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.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His)
Germline
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.
(17)
Help
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.
Benign/Likely benign
17
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His)
Variation ID: 54930 Accession: VCV000054930.53
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091931 (GRCh38) [ NCBI UCSC ] 17: 41243948 (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 Apr 1, 2014 May 1, 2024 Feb 5, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3600G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1200His missense NM_001407571.1:c.3387G>C NP_001394500.1:p.Gln1129His missense NM_001407581.1:c.3600G>C NP_001394510.1:p.Gln1200His missense NM_001407582.1:c.3600G>C NP_001394511.1:p.Gln1200His missense NM_001407583.1:c.3600G>C NP_001394512.1:p.Gln1200His missense NM_001407585.1:c.3600G>C NP_001394514.1:p.Gln1200His missense NM_001407587.1:c.3597G>C NP_001394516.1:p.Gln1199His missense NM_001407590.1:c.3597G>C NP_001394519.1:p.Gln1199His missense NM_001407591.1:c.3597G>C NP_001394520.1:p.Gln1199His missense NM_001407593.1:c.3600G>C NP_001394522.1:p.Gln1200His missense NM_001407594.1:c.3600G>C NP_001394523.1:p.Gln1200His missense NM_001407596.1:c.3600G>C NP_001394525.1:p.Gln1200His missense NM_001407597.1:c.3600G>C NP_001394526.1:p.Gln1200His missense NM_001407598.1:c.3600G>C NP_001394527.1:p.Gln1200His missense NM_001407602.1:c.3600G>C NP_001394531.1:p.Gln1200His missense NM_001407603.1:c.3600G>C NP_001394532.1:p.Gln1200His missense NM_001407605.1:c.3600G>C NP_001394534.1:p.Gln1200His missense NM_001407610.1:c.3597G>C NP_001394539.1:p.Gln1199His missense NM_001407611.1:c.3597G>C NP_001394540.1:p.Gln1199His missense NM_001407612.1:c.3597G>C NP_001394541.1:p.Gln1199His missense NM_001407613.1:c.3597G>C NP_001394542.1:p.Gln1199His missense NM_001407614.1:c.3597G>C NP_001394543.1:p.Gln1199His missense NM_001407615.1:c.3597G>C NP_001394544.1:p.Gln1199His missense NM_001407616.1:c.3600G>C NP_001394545.1:p.Gln1200His missense NM_001407617.1:c.3600G>C NP_001394546.1:p.Gln1200His missense NM_001407618.1:c.3600G>C NP_001394547.1:p.Gln1200His missense NM_001407619.1:c.3600G>C NP_001394548.1:p.Gln1200His missense NM_001407620.1:c.3600G>C NP_001394549.1:p.Gln1200His missense NM_001407621.1:c.3600G>C NP_001394550.1:p.Gln1200His missense NM_001407622.1:c.3600G>C NP_001394551.1:p.Gln1200His missense NM_001407623.1:c.3600G>C NP_001394552.1:p.Gln1200His missense NM_001407624.1:c.3600G>C NP_001394553.1:p.Gln1200His missense NM_001407625.1:c.3600G>C NP_001394554.1:p.Gln1200His missense NM_001407626.1:c.3600G>C NP_001394555.1:p.Gln1200His missense NM_001407627.1:c.3597G>C NP_001394556.1:p.Gln1199His missense NM_001407628.1:c.3597G>C NP_001394557.1:p.Gln1199His missense NM_001407629.1:c.3597G>C NP_001394558.1:p.Gln1199His missense NM_001407630.1:c.3597G>C NP_001394559.1:p.Gln1199His missense NM_001407631.1:c.3597G>C NP_001394560.1:p.Gln1199His missense NM_001407632.1:c.3597G>C NP_001394561.1:p.Gln1199His missense NM_001407633.1:c.3597G>C NP_001394562.1:p.Gln1199His missense NM_001407634.1:c.3597G>C NP_001394563.1:p.Gln1199His missense NM_001407635.1:c.3597G>C NP_001394564.1:p.Gln1199His missense NM_001407636.1:c.3597G>C NP_001394565.1:p.Gln1199His missense NM_001407637.1:c.3597G>C NP_001394566.1:p.Gln1199His missense NM_001407638.1:c.3597G>C NP_001394567.1:p.Gln1199His missense NM_001407639.1:c.3600G>C NP_001394568.1:p.Gln1200His missense NM_001407640.1:c.3600G>C