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NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND BRCA1-related cancer predisposition

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 11, 2024
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004566890.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)]

NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
Other names:
NP_009225.1:p.Cys64Tyr; NM_007294.4(BRCA1):c.191G>A
HGVS:
  • NC_000017.11:g.43106477C>T
  • NG_005905.2:g.111507G>A
  • NM_001407581.1:c.191G>A
  • NM_001407582.1:c.191G>A
  • NM_001407583.1:c.191G>A
  • NM_001407585.1:c.191G>A
  • NM_001407587.1:c.191G>A
  • NM_001407590.1:c.191G>A
  • NM_001407591.1:c.191G>A
  • NM_001407593.1:c.191G>A
  • NM_001407594.1:c.191G>A
  • NM_001407596.1:c.191G>A
  • NM_001407597.1:c.191G>A
  • NM_001407598.1:c.191G>A
  • NM_001407602.1:c.191G>A
  • NM_001407603.1:c.191G>A
  • NM_001407605.1:c.191G>A
  • NM_001407610.1:c.191G>A
  • NM_001407611.1:c.191G>A
  • NM_001407612.1:c.191G>A
  • NM_001407613.1:c.191G>A
  • NM_001407614.1:c.191G>A
  • NM_001407615.1:c.191G>A
  • NM_001407616.1:c.191G>A
  • NM_001407617.1:c.191G>A
  • NM_001407618.1:c.191G>A
  • NM_001407619.1:c.191G>A
  • NM_001407620.1:c.191G>A
  • NM_001407621.1:c.191G>A
  • NM_001407622.1:c.191G>A
  • NM_001407623.1:c.191G>A
  • NM_001407624.1:c.191G>A
  • NM_001407625.1:c.191G>A
  • NM_001407626.1:c.191G>A
  • NM_001407627.1:c.191G>A
  • NM_001407628.1:c.191G>A
  • NM_001407629.1:c.191G>A
  • NM_001407630.1:c.191G>A
  • NM_001407631.1:c.191G>A
  • NM_001407632.1:c.191G>A
  • NM_001407633.1:c.191G>A
  • NM_001407634.1:c.191G>A
  • NM_001407635.1:c.191G>A
  • NM_001407636.1:c.191G>A
  • NM_001407637.1:c.191G>A
  • NM_001407638.1:c.191G>A
  • NM_001407639.1:c.191G>A
  • NM_001407640.1:c.191G>A
  • NM_001407641.1:c.191G>A
  • NM_001407642.1:c.191G>A
  • NM_001407644.1:c.191G>A
  • NM_001407645.1:c.191G>A
  • NM_001407646.1:c.191G>A
  • NM_001407647.1:c.191G>A
  • NM_001407648.1:c.191G>A
  • NM_001407649.1:c.191G>A
  • NM_001407652.1:c.191G>A
  • NM_001407664.1:c.191G>A
  • NM_001407665.1:c.191G>A
  • NM_001407666.1:c.191G>A
  • NM_001407667.1:c.191G>A
  • NM_001407668.1:c.191G>A
  • NM_001407669.1:c.191G>A
  • NM_001407670.1:c.191G>A
  • NM_001407671.1:c.191G>A
  • NM_001407672.1:c.191G>A
  • NM_001407673.1:c.191G>A
  • NM_001407674.1:c.191G>A
  • NM_001407675.1:c.191G>A
  • NM_001407676.1:c.191G>A
  • NM_001407677.1:c.191G>A
  • NM_001407678.1:c.191G>A
  • NM_001407679.1:c.191G>A
  • NM_001407680.1:c.191G>A
  • NM_001407681.1:c.191G>A
  • NM_001407682.1:c.191G>A
  • NM_001407683.1:c.191G>A
  • NM_001407684.1:c.191G>A
