ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.547G>C (p.Gly183Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.547G>C (p.Gly183Arg)
Variation ID: 431353 Accession: VCV000431353.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43099775 (GRCh38) [ NCBI UCSC ] 17: 41251792 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 7, 2017 Aug 7, 2017 Apr 20, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.547G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly183Arg missense NM_001407571.1:c.334G>C NP_001394500.1:p.Gly112Arg missense NM_001407581.1:c.547G>C NP_001394510.1:p.Gly183Arg missense NM_001407582.1:c.547G>C NP_001394511.1:p.Gly183Arg missense NM_001407583.1:c.547G>C NP_001394512.1:p.Gly183Arg missense NM_001407585.1:c.547G>C NP_001394514.1:p.Gly183Arg missense NM_001407587.1:c.544G>C NP_001394516.1:p.Gly182Arg missense NM_001407590.1:c.544G>C NP_001394519.1:p.Gly182Arg missense NM_001407591.1:c.544G>C NP_001394520.1:p.Gly182Arg missense NM_001407593.1:c.547G>C NP_001394522.1:p.Gly183Arg missense NM_001407594.1:c.547G>C NP_001394523.1:p.Gly183Arg missense NM_001407596.1:c.547G>C NP_001394525.1:p.Gly183Arg missense NM_001407597.1:c.547G>C NP_001394526.1:p.Gly183Arg missense NM_001407598.1:c.547G>C NP_001394527.1:p.Gly183Arg missense NM_001407602.1:c.547G>C NP_001394531.1:p.Gly183Arg missense NM_001407603.1:c.547G>C NP_001394532.1:p.Gly183Arg missense NM_001407605.1:c.547G>C NP_001394534.1:p.Gly183Arg missense NM_001407610.1:c.544G>C NP_001394539.1:p.Gly182Arg missense NM_001407611.1:c.544G>C NP_001394540.1:p.Gly182Arg missense NM_001407612.1:c.544G>C NP_001394541.1:p.Gly182Arg missense NM_001407613.1:c.544G>C NP_001394542.1:p.Gly182Arg missense NM_001407614.1:c.544G>C NP_001394543.1:p.Gly182Arg missense NM_001407615.1:c.544G>C NP_001394544.1:p.Gly182Arg missense NM_001407616.1:c.547G>C NP_001394545.1:p.Gly183Arg missense NM_001407617.1:c.547G>C NP_001394546.1:p.Gly183Arg missense NM_001407618.1:c.547G>C NP_001394547.1:p.Gly183Arg missense NM_001407619.1:c.547G>C NP_001394548.1:p.Gly183Arg missense NM_001407620.1:c.547G>C NP_001394549.1:p.Gly183Arg missense NM_001407621.1:c.547G>C NP_001394550.1:p.Gly183Arg missense NM_001407622.1:c.547G>C NP_001394551.1:p.Gly183Arg missense NM_001407623.1:c.547G>C NP_001394552.1:p.Gly183Arg missense NM_001407624.1:c.547G>C NP_001394553.1:p.Gly183Arg missense NM_001407625.1:c.547G>C NP_001394554.1:p.Gly183Arg missense NM_001407626.1:c.547G>C NP_001394555.1:p.Gly183Arg missense NM_001407627.1:c.544G>C NP_001394556.1:p.Gly182Arg missense NM_001407628.1:c.544G>C NP_001394557.1:p.Gly182Arg missense NM_001407629.1:c.544G>C NP_001394558.1:p.Gly182Arg missense NM_001407630.1:c.544G>C NP_001394559.1:p.Gly182Arg missense NM_001407631.1:c.544G>C NP_001394560.1:p.Gly182Arg missense NM_001407632.1:c.544G>C NP_001394561.1:p.Gly182Arg missense NM_001407633.1:c.544G>C NP_001394562.1:p.Gly182Arg missense NM_001407634.1:c.544G>C NP_001394563.1:p.Gly182Arg