NP_001394569.1:p.Gln1200His missense NM_001407641.1:c.3600G>C NP_001394570.1:p.Gln1200His missense NM_001407642.1:c.3600G>C NP_001394571.1:p.Gln1200His missense NM_001407644.1:c.3597G>C NP_001394573.1:p.Gln1199His missense NM_001407645.1:c.3597G>C NP_001394574.1:p.Gln1199His missense NM_001407646.1:c.3591G>C NP_001394575.1:p.Gln1197His missense NM_001407647.1:c.3591G>C NP_001394576.1:p.Gln1197His missense NM_001407648.1:c.3477G>C NP_001394577.1:p.Gln1159His missense NM_001407649.1:c.3474G>C NP_001394578.1:p.Gln1158His missense NM_001407652.1:c.3600G>C NP_001394581.1:p.Gln1200His missense NM_001407653.1:c.3522G>C NP_001394582.1:p.Gln1174His missense NM_001407654.1:c.3522G>C NP_001394583.1:p.Gln1174His missense NM_001407655.1:c.3522G>C NP_001394584.1:p.Gln1174His missense NM_001407656.1:c.3522G>C NP_001394585.1:p.Gln1174His missense NM_001407657.1:c.3522G>C NP_001394586.1:p.Gln1174His missense NM_001407658.1:c.3522G>C NP_001394587.1:p.Gln1174His missense NM_001407659.1:c.3519G>C NP_001394588.1:p.Gln1173His missense NM_001407660.1:c.3519G>C NP_001394589.1:p.Gln1173His missense NM_001407661.1:c.3519G>C NP_001394590.1:p.Gln1173His missense NM_001407662.1:c.3519G>C NP_001394591.1:p.Gln1173His missense NM_001407663.1:c.3522G>C NP_001394592.1:p.Gln1174His missense NM_001407664.1:c.3477G>C NP_001394593.1:p.Gln1159His missense NM_001407665.1:c.3477G>C NP_001394594.1:p.Gln1159His missense NM_001407666.1:c.3477G>C NP_001394595.1:p.Gln1159His missense NM_001407667.1:c.3477G>C NP_001394596.1:p.Gln1159His missense NM_001407668.1:c.3477G>C NP_001394597.1:p.Gln1159His missense NM_001407669.1:c.3477G>C NP_001394598.1:p.Gln1159His missense NM_001407670.1:c.3474G>C NP_001394599.1:p.Gln1158His missense NM_001407671.1:c.3474G>C NP_001394600.1:p.Gln1158His missense NM_001407672.1:c.3474G>C NP_001394601.1:p.Gln1158His missense NM_001407673.1:c.3474G>C NP_001394602.1:p.Gln1158His missense NM_001407674.1:c.3477G>C NP_001394603.1:p.Gln1159His missense NM_001407675.1:c.3477G>C NP_001394604.1:p.Gln1159His missense NM_001407676.1:c.3477G>C NP_001394605.1:p.Gln1159His missense NM_001407677.1:c.3477G>C NP_001394606.1:p.Gln1159His missense NM_001407678.1:c.3477G>C NP_001394607.1:p.Gln1159His missense NM_001407679.1:c.3477G>C NP_001394608.1:p.Gln1159His missense NM_001407680.1:c.3477G>C NP_001394609.1:p.Gln1159His missense NM_001407681.1:c.3477G>C NP_001394610.1:p.Gln1159His missense NM_001407682.1:c.3477G>C NP_001394611.1:p.Gln1159His missense NM_001407683.1:c.3477G>C NP_001394612.1:p.Gln1159His missense NM_001407684.1:c.3600G>C NP_001394613.1:p.Gln1200His missense NM_001407685.1:c.3474G>C NP_001394614.1:p.Gln1158His missense NM_001407686.1:c.3474G>C NP_001394615.1:p.Gln1158His missense NM_001407687.1:c.3474G>C NP_001394616.1:p.Gln1158His missense NM_001407688.1:c.3474G>C NP_001394617.1:p.Gln1158His missense NM_001407689.1:c.3474G>C NP_001394618.1:p.Gln1158His missense NM_001407690.1:c.3474G>C NP_001394619.1:p.Gln1158His missense NM_001407691.1:c.3474G>C NP_001394620.1:p.Gln1158His missense NM_001407692.1:c.3459G>C NP_001394621.1:p.Gln1153His missense NM_001407694.1:c.3459G>C NP_001394623.1:p.Gln1153His missense NM_001407695.1:c.3459G>C NP_001394624.1:p.Gln1153His missense NM_001407696.1:c.3459G>C NP_001394625.1:p.Gln1153His missense NM_001407697.1:c.3459G>C NP_001394626.1:p.Gln1153His missense NM_001407698.1:c.3459G>C NP_001394627.1:p.Gln1153His missense NM_001407724.1:c.3459G>C NP_001394653.1:p.Gln1153His missense NM_001407725.1:c.3459G>C NP_001394654.1:p.Gln1153His missense NM_001407726.1:c.3459G>C NP_001394655.1:p.Gln1153His missense