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NM_007294.4(BRCA1):c.3248T>C (p.Met1083Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
May 11, 2024
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000167486.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.3248T>C (p.Met1083Thr)]

NM_007294.4(BRCA1):c.3248T>C (p.Met1083Thr)

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.3248T>C (p.Met1083Thr)
HGVS:
  • NC_000017.11:g.43092283A>G
  • NG_005905.2:g.125701T>C
  • NG_087068.1:g.1265A>G
  • NM_001407571.1:c.3035T>C
  • NM_001407581.1:c.3248T>C
  • NM_001407582.1:c.3248T>C
  • NM_001407583.1:c.3248T>C
  • NM_001407585.1:c.3248T>C
  • NM_001407587.1:c.3245T>C
  • NM_001407590.1:c.3245T>C
  • NM_001407591.1:c.3245T>C
  • NM_001407593.1:c.3248T>C
  • NM_001407594.1:c.3248T>C
  • NM_001407596.1:c.3248T>C
  • NM_001407597.1:c.3248T>C
  • NM_001407598.1:c.3248T>C
  • NM_001407602.1:c.3248T>C
  • NM_001407603.1:c.3248T>C
  • NM_001407605.1:c.3248T>C
  • NM_001407610.1:c.3245T>C
  • NM_001407611.1:c.3245T>C
  • NM_001407612.1:c.3245T>C
  • NM_001407613.1:c.3245T>C
  • NM_001407614.1:c.3245T>C
  • NM_001407615.1:c.3245T>C
  • NM_001407616.1:c.3248T>C
  • NM_001407617.1:c.3248T>C
  • NM_001407618.1:c.3248T>C
  • NM_001407619.1:c.3248T>C
  • NM_001407620.1:c.3248T>C
  • NM_001407621.1:c.3248T>C
  • NM_001407622.1:c.3248T>C
  • NM_001407623.1:c.3248T>C
  • NM_001407624.1:c.3248T>C
  • NM_001407625.1:c.3248T>C
  • NM_001407626.1:c.3248T>C
  • NM_001407627.1:c.3245T>C
  • NM_001407628.1:c.3245T>C
  • NM_001407629.1:c.3245T>C
  • NM_001407630.1:c.3245T>C
  • NM_001407631.1:c.3245T>C
  • NM_001407632.1:c.3245T>C
  • NM_001407633.1:c.3245T>C
  • NM_001407634.1:c.3245T>C
  • NM_001407635.1:c.3245T>C
  • NM_001407636.1:c.3245T>C
  • NM_001407637.1:c.3245T>C
  • NM_001407638.1:c.3245T>C
  • NM_001407639.1:c.3248T>C
  • NM_001407640.1:c.3248T>C
  • NM_001407641.1:c.3248T>C
  • NM_001407642.1:c.3248T>C
  • NM_001407644.1:c.3245T>C
  • NM_001407645.1:c.3245T>C
  • NM_001407646.1:c.3239T>C
  • NM_001407647.1:c.3239T>C
  • NM_001407648.1:c.3125T>C
  • NM_001407649.1:c.3122T>C
  • NM_001407652.1:c.3248T>C
  • NM_001407653.1:c.3170T>C
  • NM_001407654.1:c.3170T>C
  • NM_001407655.1:c.3170T>C
  • NM_001407656.1:c.3170T>C
  • NM_001407657.1:c.3170T>C
  • NM_001407658.1:c.3170T>C
  • NM_001407659.1:c.3167T>C
  • NM_001407660.1:c.3167T>C
  • NM_001407661.1:c.3167T>C
  • NM_001407662.1:c.3167T>C
  • NM_001407663.1:c.3170T>C
  • NM_001407664.1:c.3125T>C
  • NM_001407665.1:c.3125T>C
  • NM_001407666.1:c.3125T>C
  • NM_001407667.1:c.3125T>C
  • NM_001407668.1:c.3125T>C
  • NM_001407669.1:c.3125T>C
  • NM_001407670.1:c.3122T>C
  • NM_001407671.1:c.3122T>C
  • NM_001407672.1:c.3122T>C
  • NM_001407673.1:c.3122T>C
  • NM_001407674.1:c.3125T>C
  • NM_001407675.1:c.3125T>C
  • NM_001407676.1:c.3125T>C
