Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
NM_007294.4(BRCA1):c.881A>G (p.Lys294Arg)
Germline
Classification
Help
criteria provided, conflicting classifications. Learn more about how ClinVar calculates review status.
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
2 out of 2 submissions contributed to this classification
Help
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.
2
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.881A>G (p.Lys294Arg)
Variation ID: 531293 Accession: VCV000531293.12
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43094650 (GRCh38) [ NCBI UCSC ] 17: 41246667 (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 May 28, 2018 Mar 7, 2026 Mar 23, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.881A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys294Arg missense NM_001407571.1:c.668A>G NP_001394500.1:p.Lys223Arg missense NM_001407581.1:c.881A>G NP_001394510.1:p.Lys294Arg missense NM_001407582.1:c.881A>G NP_001394511.1:p.Lys294Arg missense NM_001407583.1:c.881A>G NP_001394512.1:p.Lys294Arg missense NM_001407585.1:c.881A>G NP_001394514.1:p.Lys294Arg missense NM_001407587.1:c.878A>G NP_001394516.1:p.Lys293Arg missense NM_001407590.1:c.878A>G NP_001394519.1:p.Lys293Arg missense NM_001407591.1:c.878A>G NP_001394520.1:p.Lys293Arg missense NM_001407593.1:c.881A>G NP_001394522.1:p.Lys294Arg missense NM_001407594.1:c.881A>G NP_001394523.1:p.Lys294Arg missense NM_001407596.1:c.881A>G NP_001394525.1:p.Lys294Arg missense NM_001407597.1:c.881A>G NP_001394526.1:p.Lys294Arg missense NM_001407598.1:c.881A>G NP_001394527.1:p.Lys294Arg missense NM_001407602.1:c.881A>G NP_001394531.1:p.Lys294Arg missense NM_001407603.1:c.881A>G NP_001394532.1:p.Lys294Arg missense NM_001407605.1:c.881A>G NP_001394534.1:p.Lys294Arg missense NM_001407610.1:c.878A>G NP_001394539.1:p.Lys293Arg missense NM_001407611.1:c.878A>G NP_001394540.1:p.Lys293Arg missense NM_001407612.1:c.878A>G NP_001394541.1:p.Lys293Arg missense NM_001407613.1:c.878A>G NP_001394542.1:p.Lys293Arg missense NM_001407614.1:c.878A>G NP_001394543.1:p.Lys293Arg missense NM_001407615.1:c.878A>G NP_001394544.1:p.Lys293Arg missense NM_001407616.1:c.881A>G NP_001394545.1:p.Lys294Arg missense NM_001407617.1:c.881A>G NP_001394546.1:p.Lys294Arg missense NM_001407618.1:c.881A>G NP_001394547.1:p.Lys294Arg missense NM_001407619.1:c.881A>G NP_001394548.1:p.Lys294Arg missense NM_001407620.1:c.881A>G NP_001394549.1:p.Lys294Arg missense NM_001407621.1:c.881A>G NP_001394550.1:p.Lys294Arg missense NM_001407622.1:c.881A>G NP_001394551.1:p.Lys294Arg missense NM_001407623.1:c.881A>G NP_001394552.1:p.Lys294Arg missense NM_001407624.1:c.881A>G NP_001394553.1:p.Lys294Arg missense NM_001407625.1:c.881A>G NP_001394554.1:p.Lys294Arg missense NM_001407626.1:c.881A>G NP_001394555.1:p.Lys294Arg missense NM_001407627.1:c.878A>G NP_001394556.1:p.Lys293Arg missense NM_001407628.1:c.878A>G NP_001394557.1:p.Lys293Arg missense NM_001407629.1:c.878A>G NP_001394558.1:p.Lys293Arg missense NM_001407630.1:c.878A>G NP_001394559.1:p.Lys293Arg missense NM_001407631.1:c.878A>G NP_001394560.1:p.Lys293Arg missense NM_001407632.1:c.878A>G NP_001394561.1:p.Lys293Arg missense NM_001407633.1:c.878A>G NP_001394562.1:p.Lys293Arg