missense NM_001407635.1:c.544G>C NP_001394564.1:p.Gly182Arg missense NM_001407636.1:c.544G>C NP_001394565.1:p.Gly182Arg missense NM_001407637.1:c.544G>C NP_001394566.1:p.Gly182Arg missense NM_001407638.1:c.544G>C NP_001394567.1:p.Gly182Arg missense NM_001407639.1:c.547G>C NP_001394568.1:p.Gly183Arg missense NM_001407640.1:c.547G>C NP_001394569.1:p.Gly183Arg missense NM_001407641.1:c.547G>C NP_001394570.1:p.Gly183Arg missense NM_001407642.1:c.547G>C NP_001394571.1:p.Gly183Arg missense NM_001407644.1:c.544G>C NP_001394573.1:p.Gly182Arg missense NM_001407645.1:c.544G>C NP_001394574.1:p.Gly182Arg missense NM_001407646.1:c.538G>C NP_001394575.1:p.Gly180Arg missense NM_001407647.1:c.538G>C NP_001394576.1:p.Gly180Arg missense NM_001407648.1:c.547G>C NP_001394577.1:p.Ala183Pro missense NM_001407649.1:c.544G>C NP_001394578.1:p.Ala182Pro missense NM_001407652.1:c.547G>C NP_001394581.1:p.Gly183Arg missense NM_001407653.1:c.469G>C NP_001394582.1:p.Gly157Arg missense NM_001407654.1:c.469G>C NP_001394583.1:p.Gly157Arg missense NM_001407655.1:c.469G>C NP_001394584.1:p.Gly157Arg missense NM_001407656.1:c.469G>C NP_001394585.1:p.Gly157Arg missense NM_001407657.1:c.469G>C NP_001394586.1:p.Gly157Arg missense NM_001407658.1:c.469G>C NP_001394587.1:p.Gly157Arg missense NM_001407659.1:c.466G>C NP_001394588.1:p.Gly156Arg missense NM_001407660.1:c.466G>C NP_001394589.1:p.Gly156Arg missense NM_001407661.1:c.466G>C NP_001394590.1:p.Gly156Arg missense NM_001407662.1:c.466G>C NP_001394591.1:p.Gly156Arg missense NM_001407663.1:c.469G>C NP_001394592.1:p.Gly157Arg missense NM_001407664.1:c.547G>C NP_001394593.1:p.Ala183Pro missense NM_001407665.1:c.547G>C NP_001394594.1:p.Ala183Pro missense NM_001407666.1:c.547G>C NP_001394595.1:p.Ala183Pro missense NM_001407667.1:c.547G>C NP_001394596.1:p.Ala183Pro missense NM_001407668.1:c.547G>C NP_001394597.1:p.Ala183Pro missense NM_001407669.1:c.547G>C NP_001394598.1:p.Ala183Pro missense NM_001407670.1:c.544G>C NP_001394599.1:p.Ala182Pro missense NM_001407671.1:c.544G>C NP_001394600.1:p.Ala182Pro missense NM_001407672.1:c.544G>C NP_001394601.1:p.Ala182Pro missense NM_001407673.1:c.544G>C NP_001394602.1:p.Ala182Pro missense NM_001407674.1:c.547G>C NP_001394603.1:p.Ala183Pro missense NM_001407675.1:c.547G>C NP_001394604.1:p.Ala183Pro missense NM_001407676.1:c.547G>C NP_001394605.1:p.Ala183Pro missense NM_001407677.1:c.547G>C NP_001394606.1:p.Ala183Pro missense NM_001407678.1:c.547G>C NP_001394607.1:p.Ala183Pro missense NM_001407679.1:c.547G>C NP_001394608.1:p.Ala183Pro missense NM_001407680.1:c.547G>C NP_001394609.1:p.Ala183Pro missense NM_001407681.1:c.547G>C NP_001394610.1:p.Ala183Pro missense NM_001407682.1:c.547G>C NP_001394611.1:p.Ala183Pro missense NM_001407683.1:c.547G>C NP_001394612.1:p.Ala183Pro missense NM_001407684.1:c.547G>C NP_001394613.1:p.Gly183Arg missense NM_001407685.1:c.544G>C NP_001394614.1:p.Ala182Pro missense NM_001407686.1:c.544G>C NP_001394615.1:p.Ala182Pro