NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) AND not provided

Germline classification:: Benign (4 submissions)
Last evaluated:: Aug 21, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000034740.22

Allele description [Variation Report for NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)]

NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)

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.3296C>T (p.Pro1099Leu)

Other names:

p.P1099L:CCT>CTT; 3415C>T

HGVS:

NC_000017.11:g.43092235G>A
NG_005905.2:g.125749C>T
NG_087068.1:g.1217G>A
NM_001407571.1:c.3083C>T
NM_001407581.1:c.3296C>T
NM_001407582.1:c.3296C>T
NM_001407583.1:c.3296C>T
NM_001407585.1:c.3296C>T
NM_001407587.1:c.3293C>T
NM_001407590.1:c.3293C>T
NM_001407591.1:c.3293C>T
NM_001407593.1:c.3296C>T
NM_001407594.1:c.3296C>T
NM_001407596.1:c.3296C>T
NM_001407597.1:c.3296C>T
NM_001407598.1:c.3296C>T
NM_001407602.1:c.3296C>T
NM_001407603.1:c.3296C>T
NM_001407605.1:c.3296C>T
NM_001407610.1:c.3293C>T
NM_001407611.1:c.3293C>T
NM_001407612.1:c.3293C>T
NM_001407613.1:c.3293C>T
NM_001407614.1:c.3293C>T
NM_001407615.1:c.3293C>T
NM_001407616.1:c.3296C>T
NM_001407617.1:c.3296C>T
NM_001407618.1:c.3296C>T
NM_001407619.1:c.3296C>T
NM_001407620.1:c.3296C>T
NM_001407621.1:c.3296C>T
NM_001407622.1:c.3296C>T
NM_001407623.1:c.3296C>T
NM_001407624.1:c.3296C>T
NM_001407625.1:c.3296C>T
NM_001407626.1:c.3296C>T
NM_001407627.1:c.3293C>T
NM_001407628.1:c.3293C>T
NM_001407629.1:c.3293C>T
NM_001407630.1:c.3293C>T
NM_001407631.1:c.3293C>T
NM_001407632.1:c.3293C>T
NM_001407633.1:c.3293C>T
NM_001407634.1:c.3293C>T
NM_001407635.1:c.3293C>T
NM_001407636.1:c.3293C>T
NM_001407637.1:c.3293C>T
NM_001407638.1:c.3293C>T
NM_001407639.1:c.3296C>T
NM_001407640.1:c.3296C>T
NM_001407641.1:c.3296C>T
NM_001407642.1:c.3296C>T
NM_001407644.1:c.3293C>T
NM_001407645.1:c.3293C>T
NM_001407646.1:c.3287C>T
NM_001407647.1:c.3287C>T
NM_001407648.1:c.3173C>T
NM_001407649.1:c.3170C>T
NM_001407652.1:c.3296C>T
NM_001407653.1:c.3218C>T
NM_001407654.1:c.3218C>T
NM_001407655.1:c.3218C>T
NM_001407656.1:c.3218C>T
NM_001407657.1:c.3218C>T
NM_001407658.1:c.3218C>T
NM_001407659.1:c.3215C>T
NM_001407660.1:c.3215C>T
NM_001407661.1:c.3215C>T
NM_001407662.1:c.3215C>T
NM_001407663.1:c.3218C>T
NM_001407664.1:c.3173C>T
NM_001407665.1:c.3173C>T
NM_001407666.1:c.3173C>T
NM_001407667.1:c.3173C>T
NM_001407668.1:c.3173C>T
NM_001407669.1:c.3173C>T
NM_001407670.1:c.3170C>T
NM_001407671.1:c.3170C>T
NM_001407672.1:c.3170C>T
NM_001407673.1:c.3170C>T
NM_001407674.1:c.3173C>T
NM_001407675.1:c.3173C>T
NM_001407676.1:c.3173C>T
NM_001407677.1:c.3173C>T
NM_001407678.1:c.3173C>T
NM_001407679.1:c.3173C>T
NM_001407680.1:c.3173C>T
NM_001407681.1:c.3173C>T
NM_001407682.1:c.3173C>T
NM_001407683.1:c.3173C>T
