ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(2); Benign(3); Likely benign(4)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)
Variation ID: 54541 Accession: VCV000054541.22
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43093184 (GRCh38) [ NCBI UCSC ] 17: 41245201 (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 May 1, 2024 Jan 2, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.2347A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile783Val missense NM_001407571.1:c.2134A>G NP_001394500.1:p.Ile712Val missense NM_001407581.1:c.2347A>G NP_001394510.1:p.Ile783Val missense NM_001407582.1:c.2347A>G NP_001394511.1:p.Ile783Val missense NM_001407583.1:c.2347A>G NP_001394512.1:p.Ile783Val missense NM_001407585.1:c.2347A>G NP_001394514.1:p.Ile783Val missense NM_001407587.1:c.2344A>G NP_001394516.1:p.Ile782Val missense NM_001407590.1:c.2344A>G NP_001394519.1:p.Ile782Val missense NM_001407591.1:c.2344A>G NP_001394520.1:p.Ile782Val missense NM_001407593.1:c.2347A>G NP_001394522.1:p.Ile783Val missense NM_001407594.1:c.2347A>G NP_001394523.1:p.Ile783Val missense NM_001407596.1:c.2347A>G NP_001394525.1:p.Ile783Val missense NM_001407597.1:c.2347A>G NP_001394526.1:p.Ile783Val missense NM_001407598.1:c.2347A>G NP_001394527.1:p.Ile783Val missense NM_001407602.1:c.2347A>G NP_001394531.1:p.Ile783Val missense NM_001407603.1:c.2347A>G NP_001394532.1:p.Ile783Val missense NM_001407605.1:c.2347A>G NP_001394534.1:p.Ile783Val missense NM_001407610.1:c.2344A>G NP_001394539.1:p.Ile782Val missense NM_001407611.1:c.2344A>G NP_001394540.1:p.Ile782Val missense NM_001407612.1:c.2344A>G NP_001394541.1:p.Ile782Val missense NM_001407613.1:c.2344A>G NP_001394542.1:p.Ile782Val missense NM_001407614.1:c.2344A>G NP_001394543.1:p.Ile782Val missense NM_001407615.1:c.2344A>G NP_001394544.1:p.Ile782Val missense NM_001407616.1:c.2347A>G NP_001394545.1:p.Ile783Val missense NM_001407617.1:c.2347A>G NP_001394546.1:p.Ile783Val missense NM_001407618.1:c.2347A>G NP_001394547.1:p.Ile783Val missense NM_001407619.1:c.2347A>G NP_001394548.1:p.Ile783Val missense NM_001407620.1:c.2347A>G NP_001394549.1:p.Ile783Val missense NM_001407621.1:c.2347A>G NP_001394550.1:p.Ile783Val missense NM_001407622.1:c.2347A>G NP_001394551.1:p.Ile783Val missense NM_001407623.1:c.2347A>G NP_001394552.1:p.Ile783Val missense NM_001407624.1:c.2347A>G NP_001394553.1:p.Ile783Val missense NM_001407625.1:c.2347A>G NP_001394554.1:p.Ile783Val missense NM_001407626.1:c.2347A>G NP_001394555.1:p.Ile783Val missense NM_001407627.1:c.2344A>G NP_001394556.1:p.Ile782Val missense NM_001407628.1:c.2344A>G NP_001394557.1:p.Ile782Val missense NM_001407629.1:c.2344A>G NP_001394558.1:p.Ile782Val missense NM_001407630.1:c.2344A>G NP_001394559.1:p.Ile782Val missense NM_001407631.1:c.2344A>G NP_001394560.1:p.Ile782Val missense NM_001407632.1:c.2344A>G NP_001394561.1:p.Ile782Val missense NM_001407633.1:c.2344A>G NP_001394562.1:p.Ile782Val missense NM_001407634.1:c.2344A>G NP_001394563.1:p.Ile782Val missense NM_001407635.1:c.2344A>G NP_001394564.1:p.Ile782Val missense NM_001407636.1:c.2344A>G NP_001394565.1:p.Ile782Val missense NM_001407637.1:c.2344A>G NP_001394566.1:p.Ile782Val missense NM_001407638.1:c.2344A>G NP_001394567.1:p.Ile782Val missense NM_001407639.1:c.2347A>G NP_001394568.1:p.Ile783Val