missense NM_001407687.1:c.544G>C NP_001394616.1:p.Ala182Pro missense NM_001407688.1:c.544G>C NP_001394617.1:p.Ala182Pro missense NM_001407689.1:c.544G>C NP_001394618.1:p.Ala182Pro missense NM_001407690.1:c.544G>C NP_001394619.1:p.Ala182Pro missense NM_001407691.1:c.544G>C NP_001394620.1:p.Ala182Pro missense NM_001407692.1:c.406G>C NP_001394621.1:p.Gly136Arg missense NM_001407694.1:c.406G>C NP_001394623.1:p.Gly136Arg missense NM_001407695.1:c.406G>C NP_001394624.1:p.Gly136Arg missense NM_001407696.1:c.406G>C NP_001394625.1:p.Gly136Arg missense NM_001407697.1:c.406G>C NP_001394626.1:p.Gly136Arg missense NM_001407698.1:c.406G>C NP_001394627.1:p.Gly136Arg missense NM_001407724.1:c.406G>C NP_001394653.1:p.Gly136Arg missense NM_001407725.1:c.406G>C NP_001394654.1:p.Gly136Arg missense NM_001407726.1:c.406G>C NP_001394655.1:p.Gly136Arg missense NM_001407727.1:c.406G>C NP_001394656.1:p.Gly136Arg missense NM_001407728.1:c.406G>C NP_001394657.1:p.Gly136Arg missense NM_001407729.1:c.406G>C NP_001394658.1:p.Gly136Arg missense NM_001407730.1:c.406G>C NP_001394659.1:p.Gly136Arg missense NM_001407731.1:c.406G>C NP_001394660.1:p.Gly136Arg missense NM_001407732.1:c.406G>C NP_001394661.1:p.Gly136Arg missense NM_001407733.1:c.406G>C NP_001394662.1:p.Gly136Arg missense NM_001407734.1:c.406G>C NP_001394663.1:p.Gly136Arg missense NM_001407735.1:c.406G>C NP_001394664.1:p.Gly136Arg missense NM_001407736.1:c.406G>C NP_001394665.1:p.Gly136Arg missense NM_001407737.1:c.406G>C NP_001394666.1:p.Gly136Arg missense NM_001407738.1:c.406G>C NP_001394667.1:p.Gly136Arg missense NM_001407739.1:c.406G>C NP_001394668.1:p.Gly136Arg missense NM_001407740.1:c.403G>C NP_001394669.1:p.Gly135Arg missense NM_001407741.1:c.403G>C NP_001394670.1:p.Gly135Arg missense NM_001407742.1:c.403G>C NP_001394671.1:p.Gly135Arg missense NM_001407743.1:c.403G>C NP_001394672.1:p.Gly135Arg missense NM_001407744.1:c.403G>C NP_001394673.1:p.Gly135Arg missense NM_001407745.1:c.403G>C NP_001394674.1:p.Gly135Arg missense NM_001407746.1:c.403G>C NP_001394675.1:p.Gly135Arg missense NM_001407747.1:c.403G>C NP_001394676.1:p.Gly135Arg missense NM_001407748.1:c.403G>C NP_001394677.1:p.Gly135Arg missense NM_001407749.1:c.403G>C NP_001394678.1:p.Gly135Arg missense NM_001407750.1:c.406G>C NP_001394679.1:p.Gly136Arg missense NM_001407751.1:c.406G>C NP_001394680.1:p.Gly136Arg missense NM_001407752.1:c.406G>C NP_001394681.1:p.Gly136Arg missense NM_001407838.1:c.403G>C NP_001394767.1:p.Gly135Arg missense NM_001407839.1:c.403G>C NP_001394768.1:p.Gly135Arg missense NM_001407841.1:c.403G>C NP_001394770.1:p.Gly135Arg missense NM_001407842.1:c.403G>C NP_001394771.1:p.Gly135Arg missense NM_001407843.1:c.403G>C NP_001394772.1:p.Gly135Arg missense NM_001407844.1:c.403G>C NP_001394773.1:p.Gly135Arg missense NM_001407845.1:c.403G>C NP_001394774.1:p.Gly135Arg missense NM_001407846.1:c.403G>C NP_001394775.1:p.Gly135Arg missense NM_001407847.1:c.403G>C NP_001394776.1:p.Gly135Arg missense