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

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 18, 2024
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:
RCV000203862.14

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

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

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
HGVS:
  • NC_000017.11:g.43091773G>C
  • NG_005905.2:g.126211C>G
  • NG_087068.1:g.755G>C
  • NM_001407571.1:c.3545C>G
  • NM_001407581.1:c.3758C>G
  • NM_001407582.1:c.3758C>G
  • NM_001407583.1:c.3758C>G
  • NM_001407585.1:c.3758C>G
  • NM_001407587.1:c.3755C>G
  • NM_001407590.1:c.3755C>G
  • NM_001407591.1:c.3755C>G
  • NM_001407593.1:c.3758C>G
  • NM_001407594.1:c.3758C>G
  • NM_001407596.1:c.3758C>G
  • NM_001407597.1:c.3758C>G
  • NM_001407598.1:c.3758C>G
  • NM_001407602.1:c.3758C>G
  • NM_001407603.1:c.3758C>G
  • NM_001407605.1:c.3758C>G
  • NM_001407610.1:c.3755C>G
  • NM_001407611.1:c.3755C>G
  • NM_001407612.1:c.3755C>G
  • NM_001407613.1:c.3755C>G
  • NM_001407614.1:c.3755C>G
  • NM_001407615.1:c.3755C>G
  • NM_001407616.1:c.3758C>G
  • NM_001407617.1:c.3758C>G
  • NM_001407618.1:c.3758C>G
  • NM_001407619.1:c.3758C>G
  • NM_001407620.1:c.3758C>G
  • NM_001407621.1:c.3758C>G
  • NM_001407622.1:c.3758C>G
  • NM_001407623.1:c.3758C>G
  • NM_001407624.1:c.3758C>G
  • NM_001407625.1:c.3758C>G
  • NM_001407626.1:c.3758C>G
  • NM_001407627.1:c.3755C>G
  • NM_001407628.1:c.3755C>G
  • NM_001407629.1:c.3755C>G
  • NM_001407630.1:c.3755C>G
  • NM_001407631.1:c.3755C>G
  • NM_001407632.1:c.3755C>G
  • NM_001407633.1:c.3755C>G
  • NM_001407634.1:c.3755C>G
  • NM_001407635.1:c.3755C>G
  • NM_001407636.1:c.3755C>G
  • NM_001407637.1:c.3755C>G
  • NM_001407638.1:c.3755C>G
  • NM_001407639.1:c.3758C>G
  • NM_001407640.1:c.3758C>G
  • NM_001407641.1:c.3758C>G
  • NM_001407642.1:c.3758C>G
  • NM_001407644.1:c.3755C>G
  • NM_001407645.1:c.3755C>G
  • NM_001407646.1:c.3749C>G
  • NM_001407647.1:c.3749C>G
  • NM_001407648.1:c.3635C>G
  • NM_001407649.1:c.3632C>G
  • NM_001407652.1:c.3758C>G
  • NM_001407653.1:c.3680C>G
  • NM_001407654.1:c.3680C>G
  • NM_001407655.1:c.3680C>G
  • NM_001407656.1:c.3680C>G
  • NM_001407657.1:c.3680C>G
  • NM_001407658.1:c.3680C>G
  • NM_001407659.1:c.3677C>G
  • NM_001407660.1:c.3677C>G
  • NM_001407661.1:c.3677C>G
  • NM_001407662.1:c.3677C>G
  • NM_001407663.1:c.3680C>G
  • NM_001407664.1:c.3635C>G
  • NM_001407665.1:c.3635C>G
  • NM_001407666.1:c.3635C>G
  • NM_001407667.1:c.3635C>G
  • NM_001407668.1:c.3635C>G
  • NM_001407669.1:c.3635C>G
  • NM_001407670.1:c.3632C>G
  • NM_001407671.1:c.3632C>G
  • NM_001407672.1:c.3632C>G
  • NM_001407673.1:c.3632C>G
  • NM_001407674.1:c.3635C>G
  • NM_001407675.1:c.3635C>G
  • NM_001407676.1:c.3635C>G