  • NM_001407677.1:c.3125T>C
  • NM_001407678.1:c.3125T>C
  • NM_001407679.1:c.3125T>C
  • NM_001407680.1:c.3125T>C
  • NM_001407681.1:c.3125T>C
  • NM_001407682.1:c.3125T>C
  • NM_001407683.1:c.3125T>C
  • NM_001407684.1:c.3248T>C
  • NM_001407685.1:c.3122T>C
  • NM_001407686.1:c.3122T>C
  • NM_001407687.1:c.3122T>C
  • NM_001407688.1:c.3122T>C
  • NM_001407689.1:c.3122T>C
  • NM_001407690.1:c.3122T>C
  • NM_001407691.1:c.3122T>C
  • NM_001407692.1:c.3107T>C
  • NM_001407694.1:c.3107T>C
  • NM_001407695.1:c.3107T>C
  • NM_001407696.1:c.3107T>C
  • NM_001407697.1:c.3107T>C
  • NM_001407698.1:c.3107T>C
  • NM_001407724.1:c.3107T>C
  • NM_001407725.1:c.3107T>C
  • NM_001407726.1:c.3107T>C
  • NM_001407727.1:c.3107T>C
  • NM_001407728.1:c.3107T>C
  • NM_001407729.1:c.3107T>C
  • NM_001407730.1:c.3107T>C
  • NM_001407731.1:c.3107T>C
  • NM_001407732.1:c.3107T>C
  • NM_001407733.1:c.3107T>C
  • NM_001407734.1:c.3107T>C
  • NM_001407735.1:c.3107T>C
  • NM_001407736.1:c.3107T>C
  • NM_001407737.1:c.3107T>C
  • NM_001407738.1:c.3107T>C
  • NM_001407739.1:c.3107T>C
  • NM_001407740.1:c.3104T>C
  • NM_001407741.1:c.3104T>C
  • NM_001407742.1:c.3104T>C
  • NM_001407743.1:c.3104T>C
  • NM_001407744.1:c.3104T>C
  • NM_001407745.1:c.3104T>C
  • NM_001407746.1:c.3104T>C
  • NM_001407747.1:c.3104T>C
  • NM_001407748.1:c.3104T>C
  • NM_001407749.1:c.3104T>C
  • NM_001407750.1:c.3107T>C
  • NM_001407751.1:c.3107T>C
  • NM_001407752.1:c.3107T>C
  • NM_001407838.1:c.3104T>C
  • NM_001407839.1:c.3104T>C
  • NM_001407841.1:c.3104T>C
  • NM_001407842.1:c.3104T>C
  • NM_001407843.1:c.3104T>C
  • NM_001407844.1:c.3104T>C
  • NM_001407845.1:c.3104T>C
  • NM_001407846.1:c.3104T>C
  • NM_001407847.1:c.3104T>C
  • NM_001407848.1:c.3104T>C
  • NM_001407849.1:c.3104T>C
  • NM_001407850.1:c.3107T>C
  • NM_001407851.1:c.3107T>C
  • NM_001407852.1:c.3107T>C
  • NM_001407853.1:c.3035T>C
  • NM_001407854.1:c.3248T>C
  • NM_001407858.1:c.3248T>C
  • NM_001407859.1:c.3248T>C
  • NM_001407860.1:c.3245T>C
  • NM_001407861.1:c.3245T>C
  • NM_001407862.1:c.3047T>C
  • NM_001407863.1:c.3125T>C
  • NM_001407874.1:c.3044T>C
  • NM_001407875.1:c.3044T>C
  • NM_001407879.1:c.3038T>C
  • NM_001407881.1:c.3038T>C
  • NM_001407882.1:c.3038T>C
  • NM_001407884.1:c.3038T>C
  • NM_001407885.1:c.3038T>C
  • NM_001407886.1:c.3038T>C
  • NM_001407887.1:c.3038T>C
  • NM_001407889.1:c.3038T>C
  • NM_001407894.1:c.3035T>C
  • NM_001407895.1:c.3035T>C
  • NM_001407896.1:c.3035T>C
  • NM_001407897.1:c.3035T>C
  • NM_001407898.1:c.3035T>C
  • NM_001407899.1:c.3035T>C
  • NM_001407900.1:c.3038T>C
  • NM_001407902.1:c.3038T>C
  • NM_001407904.1:c.3038T>C
  • NM_001407906.1:c.3038T>C
  • NM_001407907.1:c.3038T>C
  • NM_001407908.1:c.3038T>C
  • NM_001407909.1:c.3038T>C
  • NM_001407910.1:c.3038T>C
  • NM_001407915.1:c.3035T>C
