del NP_001394770.1:p.Lys686fs frameshift NM_001407842.1:c.2055del NP_001394771.1:p.Lys686fs frameshift NM_001407843.1:c.2055del NP_001394772.1:p.Lys686fs frameshift NM_001407844.1:c.2055del NP_001394773.1:p.Lys686fs frameshift NM_001407845.1:c.2055del NP_001394774.1:p.Lys686fs frameshift NM_001407846.1:c.2055del NP_001394775.1:p.Lys686fs frameshift NM_001407847.1:c.2055del NP_001394776.1:p.Lys686fs frameshift NM_001407848.1:c.2055del NP_001394777.1:p.Lys686fs frameshift NM_001407849.1:c.2055del NP_001394778.1:p.Lys686fs frameshift NM_001407850.1:c.2058del NP_001394779.1:p.Lys687fs frameshift NM_001407851.1:c.2058del NP_001394780.1:p.Lys687fs frameshift NM_001407852.1:c.2058del NP_001394781.1:p.Lys687fs frameshift NM_001407853.1:c.1986del NP_001394782.1:p.Lys663fs frameshift NM_001407854.1:c.2199del NP_001394783.1:p.Lys734fs frameshift NM_001407858.1:c.2199del NP_001394787.1:p.Lys734fs frameshift NM_001407859.1:c.2199del NP_001394788.1:p.Lys734fs frameshift NM_001407860.1:c.2196del NP_001394789.1:p.Lys733fs frameshift NM_001407861.1:c.2196del NP_001394790.1:p.Lys733fs frameshift NM_001407862.1:c.1998del NP_001394791.1:p.Lys667fs frameshift NM_001407863.1:c.2076del NP_001394792.1:p.Lys693fs frameshift NM_001407874.1:c.1995del NP_001394803.1:p.Lys666fs frameshift NM_001407875.1:c.1995del NP_001394804.1:p.Lys666fs frameshift NM_001407879.1:c.1989del NP_001394808.1:p.Lys664fs frameshift NM_001407881.1:c.1989del NP_001394810.1:p.Lys664fs frameshift NM_001407882.1:c.1989del NP_001394811.1:p.Lys664fs frameshift NM_001407884.1:c.1989del NP_001394813.1:p.Lys664fs frameshift NM_001407885.1:c.1989del NP_001394814.1:p.Lys664fs frameshift NM_001407886.1:c.1989del NP_001394815.1:p.Lys664fs frameshift NM_001407887.1:c.1989del NP_001394816.1:p.Lys664fs frameshift NM_001407889.1:c.1989del NP_001394818.1:p.Lys664fs frameshift NM_001407894.1:c.1986del NP_001394823.1:p.Lys663fs frameshift NM_001407895.1:c.1986del NP_001394824.1:p.Lys663fs frameshift NM_001407896.1:c.1986del NP_001394825.1:p.Lys663fs frameshift NM_001407897.1:c.1986del NP_001394826.1:p.Lys663fs frameshift NM_001407898.1:c.1986del NP_001394827.1:p.Lys663fs frameshift NM_001407899.1:c.1986del NP_001394828.1:p.Lys663fs frameshift NM_001407900.1:c.1989del NP_001394829.1:p.Lys664fs frameshift NM_001407902.1:c.1989del NP_001394831.1:p.Lys664fs frameshift NM_001407904.1:c.1989del NP_001394833.1:p.Lys664fs frameshift NM_001407906.1:c.1989del NP_001394835.1:p.Lys664fs frameshift NM_001407907.1:c.1989del NP_001394836.1:p.Lys664fs frameshift NM_001407908.1:c.1989del NP_001394837.1:p.Lys664fs frameshift NM_001407909.1:c.1989del NP_001394838.1:p.Lys664fs frameshift NM_001407910.1:c.1989del NP_001394839.1:p.Lys664fs frameshift NM_001407915.1:c.1986del NP_001394844.1:p.Lys663fs frameshift NM_001407916.1:c.1986del NP_001394845.1:p.Lys663fs frameshift NM_001407917.1:c.1986del NP_001394846.1:p.Lys663fs frameshift NM_001407918.1:c.1986del NP_001394847.1:p.Lys663fs frameshift NM_001407919.1:c.2076del NP_001394848.1:p.Lys693fs frameshift NM_001407920.1:c.1935del NP_001394849.1:p.Lys646fs frameshift NM_001407921.1:c.1935del NP_001394850.1:p.Lys646fs frameshift