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

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Oct 23, 2024
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:
RCV000759525.9

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

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

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

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000564736GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 23, 2024) 		germlineclinical testing

Citation Link,

SCV000888896Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jul 6, 2023) 		unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot 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 (6)

Details of each submission

From GeneDx, SCV000564736.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in individuals with ovarian cancer and breast cancer in published literature (PMID: 25036526, 34326862, 33471991, 32885271); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 3877C>G; This variant is associated with the following publications: (PMID: 28726806, 31642931, 33471991, 25036526, 34326862, 32885271)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888896.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

In the published literature, this variant has been reported in individuals with breast or ovarian cancer (PMIDs: 32885271 (2021), 25036526 (2014)). In a large-scale breast cancer association study, this variant was observed in a breast cancer case and in a control individual (see LOVD (http://databases.lovd.nl/shared/genes/BRCA1) and PMID: 33471991 (2021)). In addition, this variant has been reported to be located in a region of the BRCA1 gene that is tolerant to missense sequence changes (PMID: 31911673 (2020)). The frequency of this variant in the general population, 0.000039 (5/128986 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Nov 3, 2024