missense NM_001407640.1:c.2347A>G NP_001394569.1:p.Ile783Val missense NM_001407641.1:c.2347A>G NP_001394570.1:p.Ile783Val missense NM_001407642.1:c.2347A>G NP_001394571.1:p.Ile783Val missense NM_001407644.1:c.2344A>G NP_001394573.1:p.Ile782Val missense NM_001407645.1:c.2344A>G NP_001394574.1:p.Ile782Val missense NM_001407646.1:c.2338A>G NP_001394575.1:p.Ile780Val missense NM_001407647.1:c.2338A>G NP_001394576.1:p.Ile780Val missense NM_001407648.1:c.2224A>G NP_001394577.1:p.Ile742Val missense NM_001407649.1:c.2221A>G NP_001394578.1:p.Ile741Val missense NM_001407652.1:c.2347A>G NP_001394581.1:p.Ile783Val missense NM_001407653.1:c.2269A>G NP_001394582.1:p.Ile757Val missense NM_001407654.1:c.2269A>G NP_001394583.1:p.Ile757Val missense NM_001407655.1:c.2269A>G NP_001394584.1:p.Ile757Val missense NM_001407656.1:c.2269A>G NP_001394585.1:p.Ile757Val missense NM_001407657.1:c.2269A>G NP_001394586.1:p.Ile757Val missense NM_001407658.1:c.2269A>G NP_001394587.1:p.Ile757Val missense NM_001407659.1:c.2266A>G NP_001394588.1:p.Ile756Val missense NM_001407660.1:c.2266A>G NP_001394589.1:p.Ile756Val missense NM_001407661.1:c.2266A>G NP_001394590.1:p.Ile756Val missense NM_001407662.1:c.2266A>G NP_001394591.1:p.Ile756Val missense NM_001407663.1:c.2269A>G NP_001394592.1:p.Ile757Val missense NM_001407664.1:c.2224A>G NP_001394593.1:p.Ile742Val missense NM_001407665.1:c.2224A>G NP_001394594.1:p.Ile742Val missense NM_001407666.1:c.2224A>G NP_001394595.1:p.Ile742Val missense NM_001407667.1:c.2224A>G NP_001394596.1:p.Ile742Val missense NM_001407668.1:c.2224A>G NP_001394597.1:p.Ile742Val missense NM_001407669.1:c.2224A>G NP_001394598.1:p.Ile742Val missense NM_001407670.1:c.2221A>G NP_001394599.1:p.Ile741Val missense NM_001407671.1:c.2221A>G NP_001394600.1:p.Ile741Val missense NM_001407672.1:c.2221A>G NP_001394601.1:p.Ile741Val missense NM_001407673.1:c.2221A>G NP_001394602.1:p.Ile741Val missense NM_001407674.1:c.2224A>G NP_001394603.1:p.Ile742Val missense NM_001407675.1:c.2224A>G NP_001394604.1:p.Ile742Val missense NM_001407676.1:c.2224A>G NP_001394605.1:p.Ile742Val missense NM_001407677.1:c.2224A>G NP_001394606.1:p.Ile742Val missense NM_001407678.1:c.2224A>G NP_001394607.1:p.Ile742Val missense NM_001407679.1:c.2224A>G NP_001394608.1:p.Ile742Val missense NM_001407680.1:c.2224A>G NP_001394609.1:p.Ile742Val missense NM_001407681.1:c.2224A>G NP_001394610.1:p.Ile742Val missense NM_001407682.1:c.2224A>G NP_001394611.1:p.Ile742Val missense NM_001407683.1:c.2224A>G NP_001394612.1:p.Ile742Val missense NM_001407684.1:c.2347A>G NP_001394613.1:p.Ile783Val missense NM_001407685.1:c.2221A>G NP_001394614.1:p.Ile741Val missense NM_001407686.1:c.2221A>G NP_001394615.1:p.Ile741Val missense NM_001407687.1:c.2221A>G NP_001394616.1:p.Ile741Val missense NM_001407688.1:c.2221A>G NP_001394617.1:p.Ile741Val missense NM_001407689.1:c.2221A>G NP_001394618.1:p.Ile741Val missense NM_001407690.1:c.2221A>G NP_001394619.1:p.Ile741Val missense NM_001407691.1:c.2221A>G NP_001394620.1:p.Ile741Val missense NM_001407692.1:c.2206A>G NP_001394621.1:p.Ile736Val missense NM_001407694.1:c.2206A>G NP_001394623.1:p.Ile736Val missense NM_001407695.1:c.2206A>G NP_001394624.1:p.Ile736Val missense NM_001407696.1:c.2206A>G NP_001394625.1:p.Ile736Val missense NM_001407697.1:c.2206A>G NP_001394626.1:p.Ile736Val