NM_001407922.1:c.1935del NP_001394851.1:p.Lys646fs frameshift NM_001407923.1:c.1935del NP_001394852.1:p.Lys646fs frameshift NM_001407924.1:c.1935del NP_001394853.1:p.Lys646fs frameshift NM_001407925.1:c.1935del NP_001394854.1:p.Lys646fs frameshift NM_001407926.1:c.1935del NP_001394855.1:p.Lys646fs frameshift NM_001407927.1:c.1935del NP_001394856.1:p.Lys646fs frameshift NM_001407928.1:c.1935del NP_001394857.1:p.Lys646fs frameshift NM_001407929.1:c.1935del NP_001394858.1:p.Lys646fs frameshift NM_001407930.1:c.1932del NP_001394859.1:p.Lys645fs frameshift NM_001407931.1:c.1932del NP_001394860.1:p.Lys645fs frameshift NM_001407932.1:c.1932del NP_001394861.1:p.Lys645fs frameshift NM_001407933.1:c.1935del NP_001394862.1:p.Lys646fs frameshift NM_001407934.1:c.1932del NP_001394863.1:p.Lys645fs frameshift NM_001407935.1:c.1935del NP_001394864.1:p.Lys646fs frameshift NM_001407936.1:c.1932del NP_001394865.1:p.Lys645fs frameshift NM_001407937.1:c.2076del NP_001394866.1:p.Lys693fs frameshift NM_001407938.1:c.2076del NP_001394867.1:p.Lys693fs frameshift NM_001407939.1:c.2076del NP_001394868.1:p.Lys693fs frameshift NM_001407940.1:c.2073del NP_001394869.1:p.Lys692fs frameshift NM_001407941.1:c.2073del NP_001394870.1:p.Lys692fs frameshift NM_001407942.1:c.2058del NP_001394871.1:p.Lys687fs frameshift NM_001407943.1:c.2055del NP_001394872.1:p.Lys686fs frameshift NM_001407944.1:c.2058del NP_001394873.1:p.Lys687fs frameshift NM_001407945.1:c.2058del NP_001394874.1:p.Lys687fs frameshift NM_001407946.1:c.1866del NP_001394875.1:p.Lys623fs frameshift NM_001407947.1:c.1866del NP_001394876.1:p.Lys623fs frameshift NM_001407948.1:c.1866del NP_001394877.1:p.Lys623fs frameshift NM_001407949.1:c.1866del NP_001394878.1:p.Lys623fs frameshift NM_001407950.1:c.1866del NP_001394879.1:p.Lys623fs frameshift NM_001407951.1:c.1866del NP_001394880.1:p.Lys623fs frameshift NM_001407952.1:c.1866del NP_001394881.1:p.Lys623fs frameshift NM_001407953.1:c.1866del NP_001394882.1:p.Lys623fs frameshift NM_001407954.1:c.1863del NP_001394883.1:p.Lys622fs frameshift NM_001407955.1:c.1863del NP_001394884.1:p.Lys622fs frameshift NM_001407956.1:c.1863del NP_001394885.1:p.Lys622fs frameshift NM_001407957.1:c.1866del NP_001394886.1:p.Lys623fs frameshift NM_001407958.1:c.1863del NP_001394887.1:p.Lys622fs frameshift NM_001407959.1:c.1818del NP_001394888.1:p.Lys607fs frameshift NM_001407960.1:c.1818del NP_001394889.1:p.Lys607fs frameshift NM_001407962.1:c.1815del NP_001394891.1:p.Lys606fs frameshift NM_001407963.1:c.1818del NP_001394892.1:p.Lys607fs frameshift NM_001407964.1:c.2055del NP_001394893.1:p.Lys686fs frameshift NM_001407965.1:c.1695del NP_001394894.1:p.Lys566fs frameshift NM_001407966.1:c.1311del NP_001394895.1:p.Lys438fs frameshift NM_001407967.1:c.1311del NP_001394896.1:p.Lys438fs frameshift NM_001407968.1:c.788-1193del intron variant NM_001407969.1:c.788-1193del intron variant NM_001407970.1:c.787+1412del intron variant NM_001407971.1:c.787+1412del intron variant NM_001407972.1:c.784+1412del intron variant NM_001407973.1:c.787+1412del intron variant NM_001407974.1:c.787+1412del intron variant NM_001407975.1:c.787+1412del intron