  • NM_001407677.1:c.3635C>G
  • NM_001407678.1:c.3635C>G
  • NM_001407679.1:c.3635C>G
  • NM_001407680.1:c.3635C>G
  • NM_001407681.1:c.3635C>G
  • NM_001407682.1:c.3635C>G
  • NM_001407683.1:c.3635C>G
  • NM_001407684.1:c.3758C>G
  • NM_001407685.1:c.3632C>G
  • NM_001407686.1:c.3632C>G
  • NM_001407687.1:c.3632C>G
  • NM_001407688.1:c.3632C>G
  • NM_001407689.1:c.3632C>G
  • NM_001407690.1:c.3632C>G
  • NM_001407691.1:c.3632C>G
  • NM_001407692.1:c.3617C>G
  • NM_001407694.1:c.3617C>G
  • NM_001407695.1:c.3617C>G
  • NM_001407696.1:c.3617C>G
  • NM_001407697.1:c.3617C>G
  • NM_001407698.1:c.3617C>G
  • NM_001407724.1:c.3617C>G
  • NM_001407725.1:c.3617C>G
  • NM_001407726.1:c.3617C>G
  • NM_001407727.1:c.3617C>G
  • NM_001407728.1:c.3617C>G
  • NM_001407729.1:c.3617C>G
  • NM_001407730.1:c.3617C>G
  • NM_001407731.1:c.3617C>G
  • NM_001407732.1:c.3617C>G
  • NM_001407733.1:c.3617C>G
  • NM_001407734.1:c.3617C>G
  • NM_001407735.1:c.3617C>G
  • NM_001407736.1:c.3617C>G
  • NM_001407737.1:c.3617C>G
  • NM_001407738.1:c.3617C>G
  • NM_001407739.1:c.3617C>G
  • NM_001407740.1:c.3614C>G
  • NM_001407741.1:c.3614C>G
  • NM_001407742.1:c.3614C>G
  • NM_001407743.1:c.3614C>G
  • NM_001407744.1:c.3614C>G
  • NM_001407745.1:c.3614C>G
  • NM_001407746.1:c.3614C>G
  • NM_001407747.1:c.3614C>G
  • NM_001407748.1:c.3614C>G
  • NM_001407749.1:c.3614C>G
  • NM_001407750.1:c.3617C>G
  • NM_001407751.1:c.3617C>G
  • NM_001407752.1:c.3617C>G
  • NM_001407838.1:c.3614C>G
  • NM_001407839.1:c.3614C>G
  • NM_001407841.1:c.3614C>G
  • NM_001407842.1:c.3614C>G
  • NM_001407843.1:c.3614C>G
  • NM_001407844.1:c.3614C>G
  • NM_001407845.1:c.3614C>G
  • NM_001407846.1:c.3614C>G
  • NM_001407847.1:c.3614C>G
  • NM_001407848.1:c.3614C>G
  • NM_001407849.1:c.3614C>G
  • NM_001407850.1:c.3617C>G
  • NM_001407851.1:c.3617C>G
  • NM_001407852.1:c.3617C>G
  • NM_001407853.1:c.3545C>G
  • NM_001407854.1:c.3758C>G
  • NM_001407858.1:c.3758C>G
  • NM_001407859.1:c.3758C>G
  • NM_001407860.1:c.3755C>G
  • NM_001407861.1:c.3755C>G
  • NM_001407862.1:c.3557C>G
  • NM_001407863.1:c.3635C>G
  • NM_001407874.1:c.3554C>G
  • NM_001407875.1:c.3554C>G
  • NM_001407879.1:c.3548C>G
  • NM_001407881.1:c.3548C>G
  • NM_001407882.1:c.3548C>G
  • NM_001407884.1:c.3548C>G
  • NM_001407885.1:c.3548C>G
  • NM_001407886.1:c.3548C>G
  • NM_001407887.1:c.3548C>G
  • NM_001407889.1:c.3548C>G
  • NM_001407894.1:c.3545C>G
  • NM_001407895.1:c.3545C>G
  • NM_001407896.1:c.3545C>G
  • NM_001407897.1:c.3545C>G
  • NM_001407898.1:c.3545C>G
  • NM_001407899.1:c.3545C>G
  • NM_001407900.1:c.3548C>G
  • NM_001407902.1:c.3548C>G
  • NM_001407904.1:c.3548C>G
  • NM_001407906.1:c.3548C>G
  • NM_001407907.1:c.3548C>G
  • NM_001407908.1:c.3548C>G
  • NM_001407909.1:c.3548C>G
  • NM_001407910.1:c.3548C>G
