NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Aug 5, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000165814.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)]

NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)

HGVS:

NC_000017.11:g.43091773G>C
NG_005905.2:g.126211C>G
NG_087068.1:g.755G>C
NM_001407571.1:c.3545C>G
NM_001407581.1:c.3758C>G
NM_001407582.1:c.3758C>G
NM_001407583.1:c.3758C>G
NM_001407585.1:c.3758C>G
NM_001407587.1:c.3755C>G
NM_001407590.1:c.3755C>G
NM_001407591.1:c.3755C>G
NM_001407593.1:c.3758C>G
NM_001407594.1:c.3758C>G
NM_001407596.1:c.3758C>G
NM_001407597.1:c.3758C>G
NM_001407598.1:c.3758C>G
NM_001407602.1:c.3758C>G
NM_001407603.1:c.3758C>G
NM_001407605.1:c.3758C>G
NM_001407610.1:c.3755C>G
NM_001407611.1:c.3755C>G
NM_001407612.1:c.3755C>G
NM_001407613.1:c.3755C>G
NM_001407614.1:c.3755C>G
NM_001407615.1:c.3755C>G
NM_001407616.1:c.3758C>G
NM_001407617.1:c.3758C>G
NM_001407618.1:c.3758C>G
NM_001407619.1:c.3758C>G
NM_001407620.1:c.3758C>G
NM_001407621.1:c.3758C>G
NM_001407622.1:c.3758C>G
NM_001407623.1:c.3758C>G
NM_001407624.1:c.3758C>G
NM_001407625.1:c.3758C>G
NM_001407626.1:c.3758C>G
NM_001407627.1:c.3755C>G
NM_001407628.1:c.3755C>G
NM_001407629.1:c.3755C>G
NM_001407630.1:c.3755C>G
NM_001407631.1:c.3755C>G
NM_001407632.1:c.3755C>G
NM_001407633.1:c.3755C>G
NM_001407634.1:c.3755C>G
NM_001407635.1:c.3755C>G
NM_001407636.1:c.3755C>G
NM_001407637.1:c.3755C>G
NM_001407638.1:c.3755C>G
NM_001407639.1:c.3758C>G
NM_001407640.1:c.3758C>G
NM_001407641.1:c.3758C>G
NM_001407642.1:c.3758C>G
NM_001407644.1:c.3755C>G
NM_001407645.1:c.3755C>G
NM_001407646.1:c.3749C>G
NM_001407647.1:c.3749C>G
NM_001407648.1:c.3635C>G
NM_001407649.1:c.3632C>G
NM_001407652.1:c.3758C>G
NM_001407653.1:c.3680C>G
NM_001407654.1:c.3680C>G
NM_001407655.1:c.3680C>G
NM_001407656.1:c.3680C>G
NM_001407657.1:c.3680C>G
NM_001407658.1:c.3680C>G
NM_001407659.1:c.3677C>G
NM_001407660.1:c.3677C>G
NM_001407661.1:c.3677C>G
NM_001407662.1:c.3677C>G
NM_001407663.1:c.3680C>G
NM_001407664.1:c.3635C>G
NM_001407665.1:c.3635C>G
NM_001407666.1:c.3635C>G
NM_001407667.1:c.3635C>G
NM_001407668.1:c.3635C>G
NM_001407669.1:c.3635C>G
NM_001407670.1:c.3632C>G
NM_001407671.1:c.3632C>G
NM_001407672.1:c.3632C>G
NM_001407673.1:c.3632C>G
NM_001407674.1:c.3635C>G
NM_001407675.1:c.3635C>G
NM_001407676.1:c.3635C>G
NM_001407677.1:c.3635C>G
NM_001407678.1:c.3635C>G
NM_001407679.1:c.3635C>G
NM_001407680.1:c.3635C>G
NM_001407681.1:c.3635C>G
NM_001407682.1:c.3635C>G
NM_001407683.1:c.3635C>G
NM_001407684.1:c.3758C>G
NM_001407685.1:c.3632C>G
NM_001407686.1:c.3632C>G
NM_001407687.1:c.3632C>G
NM_001407688.1:c.3632C>G
NM_001407689.1:c.3632C>G
NM_001407690.1:c.3632C>G
NM_001407691.1:c.3632C>G
NM_001407692.1:c.3617C>G
NM_001407694.1:c.3617C>G
NM_001407695.1:c.3617C>G