NM_001407848.1:c.403G>C NP_001394777.1:p.Gly135Arg missense NM_001407849.1:c.403G>C NP_001394778.1:p.Gly135Arg missense NM_001407850.1:c.406G>C NP_001394779.1:p.Gly136Arg missense NM_001407851.1:c.406G>C NP_001394780.1:p.Gly136Arg missense NM_001407852.1:c.406G>C NP_001394781.1:p.Gly136Arg missense NM_001407853.1:c.334G>C NP_001394782.1:p.Gly112Arg missense NM_001407854.1:c.547G>C NP_001394783.1:p.Gly183Arg missense NM_001407858.1:c.547G>C NP_001394787.1:p.Gly183Arg missense NM_001407859.1:c.547G>C NP_001394788.1:p.Gly183Arg missense NM_001407860.1:c.544G>C NP_001394789.1:p.Gly182Arg missense NM_001407861.1:c.544G>C NP_001394790.1:p.Gly182Arg missense NM_001407862.1:c.469G>C NP_001394791.1:p.Ala157Pro missense NM_001407863.1:c.547G>C NP_001394792.1:p.Ala183Pro missense NM_001407874.1:c.466G>C NP_001394803.1:p.Ala156Pro missense NM_001407875.1:c.466G>C NP_001394804.1:p.Ala156Pro missense NM_001407879.1:c.337G>C NP_001394808.1:p.Gly113Arg missense NM_001407881.1:c.337G>C NP_001394810.1:p.Gly113Arg missense NM_001407882.1:c.337G>C NP_001394811.1:p.Gly113Arg missense NM_001407884.1:c.337G>C NP_001394813.1:p.Gly113Arg missense NM_001407885.1:c.337G>C NP_001394814.1:p.Gly113Arg missense NM_001407886.1:c.337G>C NP_001394815.1:p.Gly113Arg missense NM_001407887.1:c.337G>C NP_001394816.1:p.Gly113Arg missense NM_001407889.1:c.337G>C NP_001394818.1:p.Gly113Arg missense NM_001407894.1:c.334G>C NP_001394823.1:p.Gly112Arg missense NM_001407895.1:c.334G>C NP_001394824.1:p.Gly112Arg missense NM_001407896.1:c.334G>C NP_001394825.1:p.Gly112Arg missense NM_001407897.1:c.334G>C NP_001394826.1:p.Gly112Arg missense NM_001407898.1:c.334G>C NP_001394827.1:p.Gly112Arg missense NM_001407899.1:c.334G>C NP_001394828.1:p.Gly112Arg missense NM_001407900.1:c.337G>C NP_001394829.1:p.Gly113Arg missense NM_001407902.1:c.337G>C NP_001394831.1:p.Gly113Arg missense NM_001407904.1:c.337G>C NP_001394833.1:p.Gly113Arg missense NM_001407906.1:c.337G>C NP_001394835.1:p.Gly113Arg missense NM_001407907.1:c.337G>C NP_001394836.1:p.Gly113Arg missense NM_001407908.1:c.337G>C NP_001394837.1:p.Gly113Arg missense NM_001407909.1:c.337G>C NP_001394838.1:p.Gly113Arg missense NM_001407910.1:c.337G>C NP_001394839.1:p.Gly113Arg missense NM_001407915.1:c.334G>C NP_001394844.1:p.Gly112Arg missense NM_001407916.1:c.334G>C NP_001394845.1:p.Gly112Arg missense NM_001407917.1:c.334G>C NP_001394846.1:p.Gly112Arg missense NM_001407918.1:c.334G>C NP_001394847.1:p.Gly112Arg missense NM_001407919.1:c.547G>C NP_001394848.1:p.Ala183Pro missense NM_001407920.1:c.406G>C NP_001394849.1:p.Ala136Pro missense NM_001407921.1:c.406G>C NP_001394850.1:p.Ala136Pro missense NM_001407922.1:c.406G>C NP_001394851.1:p.Ala136Pro missense NM_001407923.1:c.406G>C NP_001394852.1:p.Ala136Pro missense NM_001407924.1:c.406G>C NP_001394853.1:p.Ala136Pro missense NM_001407925.1:c.406G>C NP_001394854.1:p.Ala136Pro missense NM_001407926.1:c.406G>C NP_001394855.1:p.Ala136Pro missense