  • NM_001407916.1:c.3035T>C
  • NM_001407917.1:c.3035T>C
  • NM_001407918.1:c.3035T>C
  • NM_001407919.1:c.3125T>C
  • NM_001407920.1:c.2984T>C
  • NM_001407921.1:c.2984T>C
  • NM_001407922.1:c.2984T>C
  • NM_001407923.1:c.2984T>C
  • NM_001407924.1:c.2984T>C
  • NM_001407925.1:c.2984T>C
  • NM_001407926.1:c.2984T>C
  • NM_001407927.1:c.2984T>C
  • NM_001407928.1:c.2984T>C
  • NM_001407929.1:c.2984T>C
  • NM_001407930.1:c.2981T>C
  • NM_001407931.1:c.2981T>C
  • NM_001407932.1:c.2981T>C
  • NM_001407933.1:c.2984T>C
  • NM_001407934.1:c.2981T>C
  • NM_001407935.1:c.2984T>C
  • NM_001407936.1:c.2981T>C
  • NM_001407937.1:c.3125T>C
  • NM_001407938.1:c.3125T>C
  • NM_001407939.1:c.3125T>C
  • NM_001407940.1:c.3122T>C
  • NM_001407941.1:c.3122T>C
  • NM_001407942.1:c.3107T>C
  • NM_001407943.1:c.3104T>C
  • NM_001407944.1:c.3107T>C
  • NM_001407945.1:c.3107T>C
  • NM_001407946.1:c.2915T>C
  • NM_001407947.1:c.2915T>C
  • NM_001407948.1:c.2915T>C
  • NM_001407949.1:c.2915T>C
  • NM_001407950.1:c.2915T>C
  • NM_001407951.1:c.2915T>C
  • NM_001407952.1:c.2915T>C
  • NM_001407953.1:c.2915T>C
  • NM_001407954.1:c.2912T>C
  • NM_001407955.1:c.2912T>C
  • NM_001407956.1:c.2912T>C
  • NM_001407957.1:c.2915T>C
  • NM_001407958.1:c.2912T>C
  • NM_001407959.1:c.2867T>C
  • NM_001407960.1:c.2867T>C
  • NM_001407962.1:c.2864T>C
  • NM_001407963.1:c.2867T>C
  • NM_001407964.1:c.3104T>C
  • NM_001407965.1:c.2744T>C
  • NM_001407966.1:c.2360T>C
  • NM_001407967.1:c.2360T>C
  • NM_001407968.1:c.788-144T>C
  • NM_001407969.1:c.788-144T>C
  • NM_001407970.1:c.788-1251T>C
  • NM_001407971.1:c.788-1251T>C
  • NM_001407972.1:c.785-1251T>C
  • NM_001407973.1:c.788-1251T>C
  • NM_001407974.1:c.788-1251T>C
  • NM_001407975.1:c.788-1251T>C
  • NM_001407976.1:c.788-1251T>C
  • NM_001407977.1:c.788-1251T>C
  • NM_001407978.1:c.788-1251T>C
  • NM_001407979.1:c.788-1251T>C
  • NM_001407980.1:c.788-1251T>C
  • NM_001407981.1:c.788-1251T>C
  • NM_001407982.1:c.788-1251T>C
  • NM_001407983.1:c.788-1251T>C
  • NM_001407984.1:c.785-1251T>C
  • NM_001407985.1:c.785-1251T>C
  • NM_001407986.1:c.785-1251T>C
  • NM_001407990.1:c.788-1251T>C
  • NM_001407991.1:c.785-1251T>C
  • NM_001407992.1:c.785-1251T>C
  • NM_001407993.1:c.788-1251T>C
  • NM_001408392.1:c.785-1251T>C
  • NM_001408396.1:c.785-1251T>C
  • NM_001408397.1:c.785-1251T>C
  • NM_001408398.1:c.785-1251T>C
  • NM_001408399.1:c.785-1251T>C
  • NM_001408400.1:c.785-1251T>C
  • NM_001408401.1:c.785-1251T>C
  • NM_001408402.1:c.785-1251T>C
  • NM_001408403.1:c.788-1251T>C
  • NM_001408404.1:c.788-1251T>C
  • NM_001408406.1:c.791-1260T>C
  • NM_001408407.1:c.785-1251T>C
  • NM_001408408.1:c.779-1251T>C
  • NM_001408409.1:c.710-1251T>C
  • NM_001408410.1:c.647-1251T>C
  • NM_001408411.1:c.710-1251T>C
  • NM_001408412.1:c.710-1251T>C
  • NM_001408413.1:c.707-1251T>C