NM_001407696.1:c.3617C>G
NM_001407697.1:c.3617C>G
NM_001407698.1:c.3617C>G
NM_001407724.1:c.3617C>G
NM_001407725.1:c.3617C>G
NM_001407726.1:c.3617C>G
NM_001407727.1:c.3617C>G
NM_001407728.1:c.3617C>G
NM_001407729.1:c.3617C>G
NM_001407730.1:c.3617C>G
NM_001407731.1:c.3617C>G
NM_001407732.1:c.3617C>G
NM_001407733.1:c.3617C>G
NM_001407734.1:c.3617C>G
NM_001407735.1:c.3617C>G
NM_001407736.1:c.3617C>G
NM_001407737.1:c.3617C>G
NM_001407738.1:c.3617C>G
NM_001407739.1:c.3617C>G
NM_001407740.1:c.3614C>G
NM_001407741.1:c.3614C>G
NM_001407742.1:c.3614C>G
NM_001407743.1:c.3614C>G
NM_001407744.1:c.3614C>G
NM_001407745.1:c.3614C>G
NM_001407746.1:c.3614C>G
NM_001407747.1:c.3614C>G
NM_001407748.1:c.3614C>G
NM_001407749.1:c.3614C>G
NM_001407750.1:c.3617C>G
NM_001407751.1:c.3617C>G
NM_001407752.1:c.3617C>G
NM_001407838.1:c.3614C>G
NM_001407839.1:c.3614C>G
NM_001407841.1:c.3614C>G
NM_001407842.1:c.3614C>G
NM_001407843.1:c.3614C>G
NM_001407844.1:c.3614C>G
NM_001407845.1:c.3614C>G
NM_001407846.1:c.3614C>G
NM_001407847.1:c.3614C>G
NM_001407848.1:c.3614C>G
NM_001407849.1:c.3614C>G
NM_001407850.1:c.3617C>G
NM_001407851.1:c.3617C>G
NM_001407852.1:c.3617C>G
NM_001407853.1:c.3545C>G
NM_001407854.1:c.3758C>G
NM_001407858.1:c.3758C>G
NM_001407859.1:c.3758C>G
NM_001407860.1:c.3755C>G
NM_001407861.1:c.3755C>G
NM_001407862.1:c.3557C>G
NM_001407863.1:c.3635C>G
NM_001407874.1:c.3554C>G
NM_001407875.1:c.3554C>G
NM_001407879.1:c.3548C>G
NM_001407881.1:c.3548C>G
NM_001407882.1:c.3548C>G
NM_001407884.1:c.3548C>G
NM_001407885.1:c.3548C>G
NM_001407886.1:c.3548C>G
NM_001407887.1:c.3548C>G
NM_001407889.1:c.3548C>G
NM_001407894.1:c.3545C>G
NM_001407895.1:c.3545C>G
NM_001407896.1:c.3545C>G
NM_001407897.1:c.3545C>G
NM_001407898.1:c.3545C>G
NM_001407899.1:c.3545C>G
NM_001407900.1:c.3548C>G
NM_001407902.1:c.3548C>G
NM_001407904.1:c.3548C>G
NM_001407906.1:c.3548C>G
NM_001407907.1:c.3548C>G
NM_001407908.1:c.3548C>G
NM_001407909.1:c.3548C>G
NM_001407910.1:c.3548C>G
NM_001407915.1:c.3545C>G
NM_001407916.1:c.3545C>G
NM_001407917.1:c.3545C>G
NM_001407918.1:c.3545C>G
NM_001407919.1:c.3635C>G
NM_001407920.1:c.3494C>G
NM_001407921.1:c.3494C>G
NM_001407922.1:c.3494C>G
NM_001407923.1:c.3494C>G
NM_001407924.1:c.3494C>G
NM_001407925.1:c.3494C>G
NM_001407926.1:c.3494C>G
NM_001407927.1:c.3494C>G
NM_001407928.1:c.3494C>G
NM_001407929.1:c.3494C>G
NM_001407930.1:c.3491C>G
NM_001407931.1:c.3491C>G
NM_001407932.1:c.3491C>G
NM_001407933.1:c.3494C>G
NM_001407934.1:c.3491C>G
NM_001407935.1:c.3494C>G
NM_001407936.1:c.3491C>G
NM_001407937.1:c.3635C>G
NM_001407938.1:c.3635C>G
NM_001407939.1:c.3635C>G
NM_001407940.1:c.3632C>G
NM_001407941.1:c.3632C>G
NM_001407942.1:c.3617C>G
NM_001407943.1:c.3614C>G
NM_001407944.1:c.3617C>G
NM_001407945.1:c.3617C>G
NM_001407946.1:c.3425C>G
NM_001407947.1:c.3425C>G