missense NM_001407698.1:c.2206A>G NP_001394627.1:p.Ile736Val missense NM_001407724.1:c.2206A>G NP_001394653.1:p.Ile736Val missense NM_001407725.1:c.2206A>G NP_001394654.1:p.Ile736Val missense NM_001407726.1:c.2206A>G NP_001394655.1:p.Ile736Val missense NM_001407727.1:c.2206A>G NP_001394656.1:p.Ile736Val missense NM_001407728.1:c.2206A>G NP_001394657.1:p.Ile736Val missense NM_001407729.1:c.2206A>G NP_001394658.1:p.Ile736Val missense NM_001407730.1:c.2206A>G NP_001394659.1:p.Ile736Val missense NM_001407731.1:c.2206A>G NP_001394660.1:p.Ile736Val missense NM_001407732.1:c.2206A>G NP_001394661.1:p.Ile736Val missense NM_001407733.1:c.2206A>G NP_001394662.1:p.Ile736Val missense NM_001407734.1:c.2206A>G NP_001394663.1:p.Ile736Val missense NM_001407735.1:c.2206A>G NP_001394664.1:p.Ile736Val missense NM_001407736.1:c.2206A>G NP_001394665.1:p.Ile736Val missense NM_001407737.1:c.2206A>G NP_001394666.1:p.Ile736Val missense NM_001407738.1:c.2206A>G NP_001394667.1:p.Ile736Val missense NM_001407739.1:c.2206A>G NP_001394668.1:p.Ile736Val missense NM_001407740.1:c.2203A>G NP_001394669.1:p.Ile735Val missense NM_001407741.1:c.2203A>G NP_001394670.1:p.Ile735Val missense NM_001407742.1:c.2203A>G NP_001394671.1:p.Ile735Val missense NM_001407743.1:c.2203A>G NP_001394672.1:p.Ile735Val missense NM_001407744.1:c.2203A>G NP_001394673.1:p.Ile735Val missense NM_001407745.1:c.2203A>G NP_001394674.1:p.Ile735Val missense NM_001407746.1:c.2203A>G NP_001394675.1:p.Ile735Val missense NM_001407747.1:c.2203A>G NP_001394676.1:p.Ile735Val missense NM_001407748.1:c.2203A>G NP_001394677.1:p.Ile735Val missense NM_001407749.1:c.2203A>G NP_001394678.1:p.Ile735Val missense NM_001407750.1:c.2206A>G NP_001394679.1:p.Ile736Val missense NM_001407751.1:c.2206A>G NP_001394680.1:p.Ile736Val missense NM_001407752.1:c.2206A>G NP_001394681.1:p.Ile736Val missense NM_001407838.1:c.2203A>G NP_001394767.1:p.Ile735Val missense NM_001407839.1:c.2203A>G NP_001394768.1:p.Ile735Val missense NM_001407841.1:c.2203A>G NP_001394770.1:p.Ile735Val missense NM_001407842.1:c.2203A>G NP_001394771.1:p.Ile735Val missense NM_001407843.1:c.2203A>G NP_001394772.1:p.Ile735Val missense NM_001407844.1:c.2203A>G NP_001394773.1:p.Ile735Val missense NM_001407845.1:c.2203A>G NP_001394774.1:p.Ile735Val missense NM_001407846.1:c.2203A>G NP_001394775.1:p.Ile735Val missense NM_001407847.1:c.2203A>G NP_001394776.1:p.Ile735Val missense NM_001407848.1:c.2203A>G NP_001394777.1:p.Ile735Val missense NM_001407849.1:c.2203A>G NP_001394778.1:p.Ile735Val missense NM_001407850.1:c.2206A>G NP_001394779.1:p.Ile736Val missense NM_001407851.1:c.2206A>G NP_001394780.1:p.Ile736Val missense NM_001407852.1:c.2206A>G NP_001394781.1:p.Ile736Val missense NM_001407853.1:c.2134A>G NP_001394782.1:p.Ile712Val missense NM_001407854.1:c.2347A>G NP_001394783.1:p.Ile783Val missense NM_001407858.1:c.2347A>G NP_001394787.1:p.Ile783Val missense NM_001407859.1:c.2347A>G NP_001394788.1:p.Ile783Val missense NM_001407860.1:c.2344A>G NP_001394789.1:p.Ile782Val missense NM_001407861.1:c.2344A>G NP_001394790.1:p.Ile782Val missense NM_001407862.1:c.2146A>G NP_001394791.1:p.Ile716Val missense NM_001407863.1:c.2224A>G NP_001394792.1:p.Ile742Val missense NM_001407874.1:c.2143A>G NP_001394803.1:p.Ile715Val missense NM_001407875.1:c.2143A>G