  • NM_001407915.1:c.3545C>G
  • NM_001407916.1:c.3545C>G
  • NM_001407917.1:c.3545C>G
  • NM_001407918.1:c.3545C>G
  • NM_001407919.1:c.3635C>G
  • NM_001407920.1:c.3494C>G
  • NM_001407921.1:c.3494C>G
  • NM_001407922.1:c.3494C>G
  • NM_001407923.1:c.3494C>G
  • NM_001407924.1:c.3494C>G
  • NM_001407925.1:c.3494C>G
  • NM_001407926.1:c.3494C>G
  • NM_001407927.1:c.3494C>G
  • NM_001407928.1:c.3494C>G
  • NM_001407929.1:c.3494C>G
  • NM_001407930.1:c.3491C>G
  • NM_001407931.1:c.3491C>G
  • NM_001407932.1:c.3491C>G
  • NM_001407933.1:c.3494C>G
  • NM_001407934.1:c.3491C>G
  • NM_001407935.1:c.3494C>G
  • NM_001407936.1:c.3491C>G
  • NM_001407937.1:c.3635C>G
  • NM_001407938.1:c.3635C>G
  • NM_001407939.1:c.3635C>G
  • NM_001407940.1:c.3632C>G
  • NM_001407941.1:c.3632C>G
  • NM_001407942.1:c.3617C>G
  • NM_001407943.1:c.3614C>G
  • NM_001407944.1:c.3617C>G
  • NM_001407945.1:c.3617C>G
  • NM_001407946.1:c.3425C>G
  • NM_001407947.1:c.3425C>G
  • NM_001407948.1:c.3425C>G
  • NM_001407949.1:c.3425C>G
  • NM_001407950.1:c.3425C>G
  • NM_001407951.1:c.3425C>G
  • NM_001407952.1:c.3425C>G
  • NM_001407953.1:c.3425C>G
  • NM_001407954.1:c.3422C>G
  • NM_001407955.1:c.3422C>G
  • NM_001407956.1:c.3422C>G
  • NM_001407957.1:c.3425C>G
  • NM_001407958.1:c.3422C>G
  • NM_001407959.1:c.3377C>G
  • NM_001407960.1:c.3377C>G
  • NM_001407962.1:c.3374C>G
  • NM_001407963.1:c.3377C>G
  • NM_001407964.1:c.3614C>G
  • NM_001407965.1:c.3254C>G
  • NM_001407966.1:c.2870C>G
  • NM_001407967.1:c.2870C>G
  • NM_001407968.1:c.1154C>G
  • NM_001407969.1:c.1154C>G
  • NM_001407970.1:c.788-741C>G
  • NM_001407971.1:c.788-741C>G
  • NM_001407972.1:c.785-741C>G
  • NM_001407973.1:c.788-741C>G
  • NM_001407974.1:c.788-741C>G
  • NM_001407975.1:c.788-741C>G
  • NM_001407976.1:c.788-741C>G
  • NM_001407977.1:c.788-741C>G
  • NM_001407978.1:c.788-741C>G
  • NM_001407979.1:c.788-741C>G
  • NM_001407980.1:c.788-741C>G
  • NM_001407981.1:c.788-741C>G
  • NM_001407982.1:c.788-741C>G
  • NM_001407983.1:c.788-741C>G
  • NM_001407984.1:c.785-741C>G
  • NM_001407985.1:c.785-741C>G
  • NM_001407986.1:c.785-741C>G
  • NM_001407990.1:c.788-741C>G
  • NM_001407991.1:c.785-741C>G
  • NM_001407992.1:c.785-741C>G
  • NM_001407993.1:c.788-741C>G
  • NM_001408392.1:c.785-741C>G
  • NM_001408396.1:c.785-741C>G
  • NM_001408397.1:c.785-741C>G
  • NM_001408398.1:c.785-741C>G
  • NM_001408399.1:c.785-741C>G
  • NM_001408400.1:c.785-741C>G
  • NM_001408401.1:c.785-741C>G
  • NM_001408402.1:c.785-741C>G
  • NM_001408403.1:c.788-741C>G
  • NM_001408404.1:c.788-741C>G
  • NM_001408406.1:c.791-750C>G
  • NM_001408407.1:c.785-741C>G
  • NM_001408408.1:c.779-741C>G
  • NM_001408409.1:c.710-741C>G
  • NM_001408410.1:c.647-741C>G
  • NM_001408411.1:c.710-741C>G
  • NM_001408412.1:c.710-741C>G