NM_001407927.1:c.406G>C NP_001394856.1:p.Ala136Pro missense NM_001407928.1:c.406G>C NP_001394857.1:p.Ala136Pro missense NM_001407929.1:c.406G>C NP_001394858.1:p.Ala136Pro missense NM_001407930.1:c.403G>C NP_001394859.1:p.Ala135Pro missense NM_001407931.1:c.403G>C NP_001394860.1:p.Ala135Pro missense NM_001407932.1:c.403G>C NP_001394861.1:p.Ala135Pro missense NM_001407933.1:c.406G>C NP_001394862.1:p.Ala136Pro missense NM_001407934.1:c.403G>C NP_001394863.1:p.Ala135Pro missense NM_001407935.1:c.406G>C NP_001394864.1:p.Ala136Pro missense NM_001407936.1:c.403G>C NP_001394865.1:p.Ala135Pro missense NM_001407937.1:c.547G>C NP_001394866.1:p.Ala183Pro missense NM_001407938.1:c.547G>C NP_001394867.1:p.Ala183Pro missense NM_001407939.1:c.547G>C NP_001394868.1:p.Ala183Pro missense NM_001407940.1:c.544G>C NP_001394869.1:p.Ala182Pro missense NM_001407941.1:c.544G>C NP_001394870.1:p.Ala182Pro missense NM_001407942.1:c.406G>C NP_001394871.1:p.Gly136Arg missense NM_001407943.1:c.403G>C NP_001394872.1:p.Gly135Arg missense NM_001407944.1:c.406G>C NP_001394873.1:p.Gly136Arg missense NM_001407945.1:c.406G>C NP_001394874.1:p.Gly136Arg missense NM_001407946.1:c.337G>C NP_001394875.1:p.Ala113Pro missense NM_001407947.1:c.337G>C NP_001394876.1:p.Ala113Pro missense NM_001407948.1:c.337G>C NP_001394877.1:p.Ala113Pro missense NM_001407949.1:c.337G>C NP_001394878.1:p.Ala113Pro missense NM_001407950.1:c.337G>C NP_001394879.1:p.Ala113Pro missense NM_001407951.1:c.337G>C NP_001394880.1:p.Ala113Pro missense NM_001407952.1:c.337G>C NP_001394881.1:p.Ala113Pro missense NM_001407953.1:c.337G>C NP_001394882.1:p.Ala113Pro missense NM_001407954.1:c.334G>C NP_001394883.1:p.Ala112Pro missense NM_001407955.1:c.334G>C NP_001394884.1:p.Ala112Pro missense NM_001407956.1:c.334G>C NP_001394885.1:p.Ala112Pro missense NM_001407957.1:c.337G>C NP_001394886.1:p.Ala113Pro missense NM_001407958.1:c.334G>C NP_001394887.1:p.Ala112Pro missense NM_001407959.1:c.166G>C NP_001394888.1:p.Gly56Arg missense NM_001407960.1:c.166G>C NP_001394889.1:p.Gly56Arg missense NM_001407962.1:c.163G>C NP_001394891.1:p.Gly55Arg missense NM_001407963.1:c.166G>C NP_001394892.1:p.Gly56Arg missense NM_001407964.1:c.403G>C NP_001394893.1:p.Gly135Arg missense NM_001407965.1:c.166G>C NP_001394894.1:p.Ala56Pro missense NM_001407968.1:c.547G>C NP_001394897.1:p.Gly183Arg missense NM_001407969.1:c.547G>C NP_001394898.1:p.Gly183Arg missense NM_001407970.1:c.547G>C NP_001394899.1:p.Gly183Arg missense NM_001407971.1:c.547G>C NP_001394900.1:p.Gly183Arg missense NM_001407972.1:c.544G>C NP_001394901.1:p.Gly182Arg missense NM_001407973.1:c.547G>C NP_001394902.1:p.Gly183Arg missense NM_001407974.1:c.547G>C NP_001394903.1:p.Gly183Arg missense NM_001407975.1:c.547G>C NP_001394904.1:p.Gly183Arg missense NM_001407976.1:c.547G>C NP_001394905.1:p.Gly183Arg missense NM_001407977.1:c.547G>C NP_001394906.1:p.Gly183Arg missense NM_001407978.1:c.547G>C NP_001394907.1:p.Gly183Arg missense NM_001407979.1:c.547G>C