  • NM_001408414.1:c.710-1251T>C
  • NM_001408415.1:c.710-1251T>C
  • NM_001408416.1:c.707-1251T>C
  • NM_001408418.1:c.671-1251T>C
  • NM_001408419.1:c.671-1251T>C
  • NM_001408420.1:c.671-1251T>C
  • NM_001408421.1:c.668-1251T>C
  • NM_001408422.1:c.671-1251T>C
  • NM_001408423.1:c.671-1251T>C
  • NM_001408424.1:c.668-1251T>C
  • NM_001408425.1:c.665-1251T>C
  • NM_001408426.1:c.665-1251T>C
  • NM_001408427.1:c.665-1251T>C
  • NM_001408428.1:c.665-1251T>C
  • NM_001408429.1:c.665-1251T>C
  • NM_001408430.1:c.665-1251T>C
  • NM_001408431.1:c.668-1251T>C
  • NM_001408432.1:c.662-1251T>C
  • NM_001408433.1:c.662-1251T>C
  • NM_001408434.1:c.662-1251T>C
  • NM_001408435.1:c.662-1251T>C
  • NM_001408436.1:c.665-1251T>C
  • NM_001408437.1:c.665-1251T>C
  • NM_001408438.1:c.665-1251T>C
  • NM_001408439.1:c.665-1251T>C
  • NM_001408440.1:c.665-1251T>C
  • NM_001408441.1:c.665-1251T>C
  • NM_001408442.1:c.665-1251T>C
  • NM_001408443.1:c.665-1251T>C
  • NM_001408444.1:c.665-1251T>C
  • NM_001408445.1:c.662-1251T>C
  • NM_001408446.1:c.662-1251T>C
  • NM_001408447.1:c.662-1251T>C
  • NM_001408448.1:c.662-1251T>C
  • NM_001408450.1:c.662-1251T>C
  • NM_001408451.1:c.653-1251T>C
  • NM_001408452.1:c.647-1251T>C
  • NM_001408453.1:c.647-1251T>C
  • NM_001408454.1:c.647-1251T>C
  • NM_001408455.1:c.647-1251T>C
  • NM_001408456.1:c.647-1251T>C
  • NM_001408457.1:c.647-1251T>C
  • NM_001408458.1:c.647-1251T>C
  • NM_001408459.1:c.647-1251T>C
  • NM_001408460.1:c.647-1251T>C
  • NM_001408461.1:c.647-1251T>C
  • NM_001408462.1:c.644-1251T>C
  • NM_001408463.1:c.644-1251T>C
  • NM_001408464.1:c.644-1251T>C
  • NM_001408465.1:c.644-1251T>C
  • NM_001408466.1:c.647-1251T>C
  • NM_001408467.1:c.647-1251T>C
  • NM_001408468.1:c.644-1251T>C
  • NM_001408469.1:c.647-1251T>C
  • NM_001408470.1:c.644-1251T>C
  • NM_001408472.1:c.788-1251T>C
  • NM_001408473.1:c.785-1251T>C
  • NM_001408474.1:c.587-1251T>C
  • NM_001408475.1:c.584-1251T>C
  • NM_001408476.1:c.587-1251T>C
  • NM_001408478.1:c.578-1251T>C
  • NM_001408479.1:c.578-1251T>C
  • NM_001408480.1:c.578-1251T>C
  • NM_001408481.1:c.578-1251T>C
  • NM_001408482.1:c.578-1251T>C
  • NM_001408483.1:c.578-1251T>C
  • NM_001408484.1:c.578-1251T>C
  • NM_001408485.1:c.578-1251T>C
  • NM_001408489.1:c.578-1251T>C
  • NM_001408490.1:c.575-1251T>C
  • NM_001408491.1:c.575-1251T>C
  • NM_001408492.1:c.578-1251T>C
  • NM_001408493.1:c.575-1251T>C
  • NM_001408494.1:c.548-1251T>C
  • NM_001408495.1:c.545-1251T>C
  • NM_001408496.1:c.524-1251T>C
  • NM_001408497.1:c.524-1251T>C
  • NM_001408498.1:c.524-1251T>C
  • NM_001408499.1:c.524-1251T>C
  • NM_001408500.1:c.524-1251T>C
  • NM_001408501.1:c.524-1251T>C
  • NM_001408502.1:c.455-1251T>C
  • NM_001408503.1:c.521-1251T>C
  • NM_001408504.1:c.521-1251T>C
  • NM_001408505.1:c.521-1251T>C
  • NM_001408506.1:c.461-1251T>C