  • NM_001408413.1:c.707-741C>G
  • NM_001408414.1:c.710-741C>G
  • NM_001408415.1:c.710-741C>G
  • NM_001408416.1:c.707-741C>G
  • NM_001408418.1:c.671-741C>G
  • NM_001408419.1:c.671-741C>G
  • NM_001408420.1:c.671-741C>G
  • NM_001408421.1:c.668-741C>G
  • NM_001408422.1:c.671-741C>G
  • NM_001408423.1:c.671-741C>G
  • NM_001408424.1:c.668-741C>G
  • NM_001408425.1:c.665-741C>G
  • NM_001408426.1:c.665-741C>G
  • NM_001408427.1:c.665-741C>G
  • NM_001408428.1:c.665-741C>G
  • NM_001408429.1:c.665-741C>G
  • NM_001408430.1:c.665-741C>G
  • NM_001408431.1:c.668-741C>G
  • NM_001408432.1:c.662-741C>G
  • NM_001408433.1:c.662-741C>G
  • NM_001408434.1:c.662-741C>G
  • NM_001408435.1:c.662-741C>G
  • NM_001408436.1:c.665-741C>G
  • NM_001408437.1:c.665-741C>G
  • NM_001408438.1:c.665-741C>G
  • NM_001408439.1:c.665-741C>G
  • NM_001408440.1:c.665-741C>G
  • NM_001408441.1:c.665-741C>G
  • NM_001408442.1:c.665-741C>G
  • NM_001408443.1:c.665-741C>G
  • NM_001408444.1:c.665-741C>G
  • NM_001408445.1:c.662-741C>G
  • NM_001408446.1:c.662-741C>G
  • NM_001408447.1:c.662-741C>G
  • NM_001408448.1:c.662-741C>G
  • NM_001408450.1:c.662-741C>G
  • NM_001408451.1:c.653-741C>G
  • NM_001408452.1:c.647-741C>G
  • NM_001408453.1:c.647-741C>G
  • NM_001408454.1:c.647-741C>G
  • NM_001408455.1:c.647-741C>G
  • NM_001408456.1:c.647-741C>G
  • NM_001408457.1:c.647-741C>G
  • NM_001408458.1:c.647-741C>G
  • NM_001408459.1:c.647-741C>G
  • NM_001408460.1:c.647-741C>G
  • NM_001408461.1:c.647-741C>G
  • NM_001408462.1:c.644-741C>G
  • NM_001408463.1:c.644-741C>G
  • NM_001408464.1:c.644-741C>G
  • NM_001408465.1:c.644-741C>G
  • NM_001408466.1:c.647-741C>G
  • NM_001408467.1:c.647-741C>G
  • NM_001408468.1:c.644-741C>G
  • NM_001408469.1:c.647-741C>G
  • NM_001408470.1:c.644-741C>G
  • NM_001408472.1:c.788-741C>G
  • NM_001408473.1:c.785-741C>G
  • NM_001408474.1:c.587-741C>G
  • NM_001408475.1:c.584-741C>G
  • NM_001408476.1:c.587-741C>G
  • NM_001408478.1:c.578-741C>G
  • NM_001408479.1:c.578-741C>G
  • NM_001408480.1:c.578-741C>G
  • NM_001408481.1:c.578-741C>G
  • NM_001408482.1:c.578-741C>G
  • NM_001408483.1:c.578-741C>G
  • NM_001408484.1:c.578-741C>G
  • NM_001408485.1:c.578-741C>G
  • NM_001408489.1:c.578-741C>G
  • NM_001408490.1:c.575-741C>G
  • NM_001408491.1:c.575-741C>G
  • NM_001408492.1:c.578-741C>G
  • NM_001408493.1:c.575-741C>G
  • NM_001408494.1:c.548-741C>G
  • NM_001408495.1:c.545-741C>G
  • NM_001408496.1:c.524-741C>G
  • NM_001408497.1:c.524-741C>G
  • NM_001408498.1:c.524-741C>G
  • NM_001408499.1:c.524-741C>G
  • NM_001408500.1:c.524-741C>G
  • NM_001408501.1:c.524-741C>G
  • NM_001408502.1:c.455-741C>G
  • NM_001408503.1:c.521-741C>G
  • NM_001408504.1:c.521-741C>G
  • NM_001408505.1:c.521-741C>G
  • NM_001408506.1:c.461-741C>G