NM_001407727.1:c.3459G>C NP_001394656.1:p.Gln1153His missense NM_001407728.1:c.3459G>C NP_001394657.1:p.Gln1153His missense NM_001407729.1:c.3459G>C NP_001394658.1:p.Gln1153His missense NM_001407730.1:c.3459G>C NP_001394659.1:p.Gln1153His missense NM_001407731.1:c.3459G>C NP_001394660.1:p.Gln1153His missense NM_001407732.1:c.3459G>C NP_001394661.1:p.Gln1153His missense NM_001407733.1:c.3459G>C NP_001394662.1:p.Gln1153His missense NM_001407734.1:c.3459G>C NP_001394663.1:p.Gln1153His missense NM_001407735.1:c.3459G>C NP_001394664.1:p.Gln1153His missense NM_001407736.1:c.3459G>C NP_001394665.1:p.Gln1153His missense NM_001407737.1:c.3459G>C NP_001394666.1:p.Gln1153His missense NM_001407738.1:c.3459G>C NP_001394667.1:p.Gln1153His missense NM_001407739.1:c.3459G>C NP_001394668.1:p.Gln1153His missense NM_001407740.1:c.3456G>C NP_001394669.1:p.Gln1152His missense NM_001407741.1:c.3456G>C NP_001394670.1:p.Gln1152His missense NM_001407742.1:c.3456G>C NP_001394671.1:p.Gln1152His missense NM_001407743.1:c.3456G>C NP_001394672.1:p.Gln1152His missense NM_001407744.1:c.3456G>C NP_001394673.1:p.Gln1152His missense NM_001407745.1:c.3456G>C NP_001394674.1:p.Gln1152His missense NM_001407746.1:c.3456G>C NP_001394675.1:p.Gln1152His missense NM_001407747.1:c.3456G>C NP_001394676.1:p.Gln1152His missense NM_001407748.1:c.3456G>C NP_001394677.1:p.Gln1152His missense NM_001407749.1:c.3456G>C NP_001394678.1:p.Gln1152His missense NM_001407750.1:c.3459G>C NP_001394679.1:p.Gln1153His missense NM_001407751.1:c.3459G>C NP_001394680.1:p.Gln1153His missense NM_001407752.1:c.3459G>C NP_001394681.1:p.Gln1153His missense NM_001407838.1:c.3456G>C NP_001394767.1:p.Gln1152His missense NM_001407839.1:c.3456G>C NP_001394768.1:p.Gln1152His missense NM_001407841.1:c.3456G>C NP_001394770.1:p.Gln1152His missense NM_001407842.1:c.3456G>C NP_001394771.1:p.Gln1152His missense NM_001407843.1:c.3456G>C NP_001394772.1:p.Gln1152His missense NM_001407844.1:c.3456G>C NP_001394773.1:p.Gln1152His missense NM_001407845.1:c.3456G>C NP_001394774.1:p.Gln1152His missense NM_001407846.1:c.3456G>C NP_001394775.1:p.Gln1152His missense NM_001407847.1:c.3456G>C NP_001394776.1:p.Gln1152His missense NM_001407848.1:c.3456G>C NP_001394777.1:p.Gln1152His missense NM_001407849.1:c.3456G>C NP_001394778.1:p.Gln1152His missense NM_001407850.1:c.3459G>C NP_001394779.1:p.Gln1153His missense NM_001407851.1:c.3459G>C NP_001394780.1:p.Gln1153His missense NM_001407852.1:c.3459G>C NP_001394781.1:p.Gln1153His missense NM_001407853.1:c.3387G>C NP_001394782.1:p.Gln1129His missense NM_001407854.1:c.3600G>C NP_001394783.1:p.Gln1200His missense NM_001407858.1:c.3600G>C NP_001394787.1:p.Gln1200His missense NM_001407859.1:c.3600G>C NP_001394788.1:p.Gln1200His missense NM_001407860.1:c.3597G>C NP_001394789.1:p.Gln1199His missense NM_001407861.1:c.3597G>C NP_001394790.1:p.Gln1199His missense NM_001407862.1:c.3399G>C NP_001394791.1:p.Gln1133His missense NM_001407863.1:c.3477G>C NP_001394792.1:p.Gln1159His missense NM_001407874.1:c.3396G>C NP_001394803.1:p.Gln1132His missense NM_001407875.1:c.3396G>C NP_001394804.1:p.Gln1132His missense NM_001407879.1:c.3390G>C NP_001394808.1:p.Gln1130His missense NM_001407881.1:c.3390G>C NP_001394810.1:p.Gln1130His missense NM_001407882.1:c.3390G>C NP_001394811.1:p.Gln1130His missense NM_001407884.1:c.3390G>C NP_001394813.1:p.Gln1130His missense NM_001407885.1:c.3390G>C NP_001394814.1:p.Gln1130His missense NM_001407886.1:c.3390G>C NP_001394815.1:p.Gln1130His missense NM_001407887.1:c.3390G>C NP_001394816.1:p.Gln1130His missense NM_001407889.1:c.3390G>C NP_001394818.1:p.Gln1130His