NP_001394908.1:p.Gly183Arg missense NM_001407980.1:c.547G>C NP_001394909.1:p.Gly183Arg missense NM_001407981.1:c.547G>C NP_001394910.1:p.Gly183Arg missense NM_001407982.1:c.547G>C NP_001394911.1:p.Gly183Arg missense NM_001407983.1:c.547G>C NP_001394912.1:p.Gly183Arg missense NM_001407984.1:c.544G>C NP_001394913.1:p.Gly182Arg missense NM_001407985.1:c.544G>C NP_001394914.1:p.Gly182Arg missense NM_001407986.1:c.544G>C NP_001394915.1:p.Gly182Arg missense NM_001407990.1:c.547G>C NP_001394919.1:p.Gly183Arg missense NM_001407991.1:c.544G>C NP_001394920.1:p.Gly182Arg missense NM_001407992.1:c.544G>C NP_001394921.1:p.Gly182Arg missense NM_001407993.1:c.547G>C NP_001394922.1:p.Gly183Arg missense NM_001408392.1:c.544G>C NP_001395321.1:p.Gly182Arg missense NM_001408396.1:c.544G>C NP_001395325.1:p.Gly182Arg missense NM_001408397.1:c.544G>C NP_001395326.1:p.Gly182Arg missense NM_001408398.1:c.544G>C NP_001395327.1:p.Gly182Arg missense NM_001408399.1:c.544G>C NP_001395328.1:p.Gly182Arg missense NM_001408400.1:c.544G>C NP_001395329.1:p.Gly182Arg missense NM_001408401.1:c.544G>C NP_001395330.1:p.Gly182Arg missense NM_001408402.1:c.544G>C NP_001395331.1:p.Gly182Arg missense NM_001408403.1:c.547G>C NP_001395332.1:p.Gly183Arg missense NM_001408404.1:c.547G>C NP_001395333.1:p.Gly183Arg missense NM_001408406.1:c.547G>C NP_001395335.1:p.Gly183Arg missense NM_001408407.1:c.544G>C NP_001395336.1:p.Gly182Arg missense NM_001408408.1:c.538G>C NP_001395337.1:p.Gly180Arg missense NM_001408409.1:c.469G>C NP_001395338.1:p.Gly157Arg missense NM_001408410.1:c.406G>C NP_001395339.1:p.Gly136Arg missense NM_001408411.1:c.469G>C NP_001395340.1:p.Gly157Arg missense NM_001408412.1:c.469G>C NP_001395341.1:p.Gly157Arg missense NM_001408413.1:c.466G>C NP_001395342.1:p.Gly156Arg missense NM_001408414.1:c.469G>C NP_001395343.1:p.Gly157Arg missense NM_001408415.1:c.469G>C NP_001395344.1:p.Gly157Arg missense NM_001408416.1:c.466G>C NP_001395345.1:p.Gly156Arg missense NM_001408418.1:c.547G>C NP_001395347.1:p.Gly183Arg missense NM_001408419.1:c.547G>C NP_001395348.1:p.Gly183Arg missense NM_001408420.1:c.547G>C NP_001395349.1:p.Gly183Arg missense NM_001408421.1:c.544G>C NP_001395350.1:p.Gly182Arg missense NM_001408422.1:c.547G>C NP_001395351.1:p.Gly183Arg missense NM_001408423.1:c.547G>C NP_001395352.1:p.Gly183Arg missense NM_001408424.1:c.544G>C NP_001395353.1:p.Gly182Arg missense NM_001408425.1:c.547G>C NP_001395354.1:p.Ala183Pro missense NM_001408426.1:c.547G>C NP_001395355.1:p.Ala183Pro missense NM_001408427.1:c.547G>C NP_001395356.1:p.Ala183Pro missense NM_001408428.1:c.547G>C NP_001395357.1:p.Ala183Pro missense NM_001408429.1:c.547G>C NP_001395358.1:p.Ala183Pro missense NM_001408430.1:c.547G>C NP_001395359.1:p.Ala183Pro missense NM_001408431.1:c.544G>C NP_001395360.1:p.Gly182Arg missense NM_001408432.1:c.544G>C NP_001395361.1:p.Ala182Pro missense NM_001408433.1:c.544G>C NP_001395362.1:p.Ala182Pro missense NM_001408434.1:c.544G>C