  • NM_001408507.1:c.461-741C>G
  • NM_001408508.1:c.452-741C>G
  • NM_001408509.1:c.452-741C>G
  • NM_001408510.1:c.407-741C>G
  • NM_001408511.1:c.404-741C>G
  • NM_001408512.1:c.284-741C>G
  • NM_001408513.1:c.578-741C>G
  • NM_001408514.1:c.578-741C>G
  • NM_007294.4:c.3758C>GMANE SELECT
  • NM_007297.4:c.3617C>G
  • NM_007298.4:c.788-741C>G
  • NM_007299.4:c.788-741C>G
  • NM_007300.4:c.3758C>G
  • NP_001394500.1:p.Ser1182Cys
  • NP_001394510.1:p.Ser1253Cys
  • NP_001394511.1:p.Ser1253Cys
  • NP_001394512.1:p.Ser1253Cys
  • NP_001394514.1:p.Ser1253Cys
  • NP_001394516.1:p.Ser1252Cys
  • NP_001394519.1:p.Ser1252Cys
  • NP_001394520.1:p.Ser1252Cys
  • NP_001394522.1:p.Ser1253Cys
  • NP_001394523.1:p.Ser1253Cys
  • NP_001394525.1:p.Ser1253Cys
  • NP_001394526.1:p.Ser1253Cys
  • NP_001394527.1:p.Ser1253Cys
  • NP_001394531.1:p.Ser1253Cys
  • NP_001394532.1:p.Ser1253Cys
  • NP_001394534.1:p.Ser1253Cys
  • NP_001394539.1:p.Ser1252Cys
  • NP_001394540.1:p.Ser1252Cys
  • NP_001394541.1:p.Ser1252Cys
  • NP_001394542.1:p.Ser1252Cys
  • NP_001394543.1:p.Ser1252Cys
  • NP_001394544.1:p.Ser1252Cys
  • NP_001394545.1:p.Ser1253Cys
  • NP_001394546.1:p.Ser1253Cys
  • NP_001394547.1:p.Ser1253Cys
  • NP_001394548.1:p.Ser1253Cys
  • NP_001394549.1:p.Ser1253Cys
  • NP_001394550.1:p.Ser1253Cys
  • NP_001394551.1:p.Ser1253Cys
  • NP_001394552.1:p.Ser1253Cys
  • NP_001394553.1:p.Ser1253Cys
  • NP_001394554.1:p.Ser1253Cys
  • NP_001394555.1:p.Ser1253Cys
  • NP_001394556.1:p.Ser1252Cys
  • NP_001394557.1:p.Ser1252Cys
  • NP_001394558.1:p.Ser1252Cys
  • NP_001394559.1:p.Ser1252Cys
  • NP_001394560.1:p.Ser1252Cys
  • NP_001394561.1:p.Ser1252Cys
  • NP_001394562.1:p.Ser1252Cys
  • NP_001394563.1:p.Ser1252Cys
  • NP_001394564.1:p.Ser1252Cys
  • NP_001394565.1:p.Ser1252Cys
  • NP_001394566.1:p.Ser1252Cys
  • NP_001394567.1:p.Ser1252Cys
  • NP_001394568.1:p.Ser1253Cys
  • NP_001394569.1:p.Ser1253Cys
  • NP_001394570.1:p.Ser1253Cys
  • NP_001394571.1:p.Ser1253Cys
  • NP_001394573.1:p.Ser1252Cys
  • NP_001394574.1:p.Ser1252Cys
  • NP_001394575.1:p.Ser1250Cys
  • NP_001394576.1:p.Ser1250Cys
  • NP_001394577.1:p.Ser1212Cys
  • NP_001394578.1:p.Ser1211Cys
  • NP_001394581.1:p.Ser1253Cys
  • NP_001394582.1:p.Ser1227Cys
  • NP_001394583.1:p.Ser1227Cys
  • NP_001394584.1:p.Ser1227Cys
  • NP_001394585.1:p.Ser1227Cys
  • NP_001394586.1:p.Ser1227Cys
  • NP_001394587.1:p.Ser1227Cys
  • NP_001394588.1:p.Ser1226Cys
  • NP_001394589.1:p.Ser1226Cys
  • NP_001394590.1:p.Ser1226Cys
  • NP_001394591.1:p.Ser1226Cys
  • NP_001394592.1:p.Ser1227Cys
  • NP_001394593.1:p.Ser1212Cys
  • NP_001394594.1:p.Ser1212Cys
  • NP_001394595.1:p.Ser1212Cys
  • NP_001394596.1:p.Ser1212Cys
  • NP_001394597.1:p.Ser1212Cys
  • NP_001394598.1:p.Ser1212Cys
  • NP_001394599.1:p.Ser1211Cys