NM_001407684.1:c.3296C>T
NM_001407685.1:c.3170C>T
NM_001407686.1:c.3170C>T
NM_001407687.1:c.3170C>T
NM_001407688.1:c.3170C>T
NM_001407689.1:c.3170C>T
NM_001407690.1:c.3170C>T
NM_001407691.1:c.3170C>T
NM_001407692.1:c.3155C>T
NM_001407694.1:c.3155C>T
NM_001407695.1:c.3155C>T
NM_001407696.1:c.3155C>T
NM_001407697.1:c.3155C>T
NM_001407698.1:c.3155C>T
NM_001407724.1:c.3155C>T
NM_001407725.1:c.3155C>T
NM_001407726.1:c.3155C>T
NM_001407727.1:c.3155C>T
NM_001407728.1:c.3155C>T
NM_001407729.1:c.3155C>T
NM_001407730.1:c.3155C>T
NM_001407731.1:c.3155C>T
NM_001407732.1:c.3155C>T
NM_001407733.1:c.3155C>T
NM_001407734.1:c.3155C>T
NM_001407735.1:c.3155C>T
NM_001407736.1:c.3155C>T
NM_001407737.1:c.3155C>T
NM_001407738.1:c.3155C>T
NM_001407739.1:c.3155C>T
NM_001407740.1:c.3152C>T
NM_001407741.1:c.3152C>T
NM_001407742.1:c.3152C>T
NM_001407743.1:c.3152C>T
NM_001407744.1:c.3152C>T
NM_001407745.1:c.3152C>T
NM_001407746.1:c.3152C>T
NM_001407747.1:c.3152C>T
NM_001407748.1:c.3152C>T
NM_001407749.1:c.3152C>T
NM_001407750.1:c.3155C>T
NM_001407751.1:c.3155C>T
NM_001407752.1:c.3155C>T
NM_001407838.1:c.3152C>T
NM_001407839.1:c.3152C>T
NM_001407841.1:c.3152C>T
NM_001407842.1:c.3152C>T
NM_001407843.1:c.3152C>T
NM_001407844.1:c.3152C>T
NM_001407845.1:c.3152C>T
NM_001407846.1:c.3152C>T
NM_001407847.1:c.3152C>T
NM_001407848.1:c.3152C>T
NM_001407849.1:c.3152C>T
NM_001407850.1:c.3155C>T
NM_001407851.1:c.3155C>T
NM_001407852.1:c.3155C>T
NM_001407853.1:c.3083C>T
NM_001407854.1:c.3296C>T
NM_001407858.1:c.3296C>T
NM_001407859.1:c.3296C>T
NM_001407860.1:c.3293C>T
NM_001407861.1:c.3293C>T
NM_001407862.1:c.3095C>T
NM_001407863.1:c.3173C>T
NM_001407874.1:c.3092C>T
NM_001407875.1:c.3092C>T
NM_001407879.1:c.3086C>T
NM_001407881.1:c.3086C>T
NM_001407882.1:c.3086C>T
NM_001407884.1:c.3086C>T
NM_001407885.1:c.3086C>T
NM_001407886.1:c.3086C>T
NM_001407887.1:c.3086C>T
NM_001407889.1:c.3086C>T
NM_001407894.1:c.3083C>T
NM_001407895.1:c.3083C>T
NM_001407896.1:c.3083C>T
NM_001407897.1:c.3083C>T
NM_001407898.1:c.3083C>T
NM_001407899.1:c.3083C>T
NM_001407900.1:c.3086C>T
NM_001407902.1:c.3086C>T
NM_001407904.1:c.3086C>T
NM_001407906.1:c.3086C>T
NM_001407907.1:c.3086C>T
NM_001407908.1:c.3086C>T
NM_001407909.1:c.3086C>T
NM_001407910.1:c.3086C>T
NM_001407915.1:c.3083C>T
NM_001407916.1:c.3083C>T
NM_001407917.1:c.3083C>T
NM_001407918.1:c.3083C>T
NM_001407919.1:c.3173C>T
NM_001407920.1:c.3032C>T
NM_001407921.1:c.3032C>T
NM_001407922.1:c.3032C>T
NM_001407923.1:c.3032C>T
NM_001407924.1:c.3032C>T
NM_001407925.1:c.3032C>T
NM_001407926.1:c.3032C>T
NM_001407927.1:c.3032C>T
NM_001407928.1:c.3032C>T
NM_001407929.1:c.3032C>T
NM_001407930.1:c.3029C>T
NM_001407931.1:c.3029C>T
NM_001407932.1:c.3029C>T
NM_001407933.1:c.3032C>T
NM_001407934.1:c.3029C>T
NM_001407935.1:c.3032C>T
NM_001407936.1:c.3029C>T