NM_001407948.1:c.3425C>G
NM_001407949.1:c.3425C>G
NM_001407950.1:c.3425C>G
NM_001407951.1:c.3425C>G
NM_001407952.1:c.3425C>G
NM_001407953.1:c.3425C>G
NM_001407954.1:c.3422C>G
NM_001407955.1:c.3422C>G
NM_001407956.1:c.3422C>G
NM_001407957.1:c.3425C>G
NM_001407958.1:c.3422C>G
NM_001407959.1:c.3377C>G
NM_001407960.1:c.3377C>G
NM_001407962.1:c.3374C>G
NM_001407963.1:c.3377C>G
NM_001407964.1:c.3614C>G
NM_001407965.1:c.3254C>G
NM_001407966.1:c.2870C>G
NM_001407967.1:c.2870C>G
NM_001407968.1:c.1154C>G
NM_001407969.1:c.1154C>G
NM_001407970.1:c.788-741C>G
NM_001407971.1:c.788-741C>G
NM_001407972.1:c.785-741C>G
NM_001407973.1:c.788-741C>G
NM_001407974.1:c.788-741C>G
NM_001407975.1:c.788-741C>G
NM_001407976.1:c.788-741C>G
NM_001407977.1:c.788-741C>G
NM_001407978.1:c.788-741C>G
NM_001407979.1:c.788-741C>G
NM_001407980.1:c.788-741C>G
NM_001407981.1:c.788-741C>G
NM_001407982.1:c.788-741C>G
NM_001407983.1:c.788-741C>G
NM_001407984.1:c.785-741C>G
NM_001407985.1:c.785-741C>G
NM_001407986.1:c.785-741C>G
NM_001407990.1:c.788-741C>G
NM_001407991.1:c.785-741C>G
NM_001407992.1:c.785-741C>G
NM_001407993.1:c.788-741C>G
NM_001408392.1:c.785-741C>G
NM_001408396.1:c.785-741C>G
NM_001408397.1:c.785-741C>G
NM_001408398.1:c.785-741C>G
NM_001408399.1:c.785-741C>G
NM_001408400.1:c.785-741C>G
NM_001408401.1:c.785-741C>G
NM_001408402.1:c.785-741C>G
NM_001408403.1:c.788-741C>G
NM_001408404.1:c.788-741C>G
NM_001408406.1:c.791-750C>G
NM_001408407.1:c.785-741C>G
NM_001408408.1:c.779-741C>G
NM_001408409.1:c.710-741C>G
NM_001408410.1:c.647-741C>G
NM_001408411.1:c.710-741C>G
NM_001408412.1:c.710-741C>G
NM_001408413.1:c.707-741C>G
NM_001408414.1:c.710-741C>G
NM_001408415.1:c.710-741C>G
NM_001408416.1:c.707-741C>G
NM_001408418.1:c.671-741C>G
NM_001408419.1:c.671-741C>G
NM_001408420.1:c.671-741C>G
NM_001408421.1:c.668-741C>G
NM_001408422.1:c.671-741C>G
NM_001408423.1:c.671-741C>G
NM_001408424.1:c.668-741C>G
NM_001408425.1:c.665-741C>G
NM_001408426.1:c.665-741C>G
NM_001408427.1:c.665-741C>G
NM_001408428.1:c.665-741C>G
NM_001408429.1:c.665-741C>G
NM_001408430.1:c.665-741C>G
NM_001408431.1:c.668-741C>G
NM_001408432.1:c.662-741C>G
NM_001408433.1:c.662-741C>G
NM_001408434.1:c.662-741C>G
NM_001408435.1:c.662-741C>G
NM_001408436.1:c.665-741C>G
NM_001408437.1:c.665-741C>G
NM_001408438.1:c.665-741C>G
NM_001408439.1:c.665-741C>G
NM_001408440.1:c.665-741C>G
NM_001408441.1:c.665-741C>G
NM_001408442.1:c.665-741C>G
NM_001408443.1:c.665-741C>G
NM_001408444.1:c.665-741C>G
NM_001408445.1:c.662-741C>G
NM_001408446.1:c.662-741C>G
NM_001408447.1:c.662-741C>G
NM_001408448.1:c.662-741C>G
NM_001408450.1:c.662-741C>G
NM_001408451.1:c.653-741C>G
NM_001408452.1:c.647-741C>G
NM_001408453.1:c.647-741C>G
NM_001408454.1:c.647-741C>G
NM_001408455.1:c.647-741C>G
NM_001408456.1:c.647-741C>G