NP_001394804.1:p.Ile715Val missense NM_001407879.1:c.2137A>G NP_001394808.1:p.Ile713Val missense NM_001407881.1:c.2137A>G NP_001394810.1:p.Ile713Val missense NM_001407882.1:c.2137A>G NP_001394811.1:p.Ile713Val missense NM_001407884.1:c.2137A>G NP_001394813.1:p.Ile713Val missense NM_001407885.1:c.2137A>G NP_001394814.1:p.Ile713Val missense NM_001407886.1:c.2137A>G NP_001394815.1:p.Ile713Val missense NM_001407887.1:c.2137A>G NP_001394816.1:p.Ile713Val missense NM_001407889.1:c.2137A>G NP_001394818.1:p.Ile713Val missense NM_001407894.1:c.2134A>G NP_001394823.1:p.Ile712Val missense NM_001407895.1:c.2134A>G NP_001394824.1:p.Ile712Val missense NM_001407896.1:c.2134A>G NP_001394825.1:p.Ile712Val missense NM_001407897.1:c.2134A>G NP_001394826.1:p.Ile712Val missense NM_001407898.1:c.2134A>G NP_001394827.1:p.Ile712Val missense NM_001407899.1:c.2134A>G NP_001394828.1:p.Ile712Val missense NM_001407900.1:c.2137A>G NP_001394829.1:p.Ile713Val missense NM_001407902.1:c.2137A>G NP_001394831.1:p.Ile713Val missense NM_001407904.1:c.2137A>G NP_001394833.1:p.Ile713Val missense NM_001407906.1:c.2137A>G NP_001394835.1:p.Ile713Val missense NM_001407907.1:c.2137A>G NP_001394836.1:p.Ile713Val missense NM_001407908.1:c.2137A>G NP_001394837.1:p.Ile713Val missense NM_001407909.1:c.2137A>G NP_001394838.1:p.Ile713Val missense NM_001407910.1:c.2137A>G NP_001394839.1:p.Ile713Val missense NM_001407915.1:c.2134A>G NP_001394844.1:p.Ile712Val missense NM_001407916.1:c.2134A>G NP_001394845.1:p.Ile712Val missense NM_001407917.1:c.2134A>G NP_001394846.1:p.Ile712Val missense NM_001407918.1:c.2134A>G NP_001394847.1:p.Ile712Val missense NM_001407919.1:c.2224A>G NP_001394848.1:p.Ile742Val missense NM_001407920.1:c.2083A>G NP_001394849.1:p.Ile695Val missense NM_001407921.1:c.2083A>G NP_001394850.1:p.Ile695Val missense NM_001407922.1:c.2083A>G NP_001394851.1:p.Ile695Val missense NM_001407923.1:c.2083A>G NP_001394852.1:p.Ile695Val missense NM_001407924.1:c.2083A>G NP_001394853.1:p.Ile695Val missense NM_001407925.1:c.2083A>G NP_001394854.1:p.Ile695Val missense NM_001407926.1:c.2083A>G NP_001394855.1:p.Ile695Val missense NM_001407927.1:c.2083A>G NP_001394856.1:p.Ile695Val missense NM_001407928.1:c.2083A>G NP_001394857.1:p.Ile695Val missense NM_001407929.1:c.2083A>G NP_001394858.1:p.Ile695Val missense NM_001407930.1:c.2080A>G NP_001394859.1:p.Ile694Val missense NM_001407931.1:c.2080A>G NP_001394860.1:p.Ile694Val missense NM_001407932.1:c.2080A>G NP_001394861.1:p.Ile694Val missense NM_001407933.1:c.2083A>G NP_001394862.1:p.Ile695Val missense NM_001407934.1:c.2080A>G NP_001394863.1:p.Ile694Val missense NM_001407935.1:c.2083A>G NP_001394864.1:p.Ile695Val missense NM_001407936.1:c.2080A>G NP_001394865.1:p.Ile694Val missense NM_001407937.1:c.2224A>G NP_001394866.1:p.Ile742Val missense NM_001407938.1:c.2224A>G NP_001394867.1:p.Ile742Val missense NM_001407939.1:c.2224A>G NP_001394868.1:p.Ile742Val missense NM_001407940.1:c.2221A>G NP_001394869.1:p.Ile741Val missense NM_001407941.1:c.2221A>G NP_001394870.1:p.Ile741Val missense NM_001407942.1:c.2206A>G NP_001394871.1:p.Ile736Val missense NM_001407943.1:c.2203A>G NP_001394872.1:p.Ile735Val missense NM_001407944.1:c.2206A>G NP_001394873.1:p.Ile736Val missense NM_001407945.1:c.2206A>G NP_001394874.1:p.Ile736Val missense NM_001407946.1:c.2014A>G