variant NM_001407976.1:c.787+1412del intron variant NM_001407977.1:c.787+1412del intron variant NM_001407978.1:c.787+1412del intron variant NM_001407979.1:c.787+1412del intron variant NM_001407980.1:c.787+1412del intron variant NM_001407981.1:c.787+1412del intron variant NM_001407982.1:c.787+1412del intron variant NM_001407983.1:c.787+1412del intron variant NM_001407984.1:c.784+1412del intron variant NM_001407985.1:c.784+1412del intron variant NM_001407986.1:c.784+1412del intron variant NM_001407990.1:c.787+1412del intron variant NM_001407991.1:c.784+1412del intron variant NM_001407992.1:c.784+1412del intron variant NM_001407993.1:c.787+1412del intron variant NM_001408392.1:c.784+1412del intron variant NM_001408396.1:c.784+1412del intron variant NM_001408397.1:c.784+1412del intron variant NM_001408398.1:c.784+1412del intron variant NM_001408399.1:c.784+1412del intron variant NM_001408400.1:c.784+1412del intron variant NM_001408401.1:c.784+1412del intron variant NM_001408402.1:c.784+1412del intron variant NM_001408403.1:c.787+1412del intron variant NM_001408404.1:c.787+1412del intron variant NM_001408406.1:c.790+1409del intron variant NM_001408407.1:c.784+1412del intron variant NM_001408408.1:c.778+1412del intron variant NM_001408409.1:c.709+1412del intron variant NM_001408410.1:c.646+1412del intron variant NM_001408411.1:c.709+1412del intron variant NM_001408412.1:c.709+1412del intron variant NM_001408413.1:c.706+1412del intron variant NM_001408414.1:c.709+1412del intron variant NM_001408415.1:c.709+1412del intron variant NM_001408416.1:c.706+1412del intron variant NM_001408418.1:c.671-2300del intron variant NM_001408419.1:c.671-2300del intron variant NM_001408420.1:c.671-2300del intron variant NM_001408421.1:c.668-2300del intron variant NM_001408422.1:c.671-2300del intron variant NM_001408423.1:c.671-2300del intron variant NM_001408424.1:c.668-2300del intron variant NM_001408425.1:c.664+1412del intron variant NM_001408426.1:c.664+1412del intron variant NM_001408427.1:c.664+1412del intron variant NM_001408428.1:c.664+1412del intron variant NM_001408429.1:c.664+1412del intron variant NM_001408430.1:c.664+1412del intron variant NM_001408431.1:c.668-2300del intron variant NM_001408432.1:c.661+1412del intron variant NM_001408433.1:c.661+1412del intron variant NM_001408434.1:c.661+1412del intron variant NM_001408435.1:c.661+1412del intron variant NM_001408436.1:c.664+1412del intron variant NM_001408437.1:c.664+1412del intron variant NM_001408438.1:c.664+1412del intron variant NM_001408439.1:c.664+1412del intron variant NM_001408440.1:c.664+1412del intron variant NM_001408441.1:c.664+1412del intron variant NM_001408442.1:c.664+1412del intron variant NM_001408443.1:c.664+1412del intron variant NM_001408444.1:c.664+1412del intron variant NM_001408445.1:c.661+1412del intron variant NM_001408446.1:c.661+1412del intron variant NM_001408447.1:c.661+1412del intron variant NM_001408448.1:c.661+1412del intron variant NM_001408450.1:c.661+1412del intron variant NM_001408451.1:c.652+1412del intron variant NM_001408452.1:c.646+1412del intron variant NM_001408453.1:c.646+1412del intron variant