NM_001408457.1:c.647-741C>G
NM_001408458.1:c.647-741C>G
NM_001408459.1:c.647-741C>G
NM_001408460.1:c.647-741C>G
NM_001408461.1:c.647-741C>G
NM_001408462.1:c.644-741C>G
NM_001408463.1:c.644-741C>G
NM_001408464.1:c.644-741C>G
NM_001408465.1:c.644-741C>G
NM_001408466.1:c.647-741C>G
NM_001408467.1:c.647-741C>G
NM_001408468.1:c.644-741C>G
NM_001408469.1:c.647-741C>G
NM_001408470.1:c.644-741C>G
NM_001408472.1:c.788-741C>G
NM_001408473.1:c.785-741C>G
NM_001408474.1:c.587-741C>G
NM_001408475.1:c.584-741C>G
NM_001408476.1:c.587-741C>G
NM_001408478.1:c.578-741C>G
NM_001408479.1:c.578-741C>G
NM_001408480.1:c.578-741C>G
NM_001408481.1:c.578-741C>G
NM_001408482.1:c.578-741C>G
NM_001408483.1:c.578-741C>G
NM_001408484.1:c.578-741C>G
NM_001408485.1:c.578-741C>G
NM_001408489.1:c.578-741C>G
NM_001408490.1:c.575-741C>G
NM_001408491.1:c.575-741C>G
NM_001408492.1:c.578-741C>G
NM_001408493.1:c.575-741C>G
NM_001408494.1:c.548-741C>G
NM_001408495.1:c.545-741C>G
NM_001408496.1:c.524-741C>G
NM_001408497.1:c.524-741C>G
NM_001408498.1:c.524-741C>G
NM_001408499.1:c.524-741C>G
NM_001408500.1:c.524-741C>G
NM_001408501.1:c.524-741C>G
NM_001408502.1:c.455-741C>G
NM_001408503.1:c.521-741C>G
NM_001408504.1:c.521-741C>G
NM_001408505.1:c.521-741C>G
NM_001408506.1:c.461-741C>G
NM_001408507.1:c.461-741C>G
NM_001408508.1:c.452-741C>G
NM_001408509.1:c.452-741C>G
NM_001408510.1:c.407-741C>G
NM_001408511.1:c.404-741C>G
NM_001408512.1:c.284-741C>G
NM_001408513.1:c.578-741C>G
NM_001408514.1:c.578-741C>G
NM_007294.4:c.3758C>GMANE SELECT
NM_007297.4:c.3617C>G
NM_007298.4:c.788-741C>G
NM_007299.4:c.788-741C>G
NM_007300.4:c.3758C>G
NP_001394500.1:p.Ser1182Cys
NP_001394510.1:p.Ser1253Cys
NP_001394511.1:p.Ser1253Cys
NP_001394512.1:p.Ser1253Cys
NP_001394514.1:p.Ser1253Cys
NP_001394516.1:p.Ser1252Cys
NP_001394519.1:p.Ser1252Cys
NP_001394520.1:p.Ser1252Cys
NP_001394522.1:p.Ser1253Cys
NP_001394523.1:p.Ser1253Cys
NP_001394525.1:p.Ser1253Cys
NP_001394526.1:p.Ser1253Cys
NP_001394527.1:p.Ser1253Cys
NP_001394531.1:p.Ser1253Cys
NP_001394532.1:p.Ser1253Cys
NP_001394534.1:p.Ser1253Cys
NP_001394539.1:p.Ser1252Cys
NP_001394540.1:p.Ser1252Cys
NP_001394541.1:p.Ser1252Cys
NP_001394542.1:p.Ser1252Cys
NP_001394543.1:p.Ser1252Cys
NP_001394544.1:p.Ser1252Cys
NP_001394545.1:p.Ser1253Cys
NP_001394546.1:p.Ser1253Cys
NP_001394547.1:p.Ser1253Cys
NP_001394548.1:p.Ser1253Cys
NP_001394549.1:p.Ser1253Cys
NP_001394550.1:p.Ser1253Cys
NP_001394551.1:p.Ser1253Cys
NP_001394552.1:p.Ser1253Cys
NP_001394553.1:p.Ser1253Cys
NP_001394554.1:p.Ser1253Cys
NP_001394555.1:p.Ser1253Cys
NP_001394556.1:p.Ser1252Cys
NP_001394557.1:p.Ser1252Cys
NP_001394558.1:p.Ser1252Cys
NP_001394559.1:p.Ser1252Cys
NP_001394560.1:p.Ser1252Cys
NP_001394561.1:p.Ser1252Cys
NP_001394562.1:p.Ser1252Cys
NP_001394563.1:p.Ser1252Cys