missense NM_001407894.1:c.3387G>C NP_001394823.1:p.Gln1129His missense NM_001407895.1:c.3387G>C NP_001394824.1:p.Gln1129His missense NM_001407896.1:c.3387G>C NP_001394825.1:p.Gln1129His missense NM_001407897.1:c.3387G>C NP_001394826.1:p.Gln1129His missense NM_001407898.1:c.3387G>C NP_001394827.1:p.Gln1129His missense NM_001407899.1:c.3387G>C NP_001394828.1:p.Gln1129His missense NM_001407900.1:c.3390G>C NP_001394829.1:p.Gln1130His missense NM_001407902.1:c.3390G>C NP_001394831.1:p.Gln1130His missense NM_001407904.1:c.3390G>C NP_001394833.1:p.Gln1130His missense NM_001407906.1:c.3390G>C NP_001394835.1:p.Gln1130His missense NM_001407907.1:c.3390G>C NP_001394836.1:p.Gln1130His missense NM_001407908.1:c.3390G>C NP_001394837.1:p.Gln1130His missense NM_001407909.1:c.3390G>C NP_001394838.1:p.Gln1130His missense NM_001407910.1:c.3390G>C NP_001394839.1:p.Gln1130His missense NM_001407915.1:c.3387G>C NP_001394844.1:p.Gln1129His missense NM_001407916.1:c.3387G>C NP_001394845.1:p.Gln1129His missense NM_001407917.1:c.3387G>C NP_001394846.1:p.Gln1129His missense NM_001407918.1:c.3387G>C NP_001394847.1:p.Gln1129His missense NM_001407919.1:c.3477G>C NP_001394848.1:p.Gln1159His missense NM_001407920.1:c.3336G>C NP_001394849.1:p.Gln1112His missense NM_001407921.1:c.3336G>C NP_001394850.1:p.Gln1112His missense NM_001407922.1:c.3336G>C NP_001394851.1:p.Gln1112His missense NM_001407923.1:c.3336G>C NP_001394852.1:p.Gln1112His missense NM_001407924.1:c.3336G>C NP_001394853.1:p.Gln1112His missense NM_001407925.1:c.3336G>C NP_001394854.1:p.Gln1112His missense NM_001407926.1:c.3336G>C NP_001394855.1:p.Gln1112His missense NM_001407927.1:c.3336G>C NP_001394856.1:p.Gln1112His missense NM_001407928.1:c.3336G>C NP_001394857.1:p.Gln1112His missense NM_001407929.1:c.3336G>C NP_001394858.1:p.Gln1112His missense NM_001407930.1:c.3333G>C NP_001394859.1:p.Gln1111His missense NM_001407931.1:c.3333G>C NP_001394860.1:p.Gln1111His missense NM_001407932.1:c.3333G>C NP_001394861.1:p.Gln1111His missense NM_001407933.1:c.3336G>C NP_001394862.1:p.Gln1112His missense NM_001407934.1:c.3333G>C NP_001394863.1:p.Gln1111His missense NM_001407935.1:c.3336G>C NP_001394864.1:p.Gln1112His missense NM_001407936.1:c.3333G>C NP_001394865.1:p.Gln1111His missense NM_001407937.1:c.3477G>C NP_001394866.1:p.Gln1159His missense NM_001407938.1:c.3477G>C NP_001394867.1:p.Gln1159His missense NM_001407939.1:c.3477G>C NP_001394868.1:p.Gln1159His missense NM_001407940.1:c.3474G>C NP_001394869.1:p.Gln1158His missense NM_001407941.1:c.3474G>C NP_001394870.1:p.Gln1158His missense NM_001407942.1:c.3459G>C NP_001394871.1:p.Gln1153His missense NM_001407943.1:c.3456G>C NP_001394872.1:p.Gln1152His missense NM_001407944.1:c.3459G>C NP_001394873.1:p.Gln1153His missense NM_001407945.1:c.3459G>C NP_001394874.1:p.Gln1153His missense NM_001407946.1:c.3267G>C NP_001394875.1:p.Gln1089His missense NM_001407947.1:c.3267G>C NP_001394876.1:p.Gln1089His missense NM_001407948.1:c.3267G>C NP_001394877.1:p.Gln1089His missense NM_001407949.1:c.3267G>C NP_001394878.1:p.Gln1089His missense NM_001407950.1:c.3267G>C NP_001394879.1:p.Gln1089His missense NM_001407951.1:c.3267G>C NP_001394880.1:p.Gln1089His missense NM_001407952.1:c.3267G>C NP_001394881.1:p.Gln1089His missense NM_001407953.1:c.3267G>C NP_001394882.1:p.Gln1089His missense NM_001407954.1:c.3264G>C NP_001394883.1:p.Gln1088His missense NM_001407955.1:c.3264G>C NP_001394884.1:p.Gln1088His missense NM_001407956.1:c.3264G>C NP_001394885.1:p.Gln1088His missense NM_001407957.1:c.3267G>C NP_001394886.1:p.Gln1089His missense NM_001407958.1:c.3264G>C