  • NP_001394600.1:p.Ser1211Cys
  • NP_001394601.1:p.Ser1211Cys
  • NP_001394602.1:p.Ser1211Cys
  • NP_001394603.1:p.Ser1212Cys
  • NP_001394604.1:p.Ser1212Cys
  • NP_001394605.1:p.Ser1212Cys
  • NP_001394606.1:p.Ser1212Cys
  • NP_001394607.1:p.Ser1212Cys
  • NP_001394608.1:p.Ser1212Cys
  • NP_001394609.1:p.Ser1212Cys
  • NP_001394610.1:p.Ser1212Cys
  • NP_001394611.1:p.Ser1212Cys
  • NP_001394612.1:p.Ser1212Cys
  • NP_001394613.1:p.Ser1253Cys
  • NP_001394614.1:p.Ser1211Cys
  • NP_001394615.1:p.Ser1211Cys
  • NP_001394616.1:p.Ser1211Cys
  • NP_001394617.1:p.Ser1211Cys
  • NP_001394618.1:p.Ser1211Cys
  • NP_001394619.1:p.Ser1211Cys
  • NP_001394620.1:p.Ser1211Cys
  • NP_001394621.1:p.Ser1206Cys
  • NP_001394623.1:p.Ser1206Cys
  • NP_001394624.1:p.Ser1206Cys
  • NP_001394625.1:p.Ser1206Cys
  • NP_001394626.1:p.Ser1206Cys
  • NP_001394627.1:p.Ser1206Cys
  • NP_001394653.1:p.Ser1206Cys
  • NP_001394654.1:p.Ser1206Cys
  • NP_001394655.1:p.Ser1206Cys
  • NP_001394656.1:p.Ser1206Cys
  • NP_001394657.1:p.Ser1206Cys
  • NP_001394658.1:p.Ser1206Cys
  • NP_001394659.1:p.Ser1206Cys
  • NP_001394660.1:p.Ser1206Cys
  • NP_001394661.1:p.Ser1206Cys
  • NP_001394662.1:p.Ser1206Cys
  • NP_001394663.1:p.Ser1206Cys
  • NP_001394664.1:p.Ser1206Cys
  • NP_001394665.1:p.Ser1206Cys
  • NP_001394666.1:p.Ser1206Cys
  • NP_001394667.1:p.Ser1206Cys
  • NP_001394668.1:p.Ser1206Cys
  • NP_001394669.1:p.Ser1205Cys
  • NP_001394670.1:p.Ser1205Cys
  • NP_001394671.1:p.Ser1205Cys
  • NP_001394672.1:p.Ser1205Cys
  • NP_001394673.1:p.Ser1205Cys
  • NP_001394674.1:p.Ser1205Cys
  • NP_001394675.1:p.Ser1205Cys
  • NP_001394676.1:p.Ser1205Cys
  • NP_001394677.1:p.Ser1205Cys
  • NP_001394678.1:p.Ser1205Cys
  • NP_001394679.1:p.Ser1206Cys
  • NP_001394680.1:p.Ser1206Cys
  • NP_001394681.1:p.Ser1206Cys
  • NP_001394767.1:p.Ser1205Cys
  • NP_001394768.1:p.Ser1205Cys
  • NP_001394770.1:p.Ser1205Cys
  • NP_001394771.1:p.Ser1205Cys
  • NP_001394772.1:p.Ser1205Cys
  • NP_001394773.1:p.Ser1205Cys
  • NP_001394774.1:p.Ser1205Cys
  • NP_001394775.1:p.Ser1205Cys
  • NP_001394776.1:p.Ser1205Cys
  • NP_001394777.1:p.Ser1205Cys
  • NP_001394778.1:p.Ser1205Cys
  • NP_001394779.1:p.Ser1206Cys
  • NP_001394780.1:p.Ser1206Cys
  • NP_001394781.1:p.Ser1206Cys
  • NP_001394782.1:p.Ser1182Cys
  • NP_001394783.1:p.Ser1253Cys
  • NP_001394787.1:p.Ser1253Cys
  • NP_001394788.1:p.Ser1253Cys
  • NP_001394789.1:p.Ser1252Cys
  • NP_001394790.1:p.Ser1252Cys
  • NP_001394791.1:p.Ser1186Cys
  • NP_001394792.1:p.Ser1212Cys
  • NP_001394803.1:p.Ser1185Cys
  • NP_001394804.1:p.Ser1185Cys
  • NP_001394808.1:p.Ser1183Cys
  • NP_001394810.1:p.Ser1183Cys
  • NP_001394811.1:p.Ser1183Cys
  • NP_001394813.1:p.Ser1183Cys
  • NP_001394814.1:p.Ser1183Cys
  • NP_001394815.1:p.Ser1183Cys
  • NP_001394816.1:p.Ser1183Cys