NP_001394875.1:p.Ile672Val missense NM_001407947.1:c.2014A>G NP_001394876.1:p.Ile672Val missense NM_001407948.1:c.2014A>G NP_001394877.1:p.Ile672Val missense NM_001407949.1:c.2014A>G NP_001394878.1:p.Ile672Val missense NM_001407950.1:c.2014A>G NP_001394879.1:p.Ile672Val missense NM_001407951.1:c.2014A>G NP_001394880.1:p.Ile672Val missense NM_001407952.1:c.2014A>G NP_001394881.1:p.Ile672Val missense NM_001407953.1:c.2014A>G NP_001394882.1:p.Ile672Val missense NM_001407954.1:c.2011A>G NP_001394883.1:p.Ile671Val missense NM_001407955.1:c.2011A>G NP_001394884.1:p.Ile671Val missense NM_001407956.1:c.2011A>G NP_001394885.1:p.Ile671Val missense NM_001407957.1:c.2014A>G NP_001394886.1:p.Ile672Val missense NM_001407958.1:c.2011A>G NP_001394887.1:p.Ile671Val missense NM_001407959.1:c.1966A>G NP_001394888.1:p.Ile656Val missense NM_001407960.1:c.1966A>G NP_001394889.1:p.Ile656Val missense NM_001407962.1:c.1963A>G NP_001394891.1:p.Ile655Val missense NM_001407963.1:c.1966A>G NP_001394892.1:p.Ile656Val missense NM_001407964.1:c.2203A>G NP_001394893.1:p.Ile735Val missense NM_001407965.1:c.1843A>G NP_001394894.1:p.Ile615Val missense NM_001407966.1:c.1459A>G NP_001394895.1:p.Ile487Val missense NM_001407967.1:c.1459A>G NP_001394896.1:p.Ile487Val missense NM_001407968.1:c.788-1045A>G intron variant NM_001407969.1:c.788-1045A>G intron variant NM_001407970.1:c.787+1560A>G intron variant NM_001407971.1:c.787+1560A>G intron variant NM_001407972.1:c.784+1560A>G intron variant NM_001407973.1:c.787+1560A>G intron variant NM_001407974.1:c.787+1560A>G intron variant NM_001407975.1:c.787+1560A>G intron variant NM_001407976.1:c.787+1560A>G intron variant NM_001407977.1:c.787+1560A>G intron variant NM_001407978.1:c.787+1560A>G intron variant NM_001407979.1:c.787+1560A>G intron variant NM_001407980.1:c.787+1560A>G intron variant NM_001407981.1:c.787+1560A>G intron variant NM_001407982.1:c.787+1560A>G intron variant NM_001407983.1:c.787+1560A>G intron variant NM_001407984.1:c.784+1560A>G intron variant NM_001407985.1:c.784+1560A>G intron variant NM_001407986.1:c.784+1560A>G intron variant NM_001407990.1:c.787+1560A>G intron variant NM_001407991.1:c.784+1560A>G intron variant NM_001407992.1:c.784+1560A>G intron variant NM_001407993.1:c.787+1560A>G intron variant NM_001408392.1:c.784+1560A>G intron variant NM_001408396.1:c.784+1560A>G intron variant NM_001408397.1:c.784+1560A>G intron variant NM_001408398.1:c.784+1560A>G intron variant NM_001408399.1:c.784+1560A>G intron variant NM_001408400.1:c.784+1560A>G intron variant NM_001408401.1:c.784+1560A>G intron variant NM_001408402.1:c.784+1560A>G intron variant NM_001408403.1:c.787+1560A>G intron variant NM_001408404.1:c.787+1560A>G intron variant NM_001408406.1:c.790+1557A>G intron variant NM_001408407.1:c.784+1560A>G intron variant NM_001408408.1:c.778+1560A>G intron variant NM_001408409.1:c.709+1560A>G intron variant NM_001408410.1:c.646+1560A>G intron variant NM_001408411.1:c.709+1560A>G intron variant NM_001408412.1:c.709+1560A>G intron variant NM_001408413.1:c.706+1560A>G intron variant NM_001408414.1:c.709+1560A>G intron variant NM_001408415.1:c.709+1560A>G intron variant NM_001408416.1:c.706+1560A>G intron variant NM_001408418.1:c.671-2152A>G intron variant NM_001408419.1:c.671-2152A>G intron variant