NP_001394564.1:p.Ser1252Cys
NP_001394565.1:p.Ser1252Cys
NP_001394566.1:p.Ser1252Cys
NP_001394567.1:p.Ser1252Cys
NP_001394568.1:p.Ser1253Cys
NP_001394569.1:p.Ser1253Cys
NP_001394570.1:p.Ser1253Cys
NP_001394571.1:p.Ser1253Cys
NP_001394573.1:p.Ser1252Cys
NP_001394574.1:p.Ser1252Cys
NP_001394575.1:p.Ser1250Cys
NP_001394576.1:p.Ser1250Cys
NP_001394577.1:p.Ser1212Cys
NP_001394578.1:p.Ser1211Cys
NP_001394581.1:p.Ser1253Cys
NP_001394582.1:p.Ser1227Cys
NP_001394583.1:p.Ser1227Cys
NP_001394584.1:p.Ser1227Cys
NP_001394585.1:p.Ser1227Cys
NP_001394586.1:p.Ser1227Cys
NP_001394587.1:p.Ser1227Cys
NP_001394588.1:p.Ser1226Cys
NP_001394589.1:p.Ser1226Cys
NP_001394590.1:p.Ser1226Cys
NP_001394591.1:p.Ser1226Cys
NP_001394592.1:p.Ser1227Cys
NP_001394593.1:p.Ser1212Cys
NP_001394594.1:p.Ser1212Cys
NP_001394595.1:p.Ser1212Cys
NP_001394596.1:p.Ser1212Cys
NP_001394597.1:p.Ser1212Cys
NP_001394598.1:p.Ser1212Cys
NP_001394599.1:p.Ser1211Cys
NP_001394600.1:p.Ser1211Cys
NP_001394601.1:p.Ser1211Cys
NP_001394602.1:p.Ser1211Cys
NP_001394603.1:p.Ser1212Cys
NP_001394604.1:p.Ser1212Cys
NP_001394605.1:p.Ser1212Cys
NP_001394606.1:p.Ser1212Cys
NP_001394607.1:p.Ser1212Cys
NP_001394608.1:p.Ser1212Cys
NP_001394609.1:p.Ser1212Cys
NP_001394610.1:p.Ser1212Cys
NP_001394611.1:p.Ser1212Cys
NP_001394612.1:p.Ser1212Cys
NP_001394613.1:p.Ser1253Cys
NP_001394614.1:p.Ser1211Cys
NP_001394615.1:p.Ser1211Cys
NP_001394616.1:p.Ser1211Cys
NP_001394617.1:p.Ser1211Cys
NP_001394618.1:p.Ser1211Cys
NP_001394619.1:p.Ser1211Cys
NP_001394620.1:p.Ser1211Cys
NP_001394621.1:p.Ser1206Cys
NP_001394623.1:p.Ser1206Cys
NP_001394624.1:p.Ser1206Cys
NP_001394625.1:p.Ser1206Cys
NP_001394626.1:p.Ser1206Cys
NP_001394627.1:p.Ser1206Cys
NP_001394653.1:p.Ser1206Cys
NP_001394654.1:p.Ser1206Cys
NP_001394655.1:p.Ser1206Cys
NP_001394656.1:p.Ser1206Cys
NP_001394657.1:p.Ser1206Cys
NP_001394658.1:p.Ser1206Cys
NP_001394659.1:p.Ser1206Cys
NP_001394660.1:p.Ser1206Cys
NP_001394661.1:p.Ser1206Cys
NP_001394662.1:p.Ser1206Cys
NP_001394663.1:p.Ser1206Cys
NP_001394664.1:p.Ser1206Cys
NP_001394665.1:p.Ser1206Cys
NP_001394666.1:p.Ser1206Cys
NP_001394667.1:p.Ser1206Cys
NP_001394668.1:p.Ser1206Cys
NP_001394669.1:p.Ser1205Cys
NP_001394670.1:p.Ser1205Cys
NP_001394671.1:p.Ser1205Cys
NP_001394672.1:p.Ser1205Cys
NP_001394673.1:p.Ser1205Cys
NP_001394674.1:p.Ser1205Cys
NP_001394675.1:p.Ser1205Cys
NP_001394676.1:p.Ser1205Cys
NP_001394677.1:p.Ser1205Cys
NP_001394678.1:p.Ser1205Cys
NP_001394679.1:p.Ser1206Cys
NP_001394680.1:p.Ser1206Cys
NP_001394681.1:p.Ser1206Cys
NP_001394767.1:p.Ser1205Cys
NP_001394768.1:p.Ser1205Cys
NP_001394770.1:p.Ser1205Cys
NP_001394771.1:p.Ser1205Cys
NP_001394772.1:p.Ser1205Cys
NP_001394773.1:p.Ser1205Cys
NP_001394774.1:p.Ser1205Cys
NP_001394775.1:p.Ser1205Cys
NP_001394776.1:p.Ser1205Cys
NP_001394777.1:p.Ser1205Cys
