NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (11 submissions)
Last evaluated:: Aug 28, 2025
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000077501.36

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]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; BRCA1 Hereditary Breast and Ovarian Cancer
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109301	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (May 28, 2013)	germline	clinical testing
SCV000144599	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000325182	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000677635	Counsyl	no assertion criteria provided	Likely pathogenic (Nov 17, 2016)	unknown	clinical testing	PubMed (11) [See all records that cite these PMIDs] 23192404, 11320250, 22034289, 15235020, 27272900, 11106241, 25823446, 15131401, 22923021, 22505045, 25085752
SCV000733678	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001242528	Brotman Baty Institute, University of Washington	no classification provided		not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001439390	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 28, 2020)	paternal	research	PubMed (1) [See all records that cite this PMID]
SCV001499630	Department of Molecular Diagnostics, Institute of Oncology Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 2, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003927164	KCCC/NGS Laboratory, Kuwait Cancer Control Center	no assertion criteria provided	Pathogenic (May 5, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004212774	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 14, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV006276757	Molecular Pathology, Peter Maccallum Cancer Centre See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 13, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV007599555	Dasa	criteria provided, single submitter (DASA Assertion Criteria)	Pathogenic (Aug 28, 2025)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	10	not provided	not provided	10	not provided	clinical testing
not provided	germline	yes	10	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	52	not provided	not provided	not provided	clinical testing
not provided	paternal	unknown	1	not provided	not provided	1	not provided	research
African	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
African, Native American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	6	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.

Rummel S, Varner E, Shriver CD, Ellsworth RE.

Breast Cancer Res Treat. 2013 Jan;137(1):119-25. doi: 10.1007/s10549-012-2348-2. Epub 2012 Nov 29.

PubMed [citation]

PMID:: 23192404

Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity.

Ruffner H, Joazeiro CA, Hemmati D, Hunter T, Verma IM.

Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5134-9.

PubMed [citation]

PMID:: 11320250
PMCID:: PMC33176

See all PubMed Citations (14)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109301.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	10	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144599.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	African	2	not provided	not provided	clinical testing	not provided
4	African, Native American	1	not provided	not provided	clinical testing	not provided
5	Central/Eastern European	1	not provided	not provided	clinical testing	not provided
6	Western European	6	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		9	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		6	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325182.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	52	not provided

From Counsyl, SCV000677635.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733678.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Brotman Baty Institute, University of Washington, SCV001242528.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

Description

"not provided" was previously submitted as the classification for the variant. However, the classification appeared to be based only on an observation of functional data so it was converted to no classification on 2025-07-30.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001439390.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

ACMG codes:PS3; PS4; PM2; PP3; PP5

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	unknown	1	not provided	not provided		1	not provided	not provided	not provided

From Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499630.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003927164.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The pathogenic BRCA1 Cys64Tyr was detected in this specimen. This sequence change replaces cysteine with tyrosine at codon 64 of the BRCA1 protein (p.Cys64Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with hereditary breast and ovarian cancer in two families (PMID: 15131401), and has been observed in numerous individuals with breast and/or ovarian cancer (PMID: 22034289, 23397983, 18489799, 19949876, 25085752). ClinVar contains an entry for this variant (Variation ID: 54400). Experimental studies have shown that this missense change abolishes E3 ubiquitin ligase activity (PMID: 11320250). This missense change is located at a functionally conserved residue within the RING domain of the BRCA1 protein (PMID: 8944023, 11526114), and a significant number of previously reported BRCA1 missense mutations have been found at this residue (PMID: 7894491, 19287957, 24516540, 23161852). Based on multifactorial likelihood algorithms using individuals' personal and family history of cancer, this variant has been determined to have a high probability of being pathogenic (PMID: 25085752, 18418466). Therefore, this variant has been classified as Pathogenic .

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004212774.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Molecular Pathology, Peter Maccallum Cancer Centre, SCV006276757.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Dasa, SCV007599555.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) is a missense variant that results in the substitution of cysteine with tyrosine. Functional evidence supports a deleterious effect on the gene or gene product (PMID: 30209399). This variant has been reported in individuals with Breast-ovarian cancer, familial, susceptibility to, 1 (PMID: 30209399). Multiple computational predictions support a deleterious effect on the gene or gene product. The variant is present at low frequency in population datasets. Based on the available data, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 20, 2026

Relating variation to medicine