NM_001408420.1:c.671-2152A>G intron variant NM_001408421.1:c.668-2152A>G intron variant NM_001408422.1:c.671-2152A>G intron variant NM_001408423.1:c.671-2152A>G intron variant NM_001408424.1:c.668-2152A>G intron variant NM_001408425.1:c.664+1560A>G intron variant NM_001408426.1:c.664+1560A>G intron variant NM_001408427.1:c.664+1560A>G intron variant NM_001408428.1:c.664+1560A>G intron variant NM_001408429.1:c.664+1560A>G intron variant NM_001408430.1:c.664+1560A>G intron variant NM_001408431.1:c.668-2152A>G intron variant NM_001408432.1:c.661+1560A>G intron variant NM_001408433.1:c.661+1560A>G intron variant NM_001408434.1:c.661+1560A>G intron variant NM_001408435.1:c.661+1560A>G intron variant NM_001408436.1:c.664+1560A>G intron variant NM_001408437.1:c.664+1560A>G intron variant NM_001408438.1:c.664+1560A>G intron variant NM_001408439.1:c.664+1560A>G intron variant NM_001408440.1:c.664+1560A>G intron variant NM_001408441.1:c.664+1560A>G intron variant NM_001408442.1:c.664+1560A>G intron variant NM_001408443.1:c.664+1560A>G intron variant NM_001408444.1:c.664+1560A>G intron variant NM_001408445.1:c.661+1560A>G intron variant NM_001408446.1:c.661+1560A>G intron variant NM_001408447.1:c.661+1560A>G intron variant NM_001408448.1:c.661+1560A>G intron variant NM_001408450.1:c.661+1560A>G intron variant NM_001408451.1:c.652+1560A>G intron variant NM_001408452.1:c.646+1560A>G intron variant NM_001408453.1:c.646+1560A>G intron variant NM_001408454.1:c.646+1560A>G intron variant NM_001408455.1:c.646+1560A>G intron variant NM_001408456.1:c.646+1560A>G intron variant NM_001408457.1:c.646+1560A>G intron variant NM_001408458.1:c.646+1560A>G intron variant NM_001408459.1:c.646+1560A>G intron variant NM_001408460.1:c.646+1560A>G intron variant NM_001408461.1:c.646+1560A>G intron variant NM_001408462.1:c.643+1560A>G intron variant NM_001408463.1:c.643+1560A>G intron variant NM_001408464.1:c.643+1560A>G intron variant NM_001408465.1:c.643+1560A>G intron variant NM_001408466.1:c.646+1560A>G intron variant NM_001408467.1:c.646+1560A>G intron variant NM_001408468.1:c.643+1560A>G intron variant NM_001408469.1:c.646+1560A>G intron variant NM_001408470.1:c.643+1560A>G intron variant NM_001408472.1:c.787+1560A>G intron variant NM_001408473.1:c.784+1560A>G intron variant NM_001408474.1:c.586+1560A>G intron variant NM_001408475.1:c.583+1560A>G intron variant NM_001408476.1:c.586+1560A>G intron variant NM_001408478.1:c.577+1560A>G intron variant NM_001408479.1:c.577+1560A>G intron variant NM_001408480.1:c.577+1560A>G intron variant NM_001408481.1:c.577+1560A>G intron variant NM_001408482.1:c.577+1560A>G intron variant NM_001408483.1:c.577+1560A>G intron variant NM_001408484.1:c.577+1560A>G intron variant NM_001408485.1:c.577+1560A>G intron variant NM_001408489.1:c.577+1560A>G intron variant NM_001408490.1:c.574+1560A>G intron variant NM_001408491.1:c.574+1560A>G intron variant NM_001408492.1:c.577+1560A>G intron variant NM_001408493.1:c.574+1560A>G intron variant NM_001408494.1:c.548-2152A>G intron variant NM_001408495.1:c.545-2152A>G intron variant NM_001408496.1:c.523+1560A>G intron variant NM_001408497.1:c.523+1560A>G intron variant NM_001408498.1:c.523+1560A>G intron variant NM_001408499.1:c.523+1560A>G intron variant NM_001408500.1:c.523+1560A>G intron