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NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 30, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000411367.5

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]
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000488895Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jul 15, 2016) 		unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV004817752All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Nov 30, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot provided108544not providedclinical testing
not providedunknownunknownnot 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

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000488895.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004817752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided2not providednot providednot provided

Last Updated: Nov 3, 2024