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NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001193747.3

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001362816Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 15, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, et al.

Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20.

PubMed [citation]
PMID:
28726806
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362816.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: BRCA1 c.3758C>G (p.Ser1253Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251260 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3758C>G has been reported in the literature in at least one individual affected with Ovarian Cancer (example, Gleicher_2014). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 3, 2024