missense NM_001407634.1:c.878A>G NP_001394563.1:p.Lys293Arg missense NM_001407635.1:c.878A>G NP_001394564.1:p.Lys293Arg missense NM_001407636.1:c.878A>G NP_001394565.1:p.Lys293Arg missense NM_001407637.1:c.878A>G NP_001394566.1:p.Lys293Arg missense NM_001407638.1:c.878A>G NP_001394567.1:p.Lys293Arg missense NM_001407639.1:c.881A>G NP_001394568.1:p.Lys294Arg missense NM_001407640.1:c.881A>G NP_001394569.1:p.Lys294Arg missense NM_001407641.1:c.881A>G NP_001394570.1:p.Lys294Arg missense NM_001407642.1:c.881A>G NP_001394571.1:p.Lys294Arg missense NM_001407644.1:c.878A>G NP_001394573.1:p.Lys293Arg missense NM_001407645.1:c.878A>G NP_001394574.1:p.Lys293Arg missense NM_001407646.1:c.872A>G NP_001394575.1:p.Lys291Arg missense NM_001407647.1:c.872A>G NP_001394576.1:p.Lys291Arg missense NM_001407648.1:c.758A>G NP_001394577.1:p.Lys253Arg missense NM_001407649.1:c.755A>G NP_001394578.1:p.Lys252Arg missense NM_001407652.1:c.881A>G NP_001394581.1:p.Lys294Arg missense NM_001407653.1:c.803A>G NP_001394582.1:p.Lys268Arg missense NM_001407654.1:c.803A>G NP_001394583.1:p.Lys268Arg missense NM_001407655.1:c.803A>G NP_001394584.1:p.Lys268Arg missense NM_001407656.1:c.803A>G NP_001394585.1:p.Lys268Arg missense NM_001407657.1:c.803A>G NP_001394586.1:p.Lys268Arg missense NM_001407658.1:c.803A>G NP_001394587.1:p.Lys268Arg missense NM_001407659.1:c.800A>G NP_001394588.1:p.Lys267Arg missense NM_001407660.1:c.800A>G NP_001394589.1:p.Lys267Arg missense NM_001407661.1:c.800A>G NP_001394590.1:p.Lys267Arg missense NM_001407662.1:c.800A>G NP_001394591.1:p.Lys267Arg missense NM_001407663.1:c.803A>G NP_001394592.1:p.Lys268Arg missense NM_001407664.1:c.758A>G NP_001394593.1:p.Lys253Arg missense NM_001407665.1:c.758A>G NP_001394594.1:p.Lys253Arg missense NM_001407666.1:c.758A>G NP_001394595.1:p.Lys253Arg missense NM_001407667.1:c.758A>G NP_001394596.1:p.Lys253Arg missense NM_001407668.1:c.758A>G NP_001394597.1:p.Lys253Arg missense NM_001407669.1:c.758A>G NP_001394598.1:p.Lys253Arg missense NM_001407670.1:c.755A>G NP_001394599.1:p.Lys252Arg missense NM_001407671.1:c.755A>G NP_001394600.1:p.Lys252Arg missense NM_001407672.1:c.755A>G NP_001394601.1:p.Lys252Arg missense NM_001407673.1:c.755A>G NP_001394602.1:p.Lys252Arg missense NM_001407674.1:c.758A>G NP_001394603.1:p.Lys253Arg missense NM_001407675.1:c.758A>G NP_001394604.1:p.Lys253Arg missense NM_001407676.1:c.758A>G NP_001394605.1:p.Lys253Arg missense NM_001407677.1:c.758A>G NP_001394606.1:p.Lys253Arg missense NM_001407678.1:c.758A>G NP_001394607.1:p.Lys253Arg missense NM_001407679.1:c.758A>G NP_001394608.1:p.Lys253Arg missense NM_001407680.1:c.758A>G NP_001394609.1:p.Lys253Arg missense NM_001407681.1:c.758A>G NP_001394610.1:p.Lys253Arg missense NM_001407682.1:c.758A>G NP_001394611.1:p.Lys253Arg missense NM_001407683.1:c.758A>G NP_001394612.1:p.Lys253Arg missense NM_001407684.1:c.881A>G NP_001394613.1:p.Lys294Arg missense NM_001407685.1:c.755A>G NP_001394614.1:p.Lys252Arg missense NM_001407686.1:c.755A>G NP_001394615.1:p.Lys252Arg missense NM_001407687.1:c.755A>G NP_001394616.1:p.Lys252Arg missense NM_001407688.1:c.755A>G NP_001394617.1:p.Lys252Arg missense NM_001407689.1:c.755A>G NP_001394618.1:p.Lys252Arg missense NM_001407690.1:c.755A>G