  • NM_001407685.1:c.191G>A
  • NM_001407686.1:c.191G>A
  • NM_001407687.1:c.191G>A
  • NM_001407688.1:c.191G>A
  • NM_001407689.1:c.191G>A
  • NM_001407690.1:c.191G>A
  • NM_001407691.1:c.191G>A
  • NM_001407692.1:c.50G>A
  • NM_001407694.1:c.50G>A
  • NM_001407695.1:c.50G>A
  • NM_001407696.1:c.50G>A
  • NM_001407697.1:c.50G>A
  • NM_001407698.1:c.50G>A
  • NM_001407724.1:c.50G>A
  • NM_001407725.1:c.50G>A
  • NM_001407726.1:c.50G>A
  • NM_001407727.1:c.50G>A
  • NM_001407728.1:c.50G>A
  • NM_001407729.1:c.50G>A
  • NM_001407730.1:c.50G>A
  • NM_001407731.1:c.50G>A
  • NM_001407732.1:c.50G>A
  • NM_001407733.1:c.50G>A
  • NM_001407734.1:c.50G>A
  • NM_001407735.1:c.50G>A
  • NM_001407736.1:c.50G>A
  • NM_001407737.1:c.50G>A
  • NM_001407738.1:c.50G>A
  • NM_001407739.1:c.50G>A
  • NM_001407740.1:c.50G>A
  • NM_001407741.1:c.50G>A
  • NM_001407742.1:c.50G>A
  • NM_001407743.1:c.50G>A
  • NM_001407744.1:c.50G>A
  • NM_001407745.1:c.50G>A
  • NM_001407746.1:c.50G>A
  • NM_001407747.1:c.50G>A
  • NM_001407748.1:c.50G>A
  • NM_001407749.1:c.50G>A
  • NM_001407750.1:c.50G>A
  • NM_001407751.1:c.50G>A
  • NM_001407752.1:c.50G>A
  • NM_001407838.1:c.50G>A
  • NM_001407839.1:c.50G>A
  • NM_001407841.1:c.50G>A
  • NM_001407842.1:c.50G>A
  • NM_001407843.1:c.50G>A
  • NM_001407844.1:c.50G>A
  • NM_001407845.1:c.50G>A
  • NM_001407846.1:c.50G>A
  • NM_001407847.1:c.50G>A
  • NM_001407848.1:c.50G>A
  • NM_001407849.1:c.50G>A
  • NM_001407850.1:c.50G>A
  • NM_001407851.1:c.50G>A
  • NM_001407852.1:c.50G>A
  • NM_001407854.1:c.191G>A
  • NM_001407858.1:c.191G>A
  • NM_001407859.1:c.191G>A
  • NM_001407860.1:c.191G>A
  • NM_001407861.1:c.191G>A
  • NM_001407863.1:c.191G>A
  • NM_001407919.1:c.191G>A
  • NM_001407920.1:c.50G>A
  • NM_001407921.1:c.50G>A
  • NM_001407922.1:c.50G>A
  • NM_001407923.1:c.50G>A
  • NM_001407924.1:c.50G>A
  • NM_001407925.1:c.50G>A
  • NM_001407926.1:c.50G>A
  • NM_001407927.1:c.50G>A
  • NM_001407928.1:c.50G>A
  • NM_001407929.1:c.50G>A
  • NM_001407930.1:c.50G>A
  • NM_001407931.1:c.50G>A
  • NM_001407932.1:c.50G>A
  • NM_001407933.1:c.50G>A
  • NM_001407934.1:c.50G>A
  • NM_001407935.1:c.50G>A
  • NM_001407936.1:c.50G>A
  • NM_001407937.1:c.191G>A
  • NM_001407938.1:c.191G>A
  • NM_001407939.1:c.191G>A
  • NM_001407940.1:c.191G>A
  • NM_001407941.1:c.191G>A
  • NM_001407942.1:c.50G>A
  • NM_001407943.1:c.50G>A
  • NM_001407944.1:c.50G>A
  • NM_001407945.1:c.50G>A
  • NM_001407964.1:c.50G>A
  • NM_001407968.1:c.191G>A
  • NM_001407969.1:c.191G>A
  • NM_001407970.1:c.191G>A
  • NM_001407971.1:c.191G>A
  • NM_001407972.1:c.191G>A
  • NM_001407973.1:c.191G>A
  • NM_001407974.1:c.191G>A
  • NM_001407975.1:c.191G>A