variant NM_001408501.1:c.523+1560A>G intron variant NM_001408502.1:c.454+1560A>G intron variant NM_001408503.1:c.520+1560A>G intron variant NM_001408504.1:c.520+1560A>G intron variant NM_001408505.1:c.520+1560A>G intron variant NM_001408506.1:c.461-2152A>G intron variant NM_001408507.1:c.461-2152A>G intron variant NM_001408508.1:c.451+1560A>G intron variant NM_001408509.1:c.451+1560A>G intron variant NM_001408510.1:c.406+1560A>G intron variant NM_001408511.1:c.404-2152A>G intron variant NM_001408512.1:c.283+1560A>G intron variant NM_001408513.1:c.577+1560A>G intron variant NM_001408514.1:c.577+1560A>G intron variant NM_007297.4:c.2206A>G NP_009228.2:p.Ile736Val missense NM_007298.4:c.787+1560A>G intron variant NM_007299.4:c.787+1560A>G intron variant NM_007300.4:c.2347A>G NP_009231.2:p.Ile783Val missense NR_027676.1:n.2483A>G NC_000017.11:g.43093184T>C NC_000017.10:g.41245201T>C NG_005905.2:g.124800A>G LRG_292:g.124800A>G LRG_292t1:c.2347A>G LRG_292p1:p.Ile783Val U14680.1:n.2466A>G - Protein change
- I783V, I736V, I695V, I712V, I715V, I780V, I656V, I671V, I735V, I742V, I757V, I487V, I655V, I694V, I716V, I782V, I615V, I672V, I713V, I741V, I756V
- Other names
- p.I783V:ATC>GTC
- Canonical SPDI
- NC_000017.11:43093183:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00007
Exome Aggregation Consortium (ExAC) 0.00008
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV000083181.18 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Mar 23, 2023 | RCV000130405.17 | |
Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 30, 2019 | RCV000590349.11 | |
Benign (1) |
no assertion criteria provided
|
- | RCV001353824.9 | |
Likely benign (1) |
criteria provided, single submitter
|
Jan 2, 2024 | RCV001417426.15 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Benign
(Sep 23, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000903502.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003847737.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
|
Benign
(Aug 29, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000185266.7
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
Likely benign
(Aug 11, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698943.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant summary: The c.2347A>G (p.Ile783Val) in BRCA1 gene is a missense change that involves a non-conserved nucleotide and 5/5 in silico tools predict benign outcome. … (more)
Variant summary: The c.2347A>G (p.Ile783Val) in BRCA1 gene is a missense change that involves a non-conserved nucleotide and 5/5 in silico tools predict benign outcome. The variant of interest is located outside of any known functional domain. The variant is present in the control population dataset of ExAC at an overall frequency 0.0001 (10/12134 chrs tested) exclusively in individuals of East Asian ancestry (0.0012; 10/8652 chrs tested). The latter frequency exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.001). The variant was absent in a cohort of 645 Chinese BrC cases but was found in two Chinese subjects one of whom had a benign breast disease. The variant has been reported as Benign/Likely Benign by several reputable databases/clinical laboratories. Population data suggest that the variant may be an ethnic-specific benign rare polymorphism. Taking together, the variant was classified as Likely Benign. (less)