NP_001394778.1:p.Ser1205Cys
NP_001394779.1:p.Ser1206Cys
NP_001394780.1:p.Ser1206Cys
NP_001394781.1:p.Ser1206Cys
NP_001394782.1:p.Ser1182Cys
NP_001394783.1:p.Ser1253Cys
NP_001394787.1:p.Ser1253Cys
NP_001394788.1:p.Ser1253Cys
NP_001394789.1:p.Ser1252Cys
NP_001394790.1:p.Ser1252Cys
NP_001394791.1:p.Ser1186Cys
NP_001394792.1:p.Ser1212Cys
NP_001394803.1:p.Ser1185Cys
NP_001394804.1:p.Ser1185Cys
NP_001394808.1:p.Ser1183Cys
NP_001394810.1:p.Ser1183Cys
NP_001394811.1:p.Ser1183Cys
NP_001394813.1:p.Ser1183Cys
NP_001394814.1:p.Ser1183Cys
NP_001394815.1:p.Ser1183Cys
NP_001394816.1:p.Ser1183Cys
NP_001394818.1:p.Ser1183Cys
NP_001394823.1:p.Ser1182Cys
NP_001394824.1:p.Ser1182Cys
NP_001394825.1:p.Ser1182Cys
NP_001394826.1:p.Ser1182Cys
NP_001394827.1:p.Ser1182Cys
NP_001394828.1:p.Ser1182Cys
NP_001394829.1:p.Ser1183Cys
NP_001394831.1:p.Ser1183Cys
NP_001394833.1:p.Ser1183Cys
NP_001394835.1:p.Ser1183Cys
NP_001394836.1:p.Ser1183Cys
NP_001394837.1:p.Ser1183Cys
NP_001394838.1:p.Ser1183Cys
NP_001394839.1:p.Ser1183Cys
NP_001394844.1:p.Ser1182Cys
NP_001394845.1:p.Ser1182Cys
NP_001394846.1:p.Ser1182Cys
NP_001394847.1:p.Ser1182Cys
NP_001394848.1:p.Ser1212Cys
NP_001394849.1:p.Ser1165Cys
NP_001394850.1:p.Ser1165Cys
NP_001394851.1:p.Ser1165Cys
NP_001394852.1:p.Ser1165Cys
NP_001394853.1:p.Ser1165Cys
NP_001394854.1:p.Ser1165Cys
NP_001394855.1:p.Ser1165Cys
NP_001394856.1:p.Ser1165Cys
NP_001394857.1:p.Ser1165Cys
NP_001394858.1:p.Ser1165Cys
NP_001394859.1:p.Ser1164Cys
NP_001394860.1:p.Ser1164Cys
NP_001394861.1:p.Ser1164Cys
NP_001394862.1:p.Ser1165Cys
NP_001394863.1:p.Ser1164Cys
NP_001394864.1:p.Ser1165Cys
NP_001394865.1:p.Ser1164Cys
NP_001394866.1:p.Ser1212Cys
NP_001394867.1:p.Ser1212Cys
NP_001394868.1:p.Ser1212Cys
NP_001394869.1:p.Ser1211Cys
NP_001394870.1:p.Ser1211Cys
NP_001394871.1:p.Ser1206Cys
NP_001394872.1:p.Ser1205Cys
NP_001394873.1:p.Ser1206Cys
NP_001394874.1:p.Ser1206Cys
NP_001394875.1:p.Ser1142Cys
NP_001394876.1:p.Ser1142Cys
NP_001394877.1:p.Ser1142Cys
NP_001394878.1:p.Ser1142Cys
NP_001394879.1:p.Ser1142Cys
NP_001394880.1:p.Ser1142Cys
NP_001394881.1:p.Ser1142Cys
NP_001394882.1:p.Ser1142Cys
NP_001394883.1:p.Ser1141Cys
NP_001394884.1:p.Ser1141Cys
NP_001394885.1:p.Ser1141Cys
NP_001394886.1:p.Ser1142Cys
NP_001394887.1:p.Ser1141Cys
NP_001394888.1:p.Ser1126Cys
NP_001394889.1:p.Ser1126Cys
NP_001394891.1:p.Ser1125Cys
NP_001394892.1:p.Ser1126Cys
NP_001394893.1:p.Ser1205Cys
NP_001394894.1:p.Ser1085Cys
NP_001394895.1:p.Ser957Cys
NP_001394896.1:p.Ser957Cys
NP_001394897.1:p.Ser385Cys
NP_001394898.1:p.Ser385Cys
NP_009225.1:p.Ser1253Cys
NP_009225.1:p.Ser1253Cys
NP_009228.2:p.Ser1206Cys
NP_009231.2:p.Ser1253Cys
LRG_292t1:c.3758C>G
LRG_292:g.126211C>G
LRG_292p1:p.Ser1253Cys
NC_000017.10:g.41243790G>C
NM_007294.3:c.3758C>G
NR_027676.1:n.3894C>G
p.S1253C