NP_001394619.1:p.Lys252Arg missense NM_001407691.1:c.755A>G NP_001394620.1:p.Lys252Arg missense NM_001407692.1:c.740A>G NP_001394621.1:p.Lys247Arg missense NM_001407694.1:c.740A>G NP_001394623.1:p.Lys247Arg missense NM_001407695.1:c.740A>G NP_001394624.1:p.Lys247Arg missense NM_001407696.1:c.740A>G NP_001394625.1:p.Lys247Arg missense NM_001407697.1:c.740A>G NP_001394626.1:p.Lys247Arg missense NM_001407698.1:c.740A>G NP_001394627.1:p.Lys247Arg missense NM_001407724.1:c.740A>G NP_001394653.1:p.Lys247Arg missense NM_001407725.1:c.740A>G NP_001394654.1:p.Lys247Arg missense NM_001407726.1:c.740A>G NP_001394655.1:p.Lys247Arg missense NM_001407727.1:c.740A>G NP_001394656.1:p.Lys247Arg missense NM_001407728.1:c.740A>G NP_001394657.1:p.Lys247Arg missense NM_001407729.1:c.740A>G NP_001394658.1:p.Lys247Arg missense NM_001407730.1:c.740A>G NP_001394659.1:p.Lys247Arg missense NM_001407731.1:c.740A>G NP_001394660.1:p.Lys247Arg missense NM_001407732.1:c.740A>G NP_001394661.1:p.Lys247Arg missense NM_001407733.1:c.740A>G NP_001394662.1:p.Lys247Arg missense NM_001407734.1:c.740A>G NP_001394663.1:p.Lys247Arg missense NM_001407735.1:c.740A>G NP_001394664.1:p.Lys247Arg missense NM_001407736.1:c.740A>G NP_001394665.1:p.Lys247Arg missense NM_001407737.1:c.740A>G NP_001394666.1:p.Lys247Arg missense NM_001407738.1:c.740A>G NP_001394667.1:p.Lys247Arg missense NM_001407739.1:c.740A>G NP_001394668.1:p.Lys247Arg missense NM_001407740.1:c.737A>G NP_001394669.1:p.Lys246Arg missense NM_001407741.1:c.737A>G NP_001394670.1:p.Lys246Arg missense NM_001407742.1:c.737A>G NP_001394671.1:p.Lys246Arg missense NM_001407743.1:c.737A>G NP_001394672.1:p.Lys246Arg missense NM_001407744.1:c.737A>G NP_001394673.1:p.Lys246Arg missense NM_001407745.1:c.737A>G NP_001394674.1:p.Lys246Arg missense NM_001407746.1:c.737A>G NP_001394675.1:p.Lys246Arg missense NM_001407747.1:c.737A>G NP_001394676.1:p.Lys246Arg missense NM_001407748.1:c.737A>G NP_001394677.1:p.Lys246Arg missense NM_001407749.1:c.737A>G NP_001394678.1:p.Lys246Arg missense NM_001407750.1:c.740A>G NP_001394679.1:p.Lys247Arg missense NM_001407751.1:c.740A>G NP_001394680.1:p.Lys247Arg missense NM_001407752.1:c.740A>G NP_001394681.1:p.Lys247Arg missense NM_001407838.1:c.737A>G NP_001394767.1:p.Lys246Arg missense NM_001407839.1:c.737A>G NP_001394768.1:p.Lys246Arg missense NM_001407841.1:c.737A>G NP_001394770.1:p.Lys246Arg missense NM_001407842.1:c.737A>G NP_001394771.1:p.Lys246Arg missense NM_001407843.1:c.737A>G NP_001394772.1:p.Lys246Arg missense NM_001407844.1:c.737A>G NP_001394773.1:p.Lys246Arg missense NM_001407845.1:c.737A>G NP_001394774.1:p.Lys246Arg missense NM_001407846.1:c.737A>G NP_001394775.1:p.Lys246Arg missense NM_001407847.1:c.737A>G NP_001394776.1:p.Lys246Arg missense NM_001407848.1:c.737A>G NP_001394777.1:p.Lys246Arg missense NM_001407849.1:c.737A>G NP_001394778.1:p.Lys246Arg missense NM_001407850.1:c.740A>G NP_001394779.1:p.Lys247Arg missense NM_001407851.1:c.740A>G NP_001394780.1:p.Lys247Arg missense NM_001407852.1:c.740A>G NP_001394781.1:p.Lys247Arg missense NM_001407853.1:c.668A>G NP_001394782.1:p.Lys223Arg missense NM_001407854.1:c.881A>G NP_001394783.1:p.Lys294Arg missense NM_001407858.1:c.881A>G NP_001394787.1:p.Lys294Arg missense