NM_001408454.1:c.646+1412del intron variant NM_001408455.1:c.646+1412del intron variant NM_001408456.1:c.646+1412del intron variant NM_001408457.1:c.646+1412del intron variant NM_001408458.1:c.646+1412del intron variant NM_001408459.1:c.646+1412del intron variant NM_001408460.1:c.646+1412del intron variant NM_001408461.1:c.646+1412del intron variant NM_001408462.1:c.643+1412del intron variant NM_001408463.1:c.643+1412del intron variant NM_001408464.1:c.643+1412del intron variant NM_001408465.1:c.643+1412del intron variant NM_001408466.1:c.646+1412del intron variant NM_001408467.1:c.646+1412del intron variant NM_001408468.1:c.643+1412del intron variant NM_001408469.1:c.646+1412del intron variant NM_001408470.1:c.643+1412del intron variant NM_001408472.1:c.787+1412del intron variant NM_001408473.1:c.784+1412del intron variant NM_001408474.1:c.586+1412del intron variant NM_001408475.1:c.583+1412del intron variant NM_001408476.1:c.586+1412del intron variant NM_001408478.1:c.577+1412del intron variant NM_001408479.1:c.577+1412del intron variant NM_001408480.1:c.577+1412del intron variant NM_001408481.1:c.577+1412del intron variant NM_001408482.1:c.577+1412del intron variant NM_001408483.1:c.577+1412del intron variant NM_001408484.1:c.577+1412del intron variant NM_001408485.1:c.577+1412del intron variant NM_001408489.1:c.577+1412del intron variant NM_001408490.1:c.574+1412del intron variant NM_001408491.1:c.574+1412del intron variant NM_001408492.1:c.577+1412del intron variant NM_001408493.1:c.574+1412del intron variant NM_001408494.1:c.548-2300del intron variant NM_001408495.1:c.545-2300del intron variant NM_001408496.1:c.523+1412del intron variant NM_001408497.1:c.523+1412del intron variant NM_001408498.1:c.523+1412del intron variant NM_001408499.1:c.523+1412del intron variant NM_001408500.1:c.523+1412del intron variant NM_001408501.1:c.523+1412del intron variant NM_001408502.1:c.454+1412del intron variant NM_001408503.1:c.520+1412del intron variant NM_001408504.1:c.520+1412del intron variant NM_001408505.1:c.520+1412del intron variant NM_001408506.1:c.461-2300del intron variant NM_001408507.1:c.461-2300del intron variant NM_001408508.1:c.451+1412del intron variant NM_001408509.1:c.451+1412del intron variant NM_001408510.1:c.406+1412del intron variant NM_001408511.1:c.404-2300del intron variant NM_001408512.1:c.283+1412del intron variant NM_001408513.1:c.577+1412del intron variant NM_001408514.1:c.577+1412del intron variant NM_007297.4:c.2058del NP_009228.2:p.Lys687fs frameshift NM_007298.4:c.787+1412del intron variant NM_007299.4:c.787+1412del intron variant NM_007300.4:c.2199del NP_009231.2:p.Lys734fs frameshift NR_027676.1:n.2335delG NC_000017.11:g.43093332del NC_000017.10:g.41245349del NG_005905.2:g.124652del LRG_292:g.124652del LRG_292t1:c.2199del LRG_292p1:p.Lys734Asnfs U14680.1:n.2318delG - Protein change
- K687fs, K734fs, K438fs, K622fs, K645fs, K663fs, K667fs, K731fs, K733fs, K566fs, K606fs, K664fs, K666fs, K686fs, K693fs, K607fs, K623fs, K708fs, K646fs, K692fs, K707fs
- Other names
-
2318delG
- Canonical SPDI
- NC_000017.11:43093331: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.