Protein change:

S1085C

Links:

dbSNP: rs397509100

NCBI 1000 Genomes Browser:

rs397509100

Molecular consequence:

NM_001407970.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-750C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3749C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3749C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3677C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3677C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3677C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3677C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.3557C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.3554C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.3554C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.3422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.3422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.3422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.3422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.3377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.3377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.3374C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.3377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.3254C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2870C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2870C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000216561	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 5, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25036526, 32885271 Citation Link,
SCV000683131	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 13, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25036526, 33471991, 25741868
SCV003848117	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Dines et al. (Genet Med. 2020))	Likely benign (Mar 23, 2023)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000216561

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 5, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000683131

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 13, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV003848117

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Dines et al. (Genet Med. 2020))

Likely benign
(Mar 23, 2023)

germline

curation

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

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.

Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS.

J Cancer Res Clin Oncol. 2021 Mar;147(3):871-879. doi: 10.1007/s00432-020-03377-6. Epub 2020 Sep 3. Erratum in: J Cancer Res Clin Oncol. 2021 Aug;147(8):2487. doi: 10.1007/s00432-020-03399-0.

PubMed [citation]

PMID:: 32885271

Absence of BRCA/FMR1 correlations in women with ovarian cancers.

Gleicher N, McAlpine JN, Gilks CB, Kushnir VA, Lee HJ, Wu YG, Lazzaroni-Tealdi E, Barad DH.

PLoS One. 2014;9(7):e102370. doi: 10.1371/journal.pone.0102370.

PubMed [citation]

PMID:: 25036526
PMCID:: PMC4103842

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000216561.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.S1253C variant (also known as c.3758C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 3758. The serine at codon 1253 is replaced by cysteine, an amino acid with dissimilar properties. This alteration has been reported in an individual with ovarian cancer (Gleicher N et al. PLoS ONE. 2014 Jul;9:e102370). This variant was also observed in 1/3251 individuals who met eligibility criteria for hereditary breast and ovarian cancer syndrome (Lerner-Ellis J et al. J Cancer Res Clin Oncol, 2021 Mar;147:871-879). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000683131.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This missense variant replaces serine with cysteine at codon 1253 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two individuals affected with ovarian cancer (PMID: 25036526) and in a breast cancer case-control meta-analysis in 1/60466 cases and 1/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_006306). This variant also has been detected in an individual age 70 years or older without cancer (FLOSSIES database). This variant has been identified in 5/282660 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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 University of Washington Department of Laboratory Medicine, University of Washington, SCV003848117.1

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

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

#	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: Nov 3, 2024

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