NM_001407859.1:c.881A>G NP_001394788.1:p.Lys294Arg missense NM_001407860.1:c.878A>G NP_001394789.1:p.Lys293Arg missense NM_001407861.1:c.878A>G NP_001394790.1:p.Lys293Arg missense NM_001407862.1:c.680A>G NP_001394791.1:p.Lys227Arg missense NM_001407863.1:c.758A>G NP_001394792.1:p.Lys253Arg missense NM_001407874.1:c.677A>G NP_001394803.1:p.Lys226Arg missense NM_001407875.1:c.677A>G NP_001394804.1:p.Lys226Arg missense NM_001407879.1:c.671A>G NP_001394808.1:p.Lys224Arg missense NM_001407881.1:c.671A>G NP_001394810.1:p.Lys224Arg missense NM_001407882.1:c.671A>G NP_001394811.1:p.Lys224Arg missense NM_001407884.1:c.671A>G NP_001394813.1:p.Lys224Arg missense NM_001407885.1:c.671A>G NP_001394814.1:p.Lys224Arg missense NM_001407886.1:c.671A>G NP_001394815.1:p.Lys224Arg missense NM_001407887.1:c.671A>G NP_001394816.1:p.Lys224Arg missense NM_001407889.1:c.671A>G NP_001394818.1:p.Lys224Arg missense NM_001407894.1:c.668A>G NP_001394823.1:p.Lys223Arg missense NM_001407895.1:c.668A>G NP_001394824.1:p.Lys223Arg missense NM_001407896.1:c.668A>G NP_001394825.1:p.Lys223Arg missense NM_001407897.1:c.668A>G NP_001394826.1:p.Lys223Arg missense NM_001407898.1:c.668A>G NP_001394827.1:p.Lys223Arg missense NM_001407899.1:c.668A>G NP_001394828.1:p.Lys223Arg missense NM_001407900.1:c.671A>G NP_001394829.1:p.Lys224Arg missense NM_001407902.1:c.671A>G NP_001394831.1:p.Lys224Arg missense NM_001407904.1:c.671A>G NP_001394833.1:p.Lys224Arg missense NM_001407906.1:c.671A>G NP_001394835.1:p.Lys224Arg missense NM_001407907.1:c.671A>G NP_001394836.1:p.Lys224Arg missense NM_001407908.1:c.671A>G NP_001394837.1:p.Lys224Arg missense NM_001407909.1:c.671A>G NP_001394838.1:p.Lys224Arg missense NM_001407910.1:c.671A>G NP_001394839.1:p.Lys224Arg missense NM_001407915.1:c.668A>G NP_001394844.1:p.Lys223Arg missense NM_001407916.1:c.668A>G NP_001394845.1:p.Lys223Arg missense NM_001407917.1:c.668A>G NP_001394846.1:p.Lys223Arg missense NM_001407918.1:c.668A>G NP_001394847.1:p.Lys223Arg missense NM_001407919.1:c.758A>G NP_001394848.1:p.Lys253Arg missense NM_001407920.1:c.617A>G NP_001394849.1:p.Lys206Arg missense NM_001407921.1:c.617A>G NP_001394850.1:p.Lys206Arg missense NM_001407922.1:c.617A>G NP_001394851.1:p.Lys206Arg missense NM_001407923.1:c.617A>G NP_001394852.1:p.Lys206Arg missense NM_001407924.1:c.617A>G NP_001394853.1:p.Lys206Arg missense NM_001407925.1:c.617A>G NP_001394854.1:p.Lys206Arg missense NM_001407926.1:c.617A>G NP_001394855.1:p.Lys206Arg missense NM_001407927.1:c.617A>G NP_001394856.1:p.Lys206Arg missense NM_001407928.1:c.617A>G NP_001394857.1:p.Lys206Arg missense NM_001407929.1:c.617A>G NP_001394858.1:p.Lys206Arg missense NM_001407930.1:c.614A>G NP_001394859.1:p.Lys205Arg missense NM_001407931.1:c.614A>G NP_001394860.1:p.Lys205Arg missense NM_001407932.1:c.614A>G NP_001394861.1:p.Lys205Arg missense NM_001407933.1:c.617A>G NP_001394862.1:p.Lys206Arg missense NM_001407934.1:c.614A>G NP_001394863.1:p.Lys205Arg missense NM_001407935.1:c.617A>G NP_001394864.1:p.Lys206Arg missense NM_001407936.1:c.614A>G NP_001394865.1:p.Lys205Arg missense NM_001407937.1:c.758A>G NP_001394866.1:p.Lys253Arg missense NM_001407938.1:c.758A>G NP_001394867.1:p.Lys253Arg missense NM_001407939.1:c.758A>G NP_001394868.1:p.Lys253Arg