  • NM_001407976.1:c.191G>A
  • NM_001407977.1:c.191G>A
  • NM_001407978.1:c.191G>A
  • NM_001407979.1:c.191G>A
  • NM_001407980.1:c.191G>A
  • NM_001407981.1:c.191G>A
  • NM_001407982.1:c.191G>A
  • NM_001407983.1:c.191G>A
  • NM_001407984.1:c.191G>A
  • NM_001407985.1:c.191G>A
  • NM_001407986.1:c.191G>A
  • NM_001407990.1:c.191G>A
  • NM_001407991.1:c.191G>A
  • NM_001407992.1:c.191G>A
  • NM_001407993.1:c.191G>A
  • NM_001408392.1:c.191G>A
  • NM_001408396.1:c.191G>A
  • NM_001408397.1:c.191G>A
  • NM_001408398.1:c.191G>A
  • NM_001408399.1:c.191G>A
  • NM_001408400.1:c.191G>A
  • NM_001408401.1:c.191G>A
  • NM_001408402.1:c.191G>A
  • NM_001408403.1:c.191G>A
  • NM_001408404.1:c.191G>A
  • NM_001408406.1:c.191G>A
  • NM_001408407.1:c.191G>A
  • NM_001408408.1:c.191G>A
  • NM_001408410.1:c.50G>A
  • NM_001408418.1:c.191G>A
  • NM_001408419.1:c.191G>A
  • NM_001408420.1:c.191G>A
  • NM_001408421.1:c.191G>A
  • NM_001408422.1:c.191G>A
  • NM_001408423.1:c.191G>A
  • NM_001408424.1:c.191G>A
  • NM_001408425.1:c.191G>A
  • NM_001408426.1:c.191G>A
  • NM_001408427.1:c.191G>A
  • NM_001408428.1:c.191G>A
  • NM_001408429.1:c.191G>A
  • NM_001408430.1:c.191G>A
  • NM_001408431.1:c.191G>A
  • NM_001408432.1:c.191G>A
  • NM_001408433.1:c.191G>A
  • NM_001408434.1:c.191G>A
  • NM_001408435.1:c.191G>A
  • NM_001408436.1:c.191G>A
  • NM_001408437.1:c.191G>A
  • NM_001408438.1:c.191G>A
  • NM_001408439.1:c.191G>A
  • NM_001408440.1:c.191G>A
  • NM_001408441.1:c.191G>A
  • NM_001408442.1:c.191G>A
  • NM_001408443.1:c.191G>A
  • NM_001408444.1:c.191G>A
  • NM_001408445.1:c.191G>A
  • NM_001408446.1:c.191G>A
  • NM_001408447.1:c.191G>A
  • NM_001408448.1:c.191G>A
  • NM_001408450.1:c.191G>A
  • NM_001408452.1:c.50G>A
  • NM_001408453.1:c.50G>A
  • NM_001408454.1:c.50G>A
  • NM_001408455.1:c.50G>A
  • NM_001408456.1:c.50G>A
  • NM_001408457.1:c.50G>A
  • NM_001408458.1:c.50G>A
  • NM_001408459.1:c.50G>A
  • NM_001408460.1:c.50G>A
  • NM_001408461.1:c.50G>A
  • NM_001408462.1:c.50G>A
  • NM_001408463.1:c.50G>A
  • NM_001408464.1:c.50G>A
  • NM_001408465.1:c.50G>A
  • NM_001408466.1:c.50G>A
  • NM_001408467.1:c.50G>A
  • NM_001408468.1:c.50G>A
  • NM_001408469.1:c.50G>A
  • NM_001408470.1:c.50G>A
  • NM_001408472.1:c.191G>A
  • NM_001408473.1:c.191G>A
  • NM_001408494.1:c.191G>A
  • NM_001408495.1:c.191G>A
  • NM_001408496.1:c.50G>A
  • NM_001408497.1:c.50G>A
  • NM_001408498.1:c.50G>A
  • NM_001408499.1:c.50G>A
  • NM_001408500.1:c.50G>A
  • NM_001408501.1:c.50G>A
  • NM_001408503.1:c.50G>A
  • NM_001408504.1:c.50G>A
  • NM_001408505.1:c.50G>A
  • NM_001408511.1:c.50G>A
  • NM_007294.4:c.191G>AMANE SELECT