  • NP_001394818.1:p.Ser1183Cys
  • NP_001394823.1:p.Ser1182Cys
  • NP_001394824.1:p.Ser1182Cys
  • NP_001394825.1:p.Ser1182Cys
  • NP_001394826.1:p.Ser1182Cys
  • NP_001394827.1:p.Ser1182Cys
  • NP_001394828.1:p.Ser1182Cys
  • NP_001394829.1:p.Ser1183Cys
  • NP_001394831.1:p.Ser1183Cys
  • NP_001394833.1:p.Ser1183Cys
  • NP_001394835.1:p.Ser1183Cys
  • NP_001394836.1:p.Ser1183Cys
  • NP_001394837.1:p.Ser1183Cys
  • NP_001394838.1:p.Ser1183Cys
  • NP_001394839.1:p.Ser1183Cys
  • NP_001394844.1:p.Ser1182Cys
  • NP_001394845.1:p.Ser1182Cys
  • NP_001394846.1:p.Ser1182Cys
  • NP_001394847.1:p.Ser1182Cys
  • NP_001394848.1:p.Ser1212Cys
  • NP_001394849.1:p.Ser1165Cys
  • NP_001394850.1:p.Ser1165Cys
  • NP_001394851.1:p.Ser1165Cys
  • NP_001394852.1:p.Ser1165Cys
  • NP_001394853.1:p.Ser1165Cys
  • NP_001394854.1:p.Ser1165Cys
  • NP_001394855.1:p.Ser1165Cys
  • NP_001394856.1:p.Ser1165Cys
  • NP_001394857.1:p.Ser1165Cys
  • NP_001394858.1:p.Ser1165Cys
  • NP_001394859.1:p.Ser1164Cys
  • NP_001394860.1:p.Ser1164Cys
  • NP_001394861.1:p.Ser1164Cys
  • NP_001394862.1:p.Ser1165Cys
  • NP_001394863.1:p.Ser1164Cys
  • NP_001394864.1:p.Ser1165Cys
  • NP_001394865.1:p.Ser1164Cys
  • NP_001394866.1:p.Ser1212Cys
  • NP_001394867.1:p.Ser1212Cys
  • NP_001394868.1:p.Ser1212Cys
  • NP_001394869.1:p.Ser1211Cys
  • NP_001394870.1:p.Ser1211Cys
  • NP_001394871.1:p.Ser1206Cys
  • NP_001394872.1:p.Ser1205Cys
  • NP_001394873.1:p.Ser1206Cys
  • NP_001394874.1:p.Ser1206Cys
  • NP_001394875.1:p.Ser1142Cys
  • NP_001394876.1:p.Ser1142Cys
  • NP_001394877.1:p.Ser1142Cys
  • NP_001394878.1:p.Ser1142Cys
  • NP_001394879.1:p.Ser1142Cys
  • NP_001394880.1:p.Ser1142Cys
  • NP_001394881.1:p.Ser1142Cys
  • NP_001394882.1:p.Ser1142Cys
  • NP_001394883.1:p.Ser1141Cys
  • NP_001394884.1:p.Ser1141Cys
  • NP_001394885.1:p.Ser1141Cys
  • NP_001394886.1:p.Ser1142Cys
  • NP_001394887.1:p.Ser1141Cys
  • NP_001394888.1:p.Ser1126Cys
  • NP_001394889.1:p.Ser1126Cys
  • NP_001394891.1:p.Ser1125Cys
  • NP_001394892.1:p.Ser1126Cys
  • NP_001394893.1:p.Ser1205Cys
  • NP_001394894.1:p.Ser1085Cys
  • NP_001394895.1:p.Ser957Cys
  • NP_001394896.1:p.Ser957Cys
  • NP_001394897.1:p.Ser385Cys
  • NP_001394898.1:p.Ser385Cys
  • NP_009225.1:p.Ser1253Cys
  • NP_009225.1:p.Ser1253Cys
  • NP_009228.2:p.Ser1206Cys
  • NP_009231.2:p.Ser1253Cys
  • LRG_292t1:c.3758C>G
  • LRG_292:g.126211C>G
  • LRG_292p1:p.Ser1253Cys
  • NC_000017.10:g.41243790G>C
  • NM_007294.3:c.3758C>G
  • NR_027676.1:n.3894C>G
  • p.S1253C
Protein change:
S1085C
Links:
dbSNP: rs397509100
NCBI 1000 Genomes Browser:
rs397509100
Molecular consequence:
  • NM_001407970.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-750C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3749C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3749C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3677C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3677C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3677C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3677C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3680C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3755C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3557C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3554C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3554C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3545C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3491C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3635C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3632C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3422C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3422C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3422C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3422C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3377C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3377C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3374C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3377C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3254C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2870C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2870C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3617C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3758C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000260312Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 18, 2024) 		germlineclinical testing

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

SCV000586895Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Uncertain significance
(Apr 18, 2017) 		germlineclinical testing

Help

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

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.

Front Genet. 2021;12:698595. doi: 10.3389/fgene.2021.698595.

PubMed [citation]
PMID:
34326862
PMCID:
PMC8314385
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000260312.11

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

Description

This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1253 of the BRCA1 protein (p.Ser1253Cys). This variant is present in population databases (rs397509100, gnomAD 0.004%). This missense change has been observed in individual(s) with breast cancer and/or ovarian cancer (PMID: 25036526, 34326862). ClinVar contains an entry for this variant (Variation ID: 186252). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

From Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR), SCV000586895.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024