missense NM_001407940.1:c.755A>G NP_001394869.1:p.Lys252Arg missense NM_001407941.1:c.755A>G NP_001394870.1:p.Lys252Arg missense NM_001407942.1:c.740A>G NP_001394871.1:p.Lys247Arg missense NM_001407943.1:c.737A>G NP_001394872.1:p.Lys246Arg missense NM_001407944.1:c.740A>G NP_001394873.1:p.Lys247Arg missense NM_001407945.1:c.740A>G NP_001394874.1:p.Lys247Arg missense NM_001407946.1:c.548A>G NP_001394875.1:p.Lys183Arg missense NM_001407947.1:c.548A>G NP_001394876.1:p.Lys183Arg missense NM_001407948.1:c.548A>G NP_001394877.1:p.Lys183Arg missense NM_001407949.1:c.548A>G NP_001394878.1:p.Lys183Arg missense NM_001407950.1:c.548A>G NP_001394879.1:p.Lys183Arg missense NM_001407951.1:c.548A>G NP_001394880.1:p.Lys183Arg missense NM_001407952.1:c.548A>G NP_001394881.1:p.Lys183Arg missense NM_001407953.1:c.548A>G NP_001394882.1:p.Lys183Arg missense NM_001407954.1:c.545A>G NP_001394883.1:p.Lys182Arg missense NM_001407955.1:c.545A>G NP_001394884.1:p.Lys182Arg missense NM_001407956.1:c.545A>G NP_001394885.1:p.Lys182Arg missense NM_001407957.1:c.548A>G NP_001394886.1:p.Lys183Arg missense NM_001407958.1:c.545A>G NP_001394887.1:p.Lys182Arg missense NM_001407959.1:c.500A>G NP_001394888.1:p.Lys167Arg missense NM_001407960.1:c.500A>G NP_001394889.1:p.Lys167Arg missense NM_001407962.1:c.497A>G NP_001394891.1:p.Lys166Arg missense NM_001407963.1:c.500A>G NP_001394892.1:p.Lys167Arg missense NM_001407964.1:c.737A>G NP_001394893.1:p.Lys246Arg missense NM_001407965.1:c.377A>G NP_001394894.1:p.Lys126Arg missense NM_001407966.1:c.-8A>G 5 prime UTR NM_001407967.1:c.-8A>G 5 prime UTR NM_001407968.1:c.787+94A>G intron variant NM_001407969.1:c.787+94A>G intron variant NM_001407970.1:c.787+94A>G intron variant NM_001407971.1:c.787+94A>G intron variant NM_001407972.1:c.784+94A>G intron variant NM_001407973.1:c.787+94A>G intron variant NM_001407974.1:c.787+94A>G intron variant NM_001407975.1:c.787+94A>G intron variant NM_001407976.1:c.787+94A>G intron variant NM_001407977.1:c.787+94A>G intron variant NM_001407978.1:c.787+94A>G intron variant NM_001407979.1:c.787+94A>G intron variant NM_001407980.1:c.787+94A>G intron variant NM_001407981.1:c.787+94A>G intron variant NM_001407982.1:c.787+94A>G intron variant NM_001407983.1:c.787+94A>G intron variant NM_001407984.1:c.784+94A>G intron variant NM_001407985.1:c.784+94A>G intron variant NM_001407986.1:c.784+94A>G intron variant NM_001407990.1:c.787+94A>G intron variant NM_001407991.1:c.784+94A>G intron variant NM_001407992.1:c.784+94A>G intron variant NM_001407993.1:c.787+94A>G intron variant NM_001408392.1:c.784+94A>G intron variant NM_001408396.1:c.784+94A>G intron variant NM_001408397.1:c.784+94A>G intron variant NM_001408398.1:c.784+94A>G intron variant NM_001408399.1:c.784+94A>G intron variant NM_001408400.1:c.784+94A>G intron variant NM_001408401.1:c.784+94A>G intron variant NM_001408402.1:c.784+94A>G intron variant NM_001408403.1:c.787+94A>G intron variant NM_001408404.1:c.787+94A>G intron variant NM_001408406.1:c.790+91A>G intron variant NM_001408407.1:c.784+94A>G intron variant NM_001408408.1:c.778+94A>G intron variant NM_001408409.1:c.709+94A>G intron variant NM_001408410.1:c.646+94A>G intron variant NM_001408411.1:c.709+94A>G intron variant