  • NM_007297.4:c.50G>A
  • NM_007298.4:c.191G>A
  • NM_007299.4:c.191G>A
  • NM_007300.4:c.191G>A
  • NM_007304.2:c.191G>A
  • NP_001394510.1:p.Cys64Tyr
  • NP_001394511.1:p.Cys64Tyr
  • NP_001394512.1:p.Cys64Tyr
  • NP_001394514.1:p.Cys64Tyr
  • NP_001394516.1:p.Cys64Tyr
  • NP_001394519.1:p.Cys64Tyr
  • NP_001394520.1:p.Cys64Tyr
  • NP_001394522.1:p.Cys64Tyr
  • NP_001394523.1:p.Cys64Tyr
  • NP_001394525.1:p.Cys64Tyr
  • NP_001394526.1:p.Cys64Tyr
  • NP_001394527.1:p.Cys64Tyr
  • NP_001394531.1:p.Cys64Tyr
  • NP_001394532.1:p.Cys64Tyr
  • NP_001394534.1:p.Cys64Tyr
  • NP_001394539.1:p.Cys64Tyr
  • NP_001394540.1:p.Cys64Tyr
  • NP_001394541.1:p.Cys64Tyr
  • NP_001394542.1:p.Cys64Tyr
  • NP_001394543.1:p.Cys64Tyr
  • NP_001394544.1:p.Cys64Tyr
  • NP_001394545.1:p.Cys64Tyr
  • NP_001394546.1:p.Cys64Tyr
  • NP_001394547.1:p.Cys64Tyr
  • NP_001394548.1:p.Cys64Tyr
  • NP_001394549.1:p.Cys64Tyr
  • NP_001394550.1:p.Cys64Tyr
  • NP_001394551.1:p.Cys64Tyr
  • NP_001394552.1:p.Cys64Tyr
  • NP_001394553.1:p.Cys64Tyr
  • NP_001394554.1:p.Cys64Tyr
  • NP_001394555.1:p.Cys64Tyr
  • NP_001394556.1:p.Cys64Tyr
  • NP_001394557.1:p.Cys64Tyr
  • NP_001394558.1:p.Cys64Tyr
  • NP_001394559.1:p.Cys64Tyr
  • NP_001394560.1:p.Cys64Tyr
  • NP_001394561.1:p.Cys64Tyr
  • NP_001394562.1:p.Cys64Tyr
  • NP_001394563.1:p.Cys64Tyr
  • NP_001394564.1:p.Cys64Tyr
  • NP_001394565.1:p.Cys64Tyr
  • NP_001394566.1:p.Cys64Tyr
  • NP_001394567.1:p.Cys64Tyr
  • NP_001394568.1:p.Cys64Tyr
  • NP_001394569.1:p.Cys64Tyr
  • NP_001394570.1:p.Cys64Tyr
  • NP_001394571.1:p.Cys64Tyr
  • NP_001394573.1:p.Cys64Tyr
  • NP_001394574.1:p.Cys64Tyr
  • NP_001394575.1:p.Cys64Tyr
  • NP_001394576.1:p.Cys64Tyr
  • NP_001394577.1:p.Cys64Tyr
  • NP_001394578.1:p.Cys64Tyr
  • NP_001394581.1:p.Cys64Tyr
  • NP_001394593.1:p.Cys64Tyr
  • NP_001394594.1:p.Cys64Tyr
  • NP_001394595.1:p.Cys64Tyr
  • NP_001394596.1:p.Cys64Tyr
  • NP_001394597.1:p.Cys64Tyr
  • NP_001394598.1:p.Cys64Tyr
  • NP_001394599.1:p.Cys64Tyr
  • NP_001394600.1:p.Cys64Tyr
  • NP_001394601.1:p.Cys64Tyr
  • NP_001394602.1:p.Cys64Tyr
  • NP_001394603.1:p.Cys64Tyr
  • NP_001394604.1:p.Cys64Tyr
  • NP_001394605.1:p.Cys64Tyr
  • NP_001394606.1:p.Cys64Tyr
  • NP_001394607.1:p.Cys64Tyr
  • NP_001394608.1:p.Cys64Tyr
  • NP_001394609.1:p.Cys64Tyr
  • NP_001394610.1:p.Cys64Tyr
  • NP_001394611.1:p.Cys64Tyr
  • NP_001394612.1:p.Cys64Tyr
  • NP_001394613.1:p.Cys64Tyr
  • NP_001394614.1:p.Cys64Tyr
  • NP_001394615.1:p.Cys64Tyr
  • NP_001394616.1:p.Cys64Tyr
  • NP_001394617.1:p.Cys64Tyr
  • NP_001394618.1:p.Cys64Tyr
  • NP_001394619.1:p.Cys64Tyr
  • NP_001394620.1:p.Cys64Tyr
  • NP_001394621.1:p.Cys17Tyr
  • NP_001394623.1:p.Cys17Tyr