NP_001395363.1:p.Ala182Pro missense NM_001408435.1:c.544G>C NP_001395364.1:p.Ala182Pro missense NM_001408436.1:c.547G>C NP_001395365.1:p.Ala183Pro missense NM_001408437.1:c.547G>C NP_001395366.1:p.Ala183Pro missense NM_001408438.1:c.547G>C NP_001395367.1:p.Ala183Pro missense NM_001408439.1:c.547G>C NP_001395368.1:p.Ala183Pro missense NM_001408440.1:c.547G>C NP_001395369.1:p.Ala183Pro missense NM_001408441.1:c.547G>C NP_001395370.1:p.Ala183Pro missense NM_001408442.1:c.547G>C NP_001395371.1:p.Ala183Pro missense NM_001408443.1:c.547G>C NP_001395372.1:p.Ala183Pro missense NM_001408444.1:c.547G>C NP_001395373.1:p.Ala183Pro missense NM_001408445.1:c.544G>C NP_001395374.1:p.Ala182Pro missense NM_001408446.1:c.544G>C NP_001395375.1:p.Ala182Pro missense NM_001408447.1:c.544G>C NP_001395376.1:p.Ala182Pro missense NM_001408448.1:c.544G>C NP_001395377.1:p.Ala182Pro missense NM_001408450.1:c.544G>C NP_001395379.1:p.Ala182Pro missense NM_001408451.1:c.412G>C NP_001395380.1:p.Gly138Arg missense NM_001408452.1:c.406G>C NP_001395381.1:p.Gly136Arg missense NM_001408453.1:c.406G>C NP_001395382.1:p.Gly136Arg missense NM_001408454.1:c.406G>C NP_001395383.1:p.Gly136Arg missense NM_001408455.1:c.406G>C NP_001395384.1:p.Gly136Arg missense NM_001408456.1:c.406G>C NP_001395385.1:p.Gly136Arg missense NM_001408457.1:c.406G>C NP_001395386.1:p.Gly136Arg missense NM_001408458.1:c.406G>C NP_001395387.1:p.Gly136Arg missense NM_001408459.1:c.406G>C NP_001395388.1:p.Gly136Arg missense NM_001408460.1:c.406G>C NP_001395389.1:p.Gly136Arg missense NM_001408461.1:c.406G>C NP_001395390.1:p.Gly136Arg missense NM_001408462.1:c.403G>C NP_001395391.1:p.Gly135Arg missense NM_001408463.1:c.403G>C NP_001395392.1:p.Gly135Arg missense NM_001408464.1:c.403G>C NP_001395393.1:p.Gly135Arg missense NM_001408465.1:c.403G>C NP_001395394.1:p.Gly135Arg missense NM_001408466.1:c.406G>C NP_001395395.1:p.Gly136Arg missense NM_001408467.1:c.406G>C NP_001395396.1:p.Gly136Arg missense NM_001408468.1:c.403G>C NP_001395397.1:p.Gly135Arg missense NM_001408469.1:c.406G>C NP_001395398.1:p.Gly136Arg missense NM_001408470.1:c.403G>C NP_001395399.1:p.Gly135Arg missense NM_001408472.1:c.547G>C NP_001395401.1:p.Gly183Arg missense NM_001408473.1:c.544G>C NP_001395402.1:p.Gly182Arg missense NM_001408474.1:c.469G>C NP_001395403.1:p.Ala157Pro missense NM_001408475.1:c.466G>C NP_001395404.1:p.Ala156Pro missense NM_001408476.1:c.469G>C NP_001395405.1:p.Ala157Pro missense NM_001408478.1:c.337G>C NP_001395407.1:p.Gly113Arg missense NM_001408479.1:c.337G>C NP_001395408.1:p.Gly113Arg missense NM_001408480.1:c.337G>C NP_001395409.1:p.Gly113Arg missense NM_001408481.1:c.337G>C NP_001395410.1:p.Gly113Arg missense NM_001408482.1:c.337G>C NP_001395411.1:p.Gly113Arg missense NM_001408483.1:c.337G>C NP_001395412.1:p.Gly113Arg missense NM_001408484.1:c.337G>C NP_001395413.1:p.Gly113Arg missense NM_001408485.1:c.337G>C NP_001395414.1:p.Gly113Arg missense NM_001408489.1:c.337G>C