NM_001408412.1:c.709+94A>G intron variant NM_001408413.1:c.706+94A>G intron variant NM_001408414.1:c.709+94A>G intron variant NM_001408415.1:c.709+94A>G intron variant NM_001408416.1:c.706+94A>G intron variant NM_001408418.1:c.670+1196A>G intron variant NM_001408419.1:c.670+1196A>G intron variant NM_001408420.1:c.670+1196A>G intron variant NM_001408421.1:c.667+1196A>G intron variant NM_001408422.1:c.670+1196A>G intron variant NM_001408423.1:c.670+1196A>G intron variant NM_001408424.1:c.667+1196A>G intron variant NM_001408425.1:c.664+94A>G intron variant NM_001408426.1:c.664+94A>G intron variant NM_001408427.1:c.664+94A>G intron variant NM_001408428.1:c.664+94A>G intron variant NM_001408429.1:c.664+94A>G intron variant NM_001408430.1:c.664+94A>G intron variant NM_001408431.1:c.667+1196A>G intron variant NM_001408432.1:c.661+94A>G intron variant NM_001408433.1:c.661+94A>G intron variant NM_001408434.1:c.661+94A>G intron variant NM_001408435.1:c.661+94A>G intron variant NM_001408436.1:c.664+94A>G intron variant NM_001408437.1:c.664+94A>G intron variant NM_001408438.1:c.664+94A>G intron variant NM_001408439.1:c.664+94A>G intron variant NM_001408440.1:c.664+94A>G intron variant NM_001408441.1:c.664+94A>G intron variant NM_001408442.1:c.664+94A>G intron variant NM_001408443.1:c.664+94A>G intron variant NM_001408444.1:c.664+94A>G intron variant NM_001408445.1:c.661+94A>G intron variant NM_001408446.1:c.661+94A>G intron variant NM_001408447.1:c.661+94A>G intron variant NM_001408448.1:c.661+94A>G intron variant NM_001408450.1:c.661+94A>G intron variant NM_001408451.1:c.652+94A>G intron variant NM_001408452.1:c.646+94A>G intron variant NM_001408453.1:c.646+94A>G intron variant NM_001408454.1:c.646+94A>G intron variant NM_001408455.1:c.646+94A>G intron variant NM_001408456.1:c.646+94A>G intron variant NM_001408457.1:c.646+94A>G intron variant NM_001408458.1:c.646+94A>G intron variant NM_001408459.1:c.646+94A>G intron variant NM_001408460.1:c.646+94A>G intron variant NM_001408461.1:c.646+94A>G intron variant NM_001408462.1:c.643+94A>G intron variant NM_001408463.1:c.643+94A>G intron variant NM_001408464.1:c.643+94A>G intron variant NM_001408465.1:c.643+94A>G intron variant NM_001408466.1:c.646+94A>G intron variant NM_001408467.1:c.646+94A>G intron variant NM_001408468.1:c.643+94A>G intron variant NM_001408469.1:c.646+94A>G intron variant NM_001408470.1:c.643+94A>G intron variant NM_001408472.1:c.787+94A>G intron variant NM_001408473.1:c.784+94A>G intron variant NM_001408474.1:c.586+94A>G intron variant NM_001408475.1:c.583+94A>G intron variant NM_001408476.1:c.586+94A>G intron variant NM_001408478.1:c.577+94A>G intron variant NM_001408479.1:c.577+94A>G intron variant NM_001408480.1:c.577+94A>G intron variant NM_001408481.1:c.577+94A>G intron variant NM_001408482.1:c.577+94A>G intron variant NM_001408483.1:c.577+94A>G intron variant NM_001408484.1:c.577+94A>G intron variant NM_001408485.1:c.577+94A>G intron variant NM_001408489.1:c.577+94A>G intron variant NM_001408490.1:c.574+94A>G intron variant NM_001408491.1:c.574+94A>G intron variant NM_001408492.1:c.577+94A>G intron variant NM_001408493.1:c.574+94A>G intron variant NM_001408494.1:c.548-3618A>G intron variant