- -
-
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 |
13487 | 15382 | |
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 | RCV000077095.17 | |
| Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Nov 15, 2023 | RCV000235485.16 | |
| Pathogenic (2) |
criteria provided, single submitter
|
Dec 26, 2024 | RCV000496526.19 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Sep 5, 2023 | RCV000771401.16 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Aug 21, 2020 | RCV005394335.1 |
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: SCV000299715.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Likely pathogenic
(May 30, 2023)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003819089.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
|
|
|
Pathogenic
(Jun 14, 2021)
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: SCV002728608.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.2199delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2199, causing … (more)
The c.2199delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2199, causing a translational frameshift with a predicted alternate stop codon (p.K734Nfs*2). This alteration, designated as 2318delG, has been identified in breast and pancreatic cancer patients (Al-Sukhni W et al. Hum Genet. 2008 Oct;124:271-8; Eccles DM et al. Ann Oncol. 2016 Mar;27:467-73). This alteration has also identified in a large, worldwide study of BRCA1/2 mutation-positive families (Rebbeck TR et al. Hum Mutat. 2018 05;39:593-620). 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)
|
|
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Pathogenic
(Nov 15, 2023)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000292511.10
First in ClinVar: Jul 24, 2016 Last updated: Jul 23, 2024 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of … (more)
Frameshift 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 at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2318del; This variant is associated with the following publications: (PMID: 16267036, 25072261, 18762988, 26681682, 29446198) (less)
|
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pathogenic
(Oct 19, 2023)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887639.3
First in ClinVar: Jul 24, 2016 Last updated: Jan 19, 2025 |
Comment:
The BRCA1 c.2199del (p.Lys734Asnfs*2) variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant … (more)
The BRCA1 c.2199del (p.Lys734Asnfs*2) variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals with breast cancer (PMID: 26681682 (2016)), and pancreatic cancer (PMID: 18762988 (2008), 25072261 (2014)). This variant has also been reported in a large, worldwide study of families with BRCA1/2 mutations (PMID: 29446198 (2018)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. (less)
|
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Pathogenic
(Dec 26, 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: SCV000958701.7
First in ClinVar: Aug 14, 2019 Last updated: Feb 25, 2025 |
Comment:
This sequence change creates a premature translational stop signal (p.Lys734Asnfs*2) 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.Lys734Asnfs*2) 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 pancreatic cancer and breast cancer (PMID: 18762988, 26681682, 29446198). ClinVar contains an entry for this variant (Variation ID: 91578). For these reasons, this variant has been classified as Pathogenic. (less)
|
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Pathogenic
(Aug 21, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: no
Allele origin:
germline
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Accession: SCV006058311.1
First in ClinVar: Apr 28, 2025 Last updated: Apr 28, 2025 |
|
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Pathogenic
(Sep 05, 2023)
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: SCV000903749.5
First in ClinVar: May 20, 2019 Last updated: May 03, 2025 |
Comment:
This variant deletes 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 deletes 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. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual each affected with breast cancer and pancreatic cancer (PMID: 18762988, 26681682) and in 4 families among the CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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)
Platform type: NGS
|
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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: SCV000325285.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
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Pathogenic
(May 29, 2002)
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: SCV000144332.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 2
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: SCV000587198.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
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Pathogenic
(May 01, 2012)
N
Not contributing to aggregate classification
|
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: SCV000108892.4
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
|
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Pathogenic
(Feb 28, 2018)
N
Not contributing to aggregate classification
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000786107.3
First in ClinVar: Nov 05, 2016 Last updated: Jun 29, 2025 |
Comment:
This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
|
|
| click to load more submissions click to collapse | |||||
Comment:
Comment:
The c.2199delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2199, causing a translational frameshift with a predicted alternate stop codon (p.K734Nfs*2). This alteration, designated as 2318delG, has been identified in breast and pancreatic cancer patients (Al-Sukhni W et al. Hum Genet. 2008 Oct;124:271-8; Eccles DM et al. Ann Oncol. 2016 Mar;27:467-73). This alteration has also identified in a large, worldwide study of BRCA1/2 mutation-positive families (Rebbeck TR et al. Hum Mutat. 2018 05;39:593-620). 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.