NP_001394887.1:p.Gln1088His missense NM_001407959.1:c.3219G>C NP_001394888.1:p.Gln1073His missense NM_001407960.1:c.3219G>C NP_001394889.1:p.Gln1073His missense NM_001407962.1:c.3216G>C NP_001394891.1:p.Gln1072His missense NM_001407963.1:c.3219G>C NP_001394892.1:p.Gln1073His missense NM_001407964.1:c.3456G>C NP_001394893.1:p.Gln1152His missense NM_001407965.1:c.3096G>C NP_001394894.1:p.Gln1032His missense NM_001407966.1:c.2712G>C NP_001394895.1:p.Gln904His missense NM_001407967.1:c.2712G>C NP_001394896.1:p.Gln904His missense NM_001407968.1:c.996G>C NP_001394897.1:p.Gln332His missense NM_001407969.1:c.996G>C NP_001394898.1:p.Gln332His missense NM_001407970.1:c.788-899G>C intron variant NM_001407971.1:c.788-899G>C intron variant NM_001407972.1:c.785-899G>C intron variant NM_001407973.1:c.788-899G>C intron variant NM_001407974.1:c.788-899G>C intron variant NM_001407975.1:c.788-899G>C intron variant NM_001407976.1:c.788-899G>C intron variant NM_001407977.1:c.788-899G>C intron variant NM_001407978.1:c.788-899G>C intron variant NM_001407979.1:c.788-899G>C intron variant NM_001407980.1:c.788-899G>C intron variant NM_001407981.1:c.788-899G>C intron variant NM_001407982.1:c.788-899G>C intron variant NM_001407983.1:c.788-899G>C intron variant NM_001407984.1:c.785-899G>C intron variant NM_001407985.1:c.785-899G>C intron variant NM_001407986.1:c.785-899G>C intron variant NM_001407990.1:c.788-899G>C intron variant NM_001407991.1:c.785-899G>C intron variant NM_001407992.1:c.785-899G>C intron variant NM_001407993.1:c.788-899G>C intron variant NM_001408392.1:c.785-899G>C intron variant NM_001408396.1:c.785-899G>C intron variant NM_001408397.1:c.785-899G>C intron variant NM_001408398.1:c.785-899G>C intron variant NM_001408399.1:c.785-899G>C intron variant NM_001408400.1:c.785-899G>C intron variant NM_001408401.1:c.785-899G>C intron variant NM_001408402.1:c.785-899G>C intron variant NM_001408403.1:c.788-899G>C intron variant NM_001408404.1:c.788-899G>C intron variant NM_001408406.1:c.791-908G>C intron variant NM_001408407.1:c.785-899G>C intron variant NM_001408408.1:c.779-899G>C intron variant NM_001408409.1:c.710-899G>C intron variant NM_001408410.1:c.647-899G>C intron variant NM_001408411.1:c.710-899G>C intron variant NM_001408412.1:c.710-899G>C intron variant NM_001408413.1:c.707-899G>C intron variant NM_001408414.1:c.710-899G>C intron variant NM_001408415.1:c.710-899G>C intron variant NM_001408416.1:c.707-899G>C intron variant NM_001408418.1:c.671-899G>C intron variant NM_001408419.1:c.671-899G>C intron variant NM_001408420.1:c.671-899G>C intron variant NM_001408421.1:c.668-899G>C intron variant NM_001408422.1:c.671-899G>C intron variant NM_001408423.1:c.671-899G>C intron variant NM_001408424.1:c.668-899G>C intron variant NM_001408425.1:c.665-899G>C intron variant NM_001408426.1:c.665-899G>C intron variant NM_001408427.1:c.665-899G>C intron variant NM_001408428.1:c.665-899G>C intron variant NM_001408429.1:c.665-899G>C intron variant NM_001408430.1:c.665-899G>C intron variant NM_001408431.1:c.668-899G>C intron variant NM_001408432.1:c.662-899G>C intron variant NM_001408433.1:c.662-899G>C intron variant NM_001408434.1:c.662-899G>C intron variant NM_001408435.1:c.662-899G>C intron variant NM_001408436.1:c.665-899G>C intron variant NM_001408437.1:c.665-899G>C intron variant NM_001408438.1:c.665-899G>C intron variant NM_001408439.1:c.665-899G>C intron variant NM_001408440.1:c.665-899G>C intron variant NM_001408441.1:c.665-899G>C intron variant NM_001408442.1:c.665-899G>C intron variant NM_001408443.1:c.665-899G>C intron