NM_001408495.1:c.545-3618A>G intron variant NM_001408496.1:c.523+94A>G intron variant NM_001408497.1:c.523+94A>G intron variant NM_001408498.1:c.523+94A>G intron variant NM_001408499.1:c.523+94A>G intron variant NM_001408500.1:c.523+94A>G intron variant NM_001408501.1:c.523+94A>G intron variant NM_001408502.1:c.454+94A>G intron variant NM_001408503.1:c.520+94A>G intron variant NM_001408504.1:c.520+94A>G intron variant NM_001408505.1:c.520+94A>G intron variant NM_001408506.1:c.460+1196A>G intron variant NM_001408507.1:c.460+1196A>G intron variant NM_001408508.1:c.451+94A>G intron variant NM_001408509.1:c.451+94A>G intron variant NM_001408510.1:c.406+94A>G intron variant NM_001408511.1:c.404-3618A>G intron variant NM_001408512.1:c.283+94A>G intron variant NM_001408513.1:c.577+94A>G intron variant NM_001408514.1:c.577+94A>G intron variant NM_007297.4:c.740A>G NP_009228.2:p.Lys247Arg missense NM_007298.4:c.787+94A>G intron variant NM_007299.4:c.787+94A>G intron variant NM_007300.4:c.881A>G NP_009231.2:p.Lys294Arg missense NR_027676.1:n.1017A>G NC_000017.11:g.43094650T>C NC_000017.10:g.41246667T>C NG_005905.2:g.123334A>G LRG_292:g.123334A>G LRG_292t1:c.881A>G LRG_292p1:p.Lys294Arg - Protein change
- K294R, K247R, K126R, K167R, K183R, K246R, K268R, K293R, K205R, K227R, K206R, K223R, K252R, K291R, K166R, K182R, K224R, K226R, K253R, K267R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094649:T:C
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD), exomes 0.00000
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13863 | 15834 | |
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
|
Oct 27, 2017 | RCV000637501.10 | |
| Likely benign (1) |
criteria provided, single submitter
|
Mar 23, 2023 | RCV003157761.3 |
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. |
Expand all rows
Collapse all rows
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. |
|
|---|---|---|---|---|---|
|
Likely benign
(Mar 23, 2023)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary cancer-predisposing syndrome |
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003847878.1
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:
show
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). (less)
Observation: 1
Collection method: curation
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: curation
Allele origin: germline
Affected status: unknown
|
|
|
Uncertain significance
(Oct 27, 2017)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary breast ovarian cancer syndrome |
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000758962.6
First in ClinVar: May 28, 2018 Last updated: Mar 07, 2026 |
Comment:
show
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 294 of the BRCA1 protein (p.Lys294Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
Comment:
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 294 of the BRCA1 protein (p.Lys294Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine.
Citations for germline classification of this variant
Help| Title | 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 |
Text-mined citations for rs1555592934 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Mar 08, 2026
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.