NP_001395418.1:p.Gly113Arg missense NM_001408490.1:c.334G>C NP_001395419.1:p.Gly112Arg missense NM_001408491.1:c.334G>C NP_001395420.1:p.Gly112Arg missense NM_001408492.1:c.337G>C NP_001395421.1:p.Gly113Arg missense NM_001408493.1:c.334G>C NP_001395422.1:p.Gly112Arg missense NM_001408494.1:c.547G>C NP_001395423.1:p.Gly183Arg missense NM_001408495.1:c.544G>C NP_001395424.1:p.Gly182Arg missense NM_001408496.1:c.406G>C NP_001395425.1:p.Ala136Pro missense NM_001408497.1:c.406G>C NP_001395426.1:p.Ala136Pro missense NM_001408498.1:c.406G>C NP_001395427.1:p.Ala136Pro missense NM_001408499.1:c.406G>C NP_001395428.1:p.Ala136Pro missense NM_001408500.1:c.406G>C NP_001395429.1:p.Ala136Pro missense NM_001408501.1:c.406G>C NP_001395430.1:p.Ala136Pro missense NM_001408502.1:c.337G>C NP_001395431.1:p.Ala113Pro missense NM_001408503.1:c.403G>C NP_001395432.1:p.Ala135Pro missense NM_001408504.1:c.403G>C NP_001395433.1:p.Ala135Pro missense NM_001408505.1:c.403G>C NP_001395434.1:p.Ala135Pro missense NM_001408506.1:c.337G>C NP_001395435.1:p.Gly113Arg missense NM_001408507.1:c.337G>C NP_001395436.1:p.Gly113Arg missense NM_001408508.1:c.334G>C NP_001395437.1:p.Ala112Pro missense NM_001408509.1:c.334G>C NP_001395438.1:p.Ala112Pro missense NM_001408510.1:c.166G>C NP_001395439.1:p.Gly56Arg missense NM_001408511.1:c.403G>C NP_001395440.1:p.Gly135Arg missense NM_001408512.1:c.166G>C NP_001395441.1:p.Ala56Pro missense NM_001408513.1:c.337G>C NP_001395442.1:p.Gly113Arg missense NM_001408514.1:c.337G>C NP_001395443.1:p.Gly113Arg missense NM_007297.4:c.406G>C NP_009228.2:p.Gly136Arg missense NM_007298.4:c.547G>C NP_009229.2:p.Gly183Arg missense NM_007299.4:c.547G>C NP_009230.2:p.Gly183Arg missense NM_007300.4:c.547G>C NP_009231.2:p.Gly183Arg missense NM_007304.2:c.547G>C NP_009235.2:p.Gly183Arg missense NR_027676.2:n.724G>C non-coding transcript variant NC_000017.11:g.43099775C>G NC_000017.10:g.41251792C>G NG_005905.2:g.118209G>C LRG_292:g.118209G>C LRG_292t1:c.547G>C LRG_292p1:p.Gly183Arg - Protein change
- G183R, G136R, A136P, A156P, A183P, A56P, G157R, G180R, A113P, A157P, G135R, G138R, G182R, A135P, A182P, G113R, G156R, G56R, A112P, G112R, G55R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43099774:C:G
-
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.
-
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 | ||
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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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Apr 20, 2017 | RCV000496232.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Uncertain significance
(Apr 20, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Department of Pathology and Molecular Medicine, Queen's University
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000588030.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs1135401931 ...
HelpRecord last updated Mar 26, 2023
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.