  • NP_001394624.1:p.Cys17Tyr
  • NP_001394625.1:p.Cys17Tyr
  • NP_001394626.1:p.Cys17Tyr
  • NP_001394627.1:p.Cys17Tyr
  • NP_001394653.1:p.Cys17Tyr
  • NP_001394654.1:p.Cys17Tyr
  • NP_001394655.1:p.Cys17Tyr
  • NP_001394656.1:p.Cys17Tyr
  • NP_001394657.1:p.Cys17Tyr
  • NP_001394658.1:p.Cys17Tyr
  • NP_001394659.1:p.Cys17Tyr
  • NP_001394660.1:p.Cys17Tyr
  • NP_001394661.1:p.Cys17Tyr
  • NP_001394662.1:p.Cys17Tyr
  • NP_001394663.1:p.Cys17Tyr
  • NP_001394664.1:p.Cys17Tyr
  • NP_001394665.1:p.Cys17Tyr
  • NP_001394666.1:p.Cys17Tyr
  • NP_001394667.1:p.Cys17Tyr
  • NP_001394668.1:p.Cys17Tyr
  • NP_001394669.1:p.Cys17Tyr
  • NP_001394670.1:p.Cys17Tyr
  • NP_001394671.1:p.Cys17Tyr
  • NP_001394672.1:p.Cys17Tyr
  • NP_001394673.1:p.Cys17Tyr
  • NP_001394674.1:p.Cys17Tyr
  • NP_001394675.1:p.Cys17Tyr
  • NP_001394676.1:p.Cys17Tyr
  • NP_001394677.1:p.Cys17Tyr
  • NP_001394678.1:p.Cys17Tyr
  • NP_001394679.1:p.Cys17Tyr
  • NP_001394680.1:p.Cys17Tyr
  • NP_001394681.1:p.Cys17Tyr
  • NP_001394767.1:p.Cys17Tyr
  • NP_001394768.1:p.Cys17Tyr
  • NP_001394770.1:p.Cys17Tyr
  • NP_001394771.1:p.Cys17Tyr
  • NP_001394772.1:p.Cys17Tyr
  • NP_001394773.1:p.Cys17Tyr
  • NP_001394774.1:p.Cys17Tyr
  • NP_001394775.1:p.Cys17Tyr
  • NP_001394776.1:p.Cys17Tyr
  • NP_001394777.1:p.Cys17Tyr
  • NP_001394778.1:p.Cys17Tyr
  • NP_001394779.1:p.Cys17Tyr
  • NP_001394780.1:p.Cys17Tyr
  • NP_001394781.1:p.Cys17Tyr
  • NP_001394783.1:p.Cys64Tyr
  • NP_001394787.1:p.Cys64Tyr
  • NP_001394788.1:p.Cys64Tyr
  • NP_001394789.1:p.Cys64Tyr
  • NP_001394790.1:p.Cys64Tyr
  • NP_001394792.1:p.Cys64Tyr
  • NP_001394848.1:p.Cys64Tyr
  • NP_001394849.1:p.Cys17Tyr
  • NP_001394850.1:p.Cys17Tyr
  • NP_001394851.1:p.Cys17Tyr
  • NP_001394852.1:p.Cys17Tyr
  • NP_001394853.1:p.Cys17Tyr
  • NP_001394854.1:p.Cys17Tyr
  • NP_001394855.1:p.Cys17Tyr
  • NP_001394856.1:p.Cys17Tyr
  • NP_001394857.1:p.Cys17Tyr
  • NP_001394858.1:p.Cys17Tyr
  • NP_001394859.1:p.Cys17Tyr
  • NP_001394860.1:p.Cys17Tyr
  • NP_001394861.1:p.Cys17Tyr
  • NP_001394862.1:p.Cys17Tyr
  • NP_001394863.1:p.Cys17Tyr
  • NP_001394864.1:p.Cys17Tyr
  • NP_001394865.1:p.Cys17Tyr
  • NP_001394866.1:p.Cys64Tyr
  • NP_001394867.1:p.Cys64Tyr
  • NP_001394868.1:p.Cys64Tyr
  • NP_001394869.1:p.Cys64Tyr
  • NP_001394870.1:p.Cys64Tyr
  • NP_001394871.1:p.Cys17Tyr
  • NP_001394872.1:p.Cys17Tyr
  • NP_001394873.1:p.Cys17Tyr
  • NP_001394874.1:p.Cys17Tyr
  • NP_001394893.1:p.Cys17Tyr
  • NP_001394897.1:p.Cys64Tyr
  • NP_001394898.1:p.Cys64Tyr
  • NP_001394899.1:p.Cys64Tyr
  • NP_001394900.1:p.Cys64Tyr
  • NP_001394901.1:p.Cys64Tyr
  • NP_001394902.1:p.Cys64Tyr
  • NP_001394903.1:p.Cys64Tyr