Comment:
Frameshift 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 at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2318del; This variant is associated with the following publications: (PMID: 16267036, 25072261, 18762988, 26681682, 29446198)
Comment:
The BRCA1 c.2199del (p.Lys734Asnfs*2) variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals with breast cancer (PMID: 26681682 (2016)), and pancreatic cancer (PMID: 18762988 (2008), 25072261 (2014)). This variant has also been reported in a large, worldwide study of families with BRCA1/2 mutations (PMID: 29446198 (2018)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Lys734Asnfs*2) 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 pancreatic cancer and breast cancer (PMID: 18762988, 26681682, 29446198). ClinVar contains an entry for this variant (Variation ID: 91578). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant deletes 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. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual each affected with breast cancer and pancreatic cancer (PMID: 18762988, 26681682) and in 4 families among the CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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:
This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
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:
The c.2199delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2199, causing a translational frameshift with a predicted alternate stop codon (p.K734Nfs*2). This alteration, designated as 2318delG, has been identified in breast and pancreatic cancer patients (Al-Sukhni W et al. Hum Genet. 2008 Oct;124:271-8; Eccles DM et al. Ann Oncol. 2016 Mar;27:467-73). This alteration has also identified in a large, worldwide study of BRCA1/2 mutation-positive families (Rebbeck TR et al. Hum Mutat. 2018 05;39:593-620). 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.
Comment:
Frameshift 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 at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2318del; This variant is associated with the following publications: (PMID: 16267036, 25072261, 18762988, 26681682, 29446198)
Comment:
The BRCA1 c.2199del (p.Lys734Asnfs*2) variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals with breast cancer (PMID: 26681682 (2016)), and pancreatic cancer (PMID: 18762988 (2008), 25072261 (2014)). This variant has also been reported in a large, worldwide study of families with BRCA1/2 mutations (PMID: 29446198 (2018)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Lys734Asnfs*2) 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 pancreatic cancer and breast cancer (PMID: 18762988, 26681682, 29446198). ClinVar contains an entry for this variant (Variation ID: 91578). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant deletes 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. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual each affected with breast cancer and pancreatic cancer (PMID: 18762988, 26681682) and in 4 families among the CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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:
This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
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 |
| Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. | Copson ER | The Lancet. Oncology | 2018 | PMID: 29337092 |
| Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). | Lebo MS | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 28726806 |
| Genetic testing in a cohort of young patients with HER2-amplified breast cancer. | Eccles DM | Annals of oncology : official journal of the European Society for Medical Oncology | 2016 | PMID: 26681682 |
| Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers. | Golan T | British journal of cancer | 2014 | PMID: 25072261 |
| 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 |
| Germline BRCA1 mutations predispose to pancreatic adenocarcinoma. | Al-Sukhni W | Human genetics | 2008 | PMID: 18762988 |
| Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
Text-mined citations for rs80357944 ...
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Record last updated Jun 29, 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.