variant NM_001408444.1:c.665-899G>C intron variant NM_001408445.1:c.662-899G>C intron variant NM_001408446.1:c.662-899G>C intron variant NM_001408447.1:c.662-899G>C intron variant NM_001408448.1:c.662-899G>C intron variant NM_001408450.1:c.662-899G>C intron variant NM_001408451.1:c.653-899G>C intron variant NM_001408452.1:c.647-899G>C intron variant NM_001408453.1:c.647-899G>C intron variant NM_001408454.1:c.647-899G>C intron variant NM_001408455.1:c.647-899G>C intron variant NM_001408456.1:c.647-899G>C intron variant NM_001408457.1:c.647-899G>C intron variant NM_001408458.1:c.647-899G>C intron variant NM_001408459.1:c.647-899G>C intron variant NM_001408460.1:c.647-899G>C intron variant NM_001408461.1:c.647-899G>C intron variant NM_001408462.1:c.644-899G>C intron variant NM_001408463.1:c.644-899G>C intron variant NM_001408464.1:c.644-899G>C intron variant NM_001408465.1:c.644-899G>C intron variant NM_001408466.1:c.647-899G>C intron variant NM_001408467.1:c.647-899G>C intron variant NM_001408468.1:c.644-899G>C intron variant NM_001408469.1:c.647-899G>C intron variant NM_001408470.1:c.644-899G>C intron variant NM_001408472.1:c.788-899G>C intron variant NM_001408473.1:c.785-899G>C intron variant NM_001408474.1:c.587-899G>C intron variant NM_001408475.1:c.584-899G>C intron variant NM_001408476.1:c.587-899G>C intron variant NM_001408478.1:c.578-899G>C intron variant NM_001408479.1:c.578-899G>C intron variant NM_001408480.1:c.578-899G>C intron variant NM_001408481.1:c.578-899G>C intron variant NM_001408482.1:c.578-899G>C intron variant NM_001408483.1:c.578-899G>C intron variant NM_001408484.1:c.578-899G>C intron variant NM_001408485.1:c.578-899G>C intron variant NM_001408489.1:c.578-899G>C intron variant NM_001408490.1:c.575-899G>C intron variant NM_001408491.1:c.575-899G>C intron variant NM_001408492.1:c.578-899G>C intron variant NM_001408493.1:c.575-899G>C intron variant NM_001408494.1:c.548-899G>C intron variant NM_001408495.1:c.545-899G>C intron variant NM_001408496.1:c.524-899G>C intron variant NM_001408497.1:c.524-899G>C intron variant NM_001408498.1:c.524-899G>C intron variant NM_001408499.1:c.524-899G>C intron variant NM_001408500.1:c.524-899G>C intron variant NM_001408501.1:c.524-899G>C intron variant NM_001408502.1:c.455-899G>C intron variant NM_001408503.1:c.521-899G>C intron variant NM_001408504.1:c.521-899G>C intron variant NM_001408505.1:c.521-899G>C intron variant NM_001408506.1:c.461-899G>C intron variant NM_001408507.1:c.461-899G>C intron variant NM_001408508.1:c.452-899G>C intron variant NM_001408509.1:c.452-899G>C intron variant NM_001408510.1:c.407-899G>C intron variant NM_001408511.1:c.404-899G>C intron variant NM_001408512.1:c.284-899G>C intron variant NM_001408513.1:c.578-899G>C intron variant NM_001408514.1:c.578-899G>C intron variant NM_007297.4:c.3459G>C NP_009228.2:p.Gln1153His missense NM_007298.4:c.788-899G>C intron variant NM_007299.4:c.788-899G>C intron variant NM_007300.4:c.3600G>C NP_009231.2:p.Gln1200His missense NR_027676.1:n.3736G>C NC_000017.11:g.43091931C>G NC_000017.10:g.41243948C>G NG_005905.2:g.126053G>C NG_087068.1:g.913C>G LRG_292:g.126053G>C LRG_292t1:c.3600G>C LRG_292p1:p.Gln1200His P38398:p.Gln1200His U14680.1:n.3719G>C - Protein change
- Q1200H, Q1153H, Q1072H, Q1112H, Q1129H, Q1130H, Q1133H, Q1174H, Q1199H, Q1073H, Q1088H, Q1152H, Q1158H, Q1159H, Q1173H, Q1197H, Q332H, Q1032H, Q1089H, Q1111H, Q1132H, Q904H
- Other names
- p.Q1200H:CAG>CAC
- NP_009225.1:p.Gln1200His
- Canonical SPDI
- NC_000017.11:43091930: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.