  • NP_001394904.1:p.Cys64Tyr
  • NP_001394905.1:p.Cys64Tyr
  • NP_001394906.1:p.Cys64Tyr
  • NP_001394907.1:p.Cys64Tyr
  • NP_001394908.1:p.Cys64Tyr
  • NP_001394909.1:p.Cys64Tyr
  • NP_001394910.1:p.Cys64Tyr
  • NP_001394911.1:p.Cys64Tyr
  • NP_001394912.1:p.Cys64Tyr
  • NP_001394913.1:p.Cys64Tyr
  • NP_001394914.1:p.Cys64Tyr
  • NP_001394915.1:p.Cys64Tyr
  • NP_001394919.1:p.Cys64Tyr
  • NP_001394920.1:p.Cys64Tyr
  • NP_001394921.1:p.Cys64Tyr
  • NP_001394922.1:p.Cys64Tyr
  • NP_001395321.1:p.Cys64Tyr
  • NP_001395325.1:p.Cys64Tyr
  • NP_001395326.1:p.Cys64Tyr
  • NP_001395327.1:p.Cys64Tyr
  • NP_001395328.1:p.Cys64Tyr
  • NP_001395329.1:p.Cys64Tyr
  • NP_001395330.1:p.Cys64Tyr
  • NP_001395331.1:p.Cys64Tyr
  • NP_001395332.1:p.Cys64Tyr
  • NP_001395333.1:p.Cys64Tyr
  • NP_001395335.1:p.Cys64Tyr
  • NP_001395336.1:p.Cys64Tyr
  • NP_001395337.1:p.Cys64Tyr
  • NP_001395339.1:p.Cys17Tyr
  • NP_001395347.1:p.Cys64Tyr
  • NP_001395348.1:p.Cys64Tyr
  • NP_001395349.1:p.Cys64Tyr
  • NP_001395350.1:p.Cys64Tyr
  • NP_001395351.1:p.Cys64Tyr
  • NP_001395352.1:p.Cys64Tyr
  • NP_001395353.1:p.Cys64Tyr
  • NP_001395354.1:p.Cys64Tyr
  • NP_001395355.1:p.Cys64Tyr
  • NP_001395356.1:p.Cys64Tyr
  • NP_001395357.1:p.Cys64Tyr
  • NP_001395358.1:p.Cys64Tyr
  • NP_001395359.1:p.Cys64Tyr
  • NP_001395360.1:p.Cys64Tyr
  • NP_001395361.1:p.Cys64Tyr
  • NP_001395362.1:p.Cys64Tyr
  • NP_001395363.1:p.Cys64Tyr
  • NP_001395364.1:p.Cys64Tyr
  • NP_001395365.1:p.Cys64Tyr
  • NP_001395366.1:p.Cys64Tyr
  • NP_001395367.1:p.Cys64Tyr
  • NP_001395368.1:p.Cys64Tyr
  • NP_001395369.1:p.Cys64Tyr
  • NP_001395370.1:p.Cys64Tyr
  • NP_001395371.1:p.Cys64Tyr
  • NP_001395372.1:p.Cys64Tyr
  • NP_001395373.1:p.Cys64Tyr
  • NP_001395374.1:p.Cys64Tyr
  • NP_001395375.1:p.Cys64Tyr
  • NP_001395376.1:p.Cys64Tyr
  • NP_001395377.1:p.Cys64Tyr
  • NP_001395379.1:p.Cys64Tyr
  • NP_001395381.1:p.Cys17Tyr
  • NP_001395382.1:p.Cys17Tyr
  • NP_001395383.1:p.Cys17Tyr
  • NP_001395384.1:p.Cys17Tyr
  • NP_001395385.1:p.Cys17Tyr
  • NP_001395386.1:p.Cys17Tyr
  • NP_001395387.1:p.Cys17Tyr
  • NP_001395388.1:p.Cys17Tyr
  • NP_001395389.1:p.Cys17Tyr
  • NP_001395390.1:p.Cys17Tyr
  • NP_001395391.1:p.Cys17Tyr
  • NP_001395392.1:p.Cys17Tyr
  • NP_001395393.1:p.Cys17Tyr
  • NP_001395394.1:p.Cys17Tyr
  • NP_001395395.1:p.Cys17Tyr
  • NP_001395396.1:p.Cys17Tyr
  • NP_001395397.1:p.Cys17Tyr
  • NP_001395398.1:p.Cys17Tyr
  • NP_001395399.1:p.Cys17Tyr
  • NP_001395401.1:p.Cys64Tyr
  • NP_001395402.1:p.Cys64Tyr
  • NP_001395423.1:p.Cys64Tyr
  • NP_001395424.1:p.Cys64Tyr
  • NP_001395425.1:p.Cys17Tyr
  • NP_001395426.1:p.Cys17Tyr
  • NP_001395427.1:p.Cys17Tyr
  • NP_001395428.1:p.Cys17Tyr