  • NM_001408507.1:c.461-1251T>C
  • NM_001408508.1:c.452-1251T>C
  • NM_001408509.1:c.452-1251T>C
  • NM_001408510.1:c.407-1251T>C
  • NM_001408511.1:c.404-1251T>C
  • NM_001408512.1:c.284-1251T>C
  • NM_001408513.1:c.578-1251T>C
  • NM_001408514.1:c.578-1251T>C
  • NM_007294.4:c.3248T>CMANE SELECT
  • NM_007297.4:c.3107T>C
  • NM_007298.4:c.788-1251T>C
  • NM_007299.4:c.788-1251T>C
  • NM_007300.4:c.3248T>C
  • NP_001394500.1:p.Met1012Thr
  • NP_001394510.1:p.Met1083Thr
  • NP_001394511.1:p.Met1083Thr
  • NP_001394512.1:p.Met1083Thr
  • NP_001394514.1:p.Met1083Thr
  • NP_001394516.1:p.Met1082Thr
  • NP_001394519.1:p.Met1082Thr
  • NP_001394520.1:p.Met1082Thr
  • NP_001394522.1:p.Met1083Thr
  • NP_001394523.1:p.Met1083Thr
  • NP_001394525.1:p.Met1083Thr
  • NP_001394526.1:p.Met1083Thr
  • NP_001394527.1:p.Met1083Thr
  • NP_001394531.1:p.Met1083Thr
  • NP_001394532.1:p.Met1083Thr
  • NP_001394534.1:p.Met1083Thr
  • NP_001394539.1:p.Met1082Thr
  • NP_001394540.1:p.Met1082Thr
  • NP_001394541.1:p.Met1082Thr
  • NP_001394542.1:p.Met1082Thr
  • NP_001394543.1:p.Met1082Thr
  • NP_001394544.1:p.Met1082Thr
  • NP_001394545.1:p.Met1083Thr
  • NP_001394546.1:p.Met1083Thr
  • NP_001394547.1:p.Met1083Thr
  • NP_001394548.1:p.Met1083Thr
  • NP_001394549.1:p.Met1083Thr
  • NP_001394550.1:p.Met1083Thr
  • NP_001394551.1:p.Met1083Thr
  • NP_001394552.1:p.Met1083Thr
  • NP_001394553.1:p.Met1083Thr
  • NP_001394554.1:p.Met1083Thr
  • NP_001394555.1:p.Met1083Thr
  • NP_001394556.1:p.Met1082Thr
  • NP_001394557.1:p.Met1082Thr
  • NP_001394558.1:p.Met1082Thr
  • NP_001394559.1:p.Met1082Thr
  • NP_001394560.1:p.Met1082Thr
  • NP_001394561.1:p.Met1082Thr
  • NP_001394562.1:p.Met1082Thr
  • NP_001394563.1:p.Met1082Thr
  • NP_001394564.1:p.Met1082Thr
  • NP_001394565.1:p.Met1082Thr
  • NP_001394566.1:p.Met1082Thr
  • NP_001394567.1:p.Met1082Thr
  • NP_001394568.1:p.Met1083Thr
  • NP_001394569.1:p.Met1083Thr
  • NP_001394570.1:p.Met1083Thr
  • NP_001394571.1:p.Met1083Thr
  • NP_001394573.1:p.Met1082Thr
  • NP_001394574.1:p.Met1082Thr
  • NP_001394575.1:p.Met1080Thr
  • NP_001394576.1:p.Met1080Thr
  • NP_001394577.1:p.Met1042Thr
  • NP_001394578.1:p.Met1041Thr
  • NP_001394581.1:p.Met1083Thr
  • NP_001394582.1:p.Met1057Thr
  • NP_001394583.1:p.Met1057Thr
  • NP_001394584.1:p.Met1057Thr
  • NP_001394585.1:p.Met1057Thr
  • NP_001394586.1:p.Met1057Thr
  • NP_001394587.1:p.Met1057Thr
  • NP_001394588.1:p.Met1056Thr
  • NP_001394589.1:p.Met1056Thr
  • NP_001394590.1:p.Met1056Thr
  • NP_001394591.1:p.Met1056Thr
  • NP_001394592.1:p.Met1057Thr
  • NP_001394593.1:p.Met1042Thr
  • NP_001394594.1:p.Met1042Thr
  • NP_001394595.1:p.Met1042Thr
  • NP_001394596.1:p.Met1042Thr
  • NP_001394597.1:p.Met1042Thr
  • NP_001394598.1:p.Met1042Thr
  • NP_001394599.1:p.Met1041Thr
  • NP_001394600.1:p.Met1041Thr