|
|
Uncertain significance
(May 18, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296304.2
First in ClinVar: May 27, 2015 Last updated: Jan 03, 2022 |
Indication for testing: Hereditary breast and ovarian cancer syndrome (HBOC)
|
|
Uncertain significance
(Dec 18, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000488046.2
First in ClinVar: May 27, 2015 Last updated: Dec 24, 2022 |
|
|
Likely benign
(Oct 30, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000209936.12
First in ClinVar: Oct 12, 2016 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 30702160, 18779604, 14973102, 16267036, 15385441, 31825140)
|
|
Likely benign
(Jan 02, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001619627.4
First in ClinVar: May 16, 2021 Last updated: Feb 20, 2024 |
|
|
Benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004818192.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Number of individuals with the variant: 1
|
|
Benign
(May 01, 2012)
|
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: SCV000115255.4
First in ClinVar: Feb 06, 2014 Last updated: May 27, 2015 |
|
|
Uncertain significance
(Feb 20, 2004)
|
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: SCV000144386.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Asian, Chinese, Taiwanese
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591381.2 First in ClinVar: Oct 12, 2016 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Ile783Val variant was identified in at least 2 of 11262 probands referred for BRCA1/2 testing due to a personal history of early onset … (more)
The BRCA1 p.Ile783Val variant was identified in at least 2 of 11262 probands referred for BRCA1/2 testing due to a personal history of early onset breast or ovarian cancer, and/or a family history of breast and/or ovarian cancer (Kurian 2008, Judkins 2005); however control chromosomes from healthy individuals were not evaluated in these studies. It is listed in the dbSNP database (rs80356948) but no frequency information was provided, thus the prevalence of this variant in the general population could not be determined. Computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The p.Ile783 residue is not conserved in mammals and the variant amino acid valine (Val) is present in mouse, increasing the likelihood that this variant does not have clinical significance. In addition, the variant was classified as benign by the Sharing Clinical Reports Project (SCRP) (submitted within the ClinVar database and derived from Myriad reports). In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign. (less)
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Performance of BRCA1/2 mutation prediction models in Asian Americans. | Kurian AW | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18779604 |
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 |
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. | Pavlicek A | Human molecular genetics | 2004 | PMID: 15385441 |
BRCA1 and BRCA2 mutations in women from Shanghai China. | Suter NM | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2004 | PMID: 14973102 |
Text-mined citations for rs80356948 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.