  • NP_001395429.1:p.Cys17Tyr
  • NP_001395430.1:p.Cys17Tyr
  • NP_001395432.1:p.Cys17Tyr
  • NP_001395433.1:p.Cys17Tyr
  • NP_001395434.1:p.Cys17Tyr
  • NP_001395440.1:p.Cys17Tyr
  • NP_009225.1:p.Cys64Tyr
  • NP_009225.1:p.Cys64Tyr
  • NP_009228.2:p.Cys17Tyr
  • NP_009229.2:p.Cys64Tyr
  • NP_009229.2:p.Cys64Tyr
  • NP_009230.2:p.Cys64Tyr
  • NP_009231.2:p.Cys64Tyr
  • NP_009235.2:p.Cys64Tyr
  • LRG_292t1:c.191G>A
  • LRG_292:g.111507G>A
  • LRG_292p1:p.Cys64Tyr
  • NC_000017.10:g.41258494C>T
  • NM_007294.3:c.191G>A
  • NM_007298.3:c.191G>A
  • NM_007300.3:c.191G>A
  • P38398:p.Cys64Tyr
  • U14680.1:n.310G>A
  • p.C64Y
Nucleotide change:
310G>A
Protein change:
C17Y
Links:
UniProtKB: P38398#VAR_007759; dbSNP: rs55851803
Molecular consequence:
  • NM_001407581.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
BRCA1-related cancer predisposition
Identifiers:
MONDO: MONDO:0700268; MedGen: CN377757

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004101417ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(CSpec BRCA1/2ACMG Rules Specifications V1.0)		Pathogenic
(Jun 11, 2024) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen, SCV004101417.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The c.191G>A variant in BRCA1 is a missense variant predicted to cause substitution of Cysteine by Tyrosine at amino acid 64 (p.Cys64Tyr). This variant is absent from gnomAD v2.1 (exomes only, non-cancer subset, read depth >=25) and gnomAD v3.1 (non-cancer subset, read depth >=25) (PM2_Supporting met). This BRCA1 missense variant is within a key functional domain and the computational predictor BayesDel (noAF) gives a score of 0.557, above the recommended threshold of 0.28 for prediction of impact on BRCA1 function via protein change. SpliceAI predictor score of 0.00 suggests that the variant has no impact on splicing (score threshold <0.10) (PP3 met). Reported by one calibrated study to exhibit protein function similar to pathogenic control variants (PMID: 30209399) (PS3 met). Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 17239845573264 (based on Cosegregation LR=5300394; Pathology LR=189; Family History LR=17201), above the threshold for Very strong evidence towards pathogenicity (>350) (PP4_Very strong met; PMID: 31131967, 31853058). In summary, this variant meets the criteria to be classified as a Pathogenic variant for BRCA1-related cancer predisposition based on the ACMG/AMP criteria applied as specified by the ENIGMA BRCA1/2 VCEP (PM2_Supporting, PP3, PS3, PP4_Very strong).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 20, 2026

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