  • NP_001394601.1:p.Met1041Thr
  • NP_001394602.1:p.Met1041Thr
  • NP_001394603.1:p.Met1042Thr
  • NP_001394604.1:p.Met1042Thr
  • NP_001394605.1:p.Met1042Thr
  • NP_001394606.1:p.Met1042Thr
  • NP_001394607.1:p.Met1042Thr
  • NP_001394608.1:p.Met1042Thr
  • NP_001394609.1:p.Met1042Thr
  • NP_001394610.1:p.Met1042Thr
  • NP_001394611.1:p.Met1042Thr
  • NP_001394612.1:p.Met1042Thr
  • NP_001394613.1:p.Met1083Thr
  • NP_001394614.1:p.Met1041Thr
  • NP_001394615.1:p.Met1041Thr
  • NP_001394616.1:p.Met1041Thr
  • NP_001394617.1:p.Met1041Thr
  • NP_001394618.1:p.Met1041Thr
  • NP_001394619.1:p.Met1041Thr
  • NP_001394620.1:p.Met1041Thr
  • NP_001394621.1:p.Met1036Thr
  • NP_001394623.1:p.Met1036Thr
  • NP_001394624.1:p.Met1036Thr
  • NP_001394625.1:p.Met1036Thr
  • NP_001394626.1:p.Met1036Thr
  • NP_001394627.1:p.Met1036Thr
  • NP_001394653.1:p.Met1036Thr
  • NP_001394654.1:p.Met1036Thr
  • NP_001394655.1:p.Met1036Thr
  • NP_001394656.1:p.Met1036Thr
  • NP_001394657.1:p.Met1036Thr
  • NP_001394658.1:p.Met1036Thr
  • NP_001394659.1:p.Met1036Thr
  • NP_001394660.1:p.Met1036Thr
  • NP_001394661.1:p.Met1036Thr
  • NP_001394662.1:p.Met1036Thr
  • NP_001394663.1:p.Met1036Thr
  • NP_001394664.1:p.Met1036Thr
  • NP_001394665.1:p.Met1036Thr
  • NP_001394666.1:p.Met1036Thr
  • NP_001394667.1:p.Met1036Thr
  • NP_001394668.1:p.Met1036Thr
  • NP_001394669.1:p.Met1035Thr
  • NP_001394670.1:p.Met1035Thr
  • NP_001394671.1:p.Met1035Thr
  • NP_001394672.1:p.Met1035Thr
  • NP_001394673.1:p.Met1035Thr
  • NP_001394674.1:p.Met1035Thr
  • NP_001394675.1:p.Met1035Thr
  • NP_001394676.1:p.Met1035Thr
  • NP_001394677.1:p.Met1035Thr
  • NP_001394678.1:p.Met1035Thr
  • NP_001394679.1:p.Met1036Thr
  • NP_001394680.1:p.Met1036Thr
  • NP_001394681.1:p.Met1036Thr
  • NP_001394767.1:p.Met1035Thr
  • NP_001394768.1:p.Met1035Thr
  • NP_001394770.1:p.Met1035Thr
  • NP_001394771.1:p.Met1035Thr
  • NP_001394772.1:p.Met1035Thr
  • NP_001394773.1:p.Met1035Thr
  • NP_001394774.1:p.Met1035Thr
  • NP_001394775.1:p.Met1035Thr
  • NP_001394776.1:p.Met1035Thr
  • NP_001394777.1:p.Met1035Thr
  • NP_001394778.1:p.Met1035Thr
  • NP_001394779.1:p.Met1036Thr
  • NP_001394780.1:p.Met1036Thr
  • NP_001394781.1:p.Met1036Thr
  • NP_001394782.1:p.Met1012Thr
  • NP_001394783.1:p.Met1083Thr
  • NP_001394787.1:p.Met1083Thr
  • NP_001394788.1:p.Met1083Thr
  • NP_001394789.1:p.Met1082Thr
  • NP_001394790.1:p.Met1082Thr
  • NP_001394791.1:p.Met1016Thr
  • NP_001394792.1:p.Met1042Thr
  • NP_001394803.1:p.Met1015Thr
  • NP_001394804.1:p.Met1015Thr
  • NP_001394808.1:p.Met1013Thr
  • NP_001394810.1:p.Met1013Thr
  • NP_001394811.1:p.Met1013Thr
  • NP_001394813.1:p.Met1013Thr
  • NP_001394814.1:p.Met1013Thr
  • NP_001394815.1:p.Met1013Thr
  • NP_001394816.1:p.Met1013Thr
  • NP_001394818.1:p.Met1013Thr
  • NP_001394823.1:p.Met1012Thr