-
0.00080 (G)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00078
1000 Genomes Project 0.00080
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00092
Trans-Omics for Precision Medicine (TOPMed) 0.00112
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 |
13013 | 14815 | |
| LOC126862571 | - | - | - | GRCh38 | - | 1649 |
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. |
|---|---|---|---|---|
| Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
Feb 5, 2024 | RCV000112129.18 | |
| Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
May 2, 2017 | RCV000120295.24 | |
| Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 28, 2021 | RCV000162833.15 | |
| Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Feb 1, 2024 | RCV000167802.22 | |
| Benign (1) |
no assertion criteria provided
|
Nov 4, 2013 | RCV000735466.9 | |
| Benign (1) |
no assertion criteria provided
|
- | RCV001353562.9 | |
| Benign (1) |
criteria provided, single submitter
|
Dec 9, 2020 | RCV001811339.13 |
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
(Nov 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000195923.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
|
|
|
Likely benign
(Feb 14, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome(HBOC)
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV000576440.1
First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017 |
|
|
|
Likely benign
(May 02, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000593673.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
|
|
|
Benign
(Apr 25, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000806936.1
First in ClinVar: Sep 13, 2018 Last updated: Sep 13, 2018 |
|
|
|
Likely benign
(Nov 16, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002025954.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 3
Geographic origin: South Africa
Testing laboratory: National Health Laboratory Service (NHLS)
|
|
|
Benign
(Dec 09, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602690.3
First in ClinVar: Sep 28, 2017 Last updated: Jan 08, 2022 |
|
|
|
Likely benign
(Nov 17, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683114.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
|
|
Likely benign
(Sep 03, 2014)
|
criteria provided, single submitter
Method: literature only
|
Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000220665.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
|
|
|
Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076259.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
|
|
Benign
(Nov 18, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000213319.6
First in ClinVar: Mar 24, 2015 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)
|
|
|
Benign
(Feb 05, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000167293.11
First in ClinVar: Jun 23, 2014 Last updated: Sep 28, 2017 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
|
Benign
(Jan 28, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538220.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
|
|
|
Likely Benign
(Feb 05, 2024)
|
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: SCV004817781.1
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: 66
|
|
|
Benign
(May 29, 2002)
|
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: SCV000144802.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
Geographic origin: African American
Observation 3:
Number of individuals with the variant: 1
Geographic origin: Austria
Observation 4:
Number of individuals with the variant: 11
Ethnicity/Population group: African
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: African American, Central/Eastern European
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Native American
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Jamaican (Africian), Scottish
|
|
|
Benign
(Nov 04, 2013)
|
no assertion criteria provided
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863603.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
|
|
|
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: SCV000591454.2 First in ClinVar: May 29, 2016 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Gln1200His variant was identified in at least 11 of 122840 proband chromosomes (frequency 0.005) from individuals or families with breast cancer, ovarian cancer … (more)
The BRCA1 p.Gln1200His variant was identified in at least 11 of 122840 proband chromosomes (frequency 0.005) from individuals or families with breast cancer, ovarian cancer or prostate cancer, and was identified in 1 of 2892 control chromosomes (frequency: 0.0003) (Anczukow 2008, Capanu 2011, Caux-Moncoutier 2011, Judkins 2005, Lee 2008, McKean-Cowdin 2005, Newman 1998, Osorio 2007, Zuhlke 2004). The variant was also identified in the HGMD, UMD (7X as a neutral variant), and the BIC database (17X with no clinical importance). The variant was listed in UMD with a co-occurring pathogenic mutation in BRCA1 (c.5041insATTA (p.Thr1681IlefsX3)), and Judkins (2005) also identified the variant in trans with a pathogenic BRCA1 mutation (BRCA1 4730insG), increasing the likelihood that this variant does not have clinical importance. The variant was listed in dbSNP (ID: rs56214134) with a minor allele frequency of 0.001 (1000 Genomes Project), and in the NHLBI Exome Sequencing Project with a frequency of 0.003 in African American alleles, increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. This residue is not conserved in mammals and lower organisms and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM) do not suggest a high likelihood of impact to the protein. However, this information is not predictive enough to rule out pathogenicity. A functional study by Anczukow (2008) did not detect an effect of the variant on intron 11 splicing efficiency. In addition, two in silico studies using multifactorial likelihood ratio models suggest that this is likely a neutral variant (Lindor 2012, Osorio 2007). In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign. (less)