  • NP_001394824.1:p.Met1012Thr
  • NP_001394825.1:p.Met1012Thr
  • NP_001394826.1:p.Met1012Thr
  • NP_001394827.1:p.Met1012Thr
  • NP_001394828.1:p.Met1012Thr
  • NP_001394829.1:p.Met1013Thr
  • NP_001394831.1:p.Met1013Thr
  • NP_001394833.1:p.Met1013Thr
  • NP_001394835.1:p.Met1013Thr
  • NP_001394836.1:p.Met1013Thr
  • NP_001394837.1:p.Met1013Thr
  • NP_001394838.1:p.Met1013Thr
  • NP_001394839.1:p.Met1013Thr
  • NP_001394844.1:p.Met1012Thr
  • NP_001394845.1:p.Met1012Thr
  • NP_001394846.1:p.Met1012Thr
  • NP_001394847.1:p.Met1012Thr
  • NP_001394848.1:p.Met1042Thr
  • NP_001394849.1:p.Met995Thr
  • NP_001394850.1:p.Met995Thr
  • NP_001394851.1:p.Met995Thr
  • NP_001394852.1:p.Met995Thr
  • NP_001394853.1:p.Met995Thr
  • NP_001394854.1:p.Met995Thr
  • NP_001394855.1:p.Met995Thr
  • NP_001394856.1:p.Met995Thr
  • NP_001394857.1:p.Met995Thr
  • NP_001394858.1:p.Met995Thr
  • NP_001394859.1:p.Met994Thr
  • NP_001394860.1:p.Met994Thr
  • NP_001394861.1:p.Met994Thr
  • NP_001394862.1:p.Met995Thr
  • NP_001394863.1:p.Met994Thr
  • NP_001394864.1:p.Met995Thr
  • NP_001394865.1:p.Met994Thr
  • NP_001394866.1:p.Met1042Thr
  • NP_001394867.1:p.Met1042Thr
  • NP_001394868.1:p.Met1042Thr
  • NP_001394869.1:p.Met1041Thr
  • NP_001394870.1:p.Met1041Thr
  • NP_001394871.1:p.Met1036Thr
  • NP_001394872.1:p.Met1035Thr
  • NP_001394873.1:p.Met1036Thr
  • NP_001394874.1:p.Met1036Thr
  • NP_001394875.1:p.Met972Thr
  • NP_001394876.1:p.Met972Thr
  • NP_001394877.1:p.Met972Thr
  • NP_001394878.1:p.Met972Thr
  • NP_001394879.1:p.Met972Thr
  • NP_001394880.1:p.Met972Thr
  • NP_001394881.1:p.Met972Thr
  • NP_001394882.1:p.Met972Thr
  • NP_001394883.1:p.Met971Thr
  • NP_001394884.1:p.Met971Thr
  • NP_001394885.1:p.Met971Thr
  • NP_001394886.1:p.Met972Thr
  • NP_001394887.1:p.Met971Thr
  • NP_001394888.1:p.Met956Thr
  • NP_001394889.1:p.Met956Thr
  • NP_001394891.1:p.Met955Thr
  • NP_001394892.1:p.Met956Thr
  • NP_001394893.1:p.Met1035Thr
  • NP_001394894.1:p.Met915Thr
  • NP_001394895.1:p.Met787Thr
  • NP_001394896.1:p.Met787Thr
  • NP_009225.1:p.Met1083Thr
  • NP_009225.1:p.Met1083Thr
  • NP_009228.2:p.Met1036Thr
  • NP_009231.2:p.Met1083Thr
  • LRG_292t1:c.3248T>C
  • LRG_292:g.125701T>C
  • LRG_292p1:p.Met1083Thr
  • NC_000017.10:g.41244300A>G
  • NM_007294.3:c.3248T>C
  • NR_027676.1:n.3384T>C
  • p.M1083T
Protein change:
M1012T
Links:
dbSNP: rs786203958
NCBI 1000 Genomes Browser:
rs786203958
Molecular consequence:
  • NM_001407968.1:c.788-144T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-144T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1260T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3239T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3239T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3167T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3167T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3167T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3167T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3245T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3044T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3038T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3035T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2981T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2981T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2981T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2981T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2981T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2912T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2912T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2912T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2912T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2867T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2867T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2864T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2867T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2744T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2360T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2360T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3248T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000218344Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 11, 2024) 		germlineclinical testing

Citation Link,

SCV000688427Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 21, 2023) 		germlineclinical testing

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

SCV003848997University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

Help

Summary from all submissions

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

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000218344.8

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

Description

The p.M1083T variant (also known as c.3248T>C), located in coding exon 9 of the BRCA1 gene, results from a T to C substitution at nucleotide position 3248. The methionine at codon 1083 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From Color Diagnostics, LLC DBA Color Health, SCV000688427.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This missense variant replaces methionine with threonine at codon 1083 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. A multifactorial analysis has reported likelihood ratios for pathogenicity of 1.0331 and 1.6021 based on co-occurrence and family history, respectively (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003848997.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

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

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

Last Updated: Sep 29, 2024