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
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ITMI
Accession: SCV000084447.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
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Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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Comment:
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Comment:
The BRCA1 p.Gln1200His variant was identified in at least 11 of 122840 proband chromosomes (frequency 0.005) from individuals or families with breast cancer, ovarian cancer or prostate cancer, and was identified in 1 of 2892 control chromosomes (frequency: 0.0003) (Anczukow 2008, Capanu 2011, Caux-Moncoutier 2011, Judkins 2005, Lee 2008, McKean-Cowdin 2005, Newman 1998, Osorio 2007, Zuhlke 2004). The variant was also identified in the HGMD, UMD (7X as a neutral variant), and the BIC database (17X with no clinical importance). The variant was listed in UMD with a co-occurring pathogenic mutation in BRCA1 (c.5041insATTA (p.Thr1681IlefsX3)), and Judkins (2005) also identified the variant in trans with a pathogenic BRCA1 mutation (BRCA1 4730insG), increasing the likelihood that this variant does not have clinical importance. The variant was listed in dbSNP (ID: rs56214134) with a minor allele frequency of 0.001 (1000 Genomes Project), and in the NHLBI Exome Sequencing Project with a frequency of 0.003 in African American alleles, increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. This residue is not conserved in mammals and lower organisms and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM) do not suggest a high likelihood of impact to the protein. However, this information is not predictive enough to rule out pathogenicity. A functional study by Anczukow (2008) did not detect an effect of the variant on intron 11 splicing efficiency. In addition, two in silico studies using multifactorial likelihood ratio models suggest that this is likely a neutral variant (Lindor 2012, Osorio 2007). In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
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.
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Comment:
The BRCA1 p.Gln1200His variant was identified in at least 11 of 122840 proband chromosomes (frequency 0.005) from individuals or families with breast cancer, ovarian cancer or prostate cancer, and was identified in 1 of 2892 control chromosomes (frequency: 0.0003) (Anczukow 2008, Capanu 2011, Caux-Moncoutier 2011, Judkins 2005, Lee 2008, McKean-Cowdin 2005, Newman 1998, Osorio 2007, Zuhlke 2004). The variant was also identified in the HGMD, UMD (7X as a neutral variant), and the BIC database (17X with no clinical importance). The variant was listed in UMD with a co-occurring pathogenic mutation in BRCA1 (c.5041insATTA (p.Thr1681IlefsX3)), and Judkins (2005) also identified the variant in trans with a pathogenic BRCA1 mutation (BRCA1 4730insG), increasing the likelihood that this variant does not have clinical importance. The variant was listed in dbSNP (ID: rs56214134) with a minor allele frequency of 0.001 (1000 Genomes Project), and in the NHLBI Exome Sequencing Project with a frequency of 0.003 in African American alleles, increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. This residue is not conserved in mammals and lower organisms and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM) do not suggest a high likelihood of impact to the protein. However, this information is not predictive enough to rule out pathogenicity. A functional study by Anczukow (2008) did not detect an effect of the variant on intron 11 splicing efficiency. In addition, two in silico studies using multifactorial likelihood ratio models suggest that this is likely a neutral variant (Lindor 2012, Osorio 2007). In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience. | Van der Merwe NC | Frontiers in genetics | 2022 | DOI: 10.3389/fgene.2022.834265 |
| High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. | Fackenthal JD | International journal of cancer | 2012 | PMID: 22034289 |
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
| Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. | Lee E | Breast cancer research : BCR | 2008 | PMID: 18284688 |
| Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information. | Osorio A | Human mutation | 2007 | PMID: 17279547 |
| 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 |
| BRCA1 variants in a family study of African-American and Latina women. | McKean-Cowdin R | Human genetics | 2005 | PMID: 15726418 |
| The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Text-mined citations for rs56214134 ...
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 Sep 01, 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.