NM_001407937.1:c.3173C>T
NM_001407938.1:c.3173C>T
NM_001407939.1:c.3173C>T
NM_001407940.1:c.3170C>T
NM_001407941.1:c.3170C>T
NM_001407942.1:c.3155C>T
NM_001407943.1:c.3152C>T
NM_001407944.1:c.3155C>T
NM_001407945.1:c.3155C>T
NM_001407946.1:c.2963C>T
NM_001407947.1:c.2963C>T
NM_001407948.1:c.2963C>T
NM_001407949.1:c.2963C>T
NM_001407950.1:c.2963C>T
NM_001407951.1:c.2963C>T
NM_001407952.1:c.2963C>T
NM_001407953.1:c.2963C>T
NM_001407954.1:c.2960C>T
NM_001407955.1:c.2960C>T
NM_001407956.1:c.2960C>T
NM_001407957.1:c.2963C>T
NM_001407958.1:c.2960C>T
NM_001407959.1:c.2915C>T
NM_001407960.1:c.2915C>T
NM_001407962.1:c.2912C>T
NM_001407963.1:c.2915C>T
NM_001407964.1:c.3152C>T
NM_001407965.1:c.2792C>T
NM_001407966.1:c.2408C>T
NM_001407967.1:c.2408C>T
NM_001407968.1:c.788-96C>T
NM_001407969.1:c.788-96C>T
NM_001407970.1:c.788-1203C>T
NM_001407971.1:c.788-1203C>T
NM_001407972.1:c.785-1203C>T
NM_001407973.1:c.788-1203C>T
NM_001407974.1:c.788-1203C>T
NM_001407975.1:c.788-1203C>T
NM_001407976.1:c.788-1203C>T
NM_001407977.1:c.788-1203C>T
NM_001407978.1:c.788-1203C>T
NM_001407979.1:c.788-1203C>T
NM_001407980.1:c.788-1203C>T
NM_001407981.1:c.788-1203C>T
NM_001407982.1:c.788-1203C>T
NM_001407983.1:c.788-1203C>T
NM_001407984.1:c.785-1203C>T
NM_001407985.1:c.785-1203C>T
NM_001407986.1:c.785-1203C>T
NM_001407990.1:c.788-1203C>T
NM_001407991.1:c.785-1203C>T
NM_001407992.1:c.785-1203C>T
NM_001407993.1:c.788-1203C>T
NM_001408392.1:c.785-1203C>T
NM_001408396.1:c.785-1203C>T
NM_001408397.1:c.785-1203C>T
NM_001408398.1:c.785-1203C>T
NM_001408399.1:c.785-1203C>T
NM_001408400.1:c.785-1203C>T
NM_001408401.1:c.785-1203C>T
NM_001408402.1:c.785-1203C>T
NM_001408403.1:c.788-1203C>T
NM_001408404.1:c.788-1203C>T
NM_001408406.1:c.791-1212C>T
NM_001408407.1:c.785-1203C>T
NM_001408408.1:c.779-1203C>T
NM_001408409.1:c.710-1203C>T
NM_001408410.1:c.647-1203C>T
NM_001408411.1:c.710-1203C>T
NM_001408412.1:c.710-1203C>T
NM_001408413.1:c.707-1203C>T
NM_001408414.1:c.710-1203C>T
NM_001408415.1:c.710-1203C>T
NM_001408416.1:c.707-1203C>T
NM_001408418.1:c.671-1203C>T
NM_001408419.1:c.671-1203C>T
NM_001408420.1:c.671-1203C>T
NM_001408421.1:c.668-1203C>T
NM_001408422.1:c.671-1203C>T
NM_001408423.1:c.671-1203C>T
NM_001408424.1:c.668-1203C>T
NM_001408425.1:c.665-1203C>T
NM_001408426.1:c.665-1203C>T
NM_001408427.1:c.665-1203C>T
NM_001408428.1:c.665-1203C>T
NM_001408429.1:c.665-1203C>T
NM_001408430.1:c.665-1203C>T
NM_001408431.1:c.668-1203C>T
NM_001408432.1:c.662-1203C>T
NM_001408433.1:c.662-1203C>T
NM_001408434.1:c.662-1203C>T
NM_001408435.1:c.662-1203C>T
NM_001408436.1:c.665-1203C>T
NM_001408437.1:c.665-1203C>T
NM_001408438.1:c.665-1203C>T
NM_001408439.1:c.665-1203C>T
NM_001408440.1:c.665-1203C>T
NM_001408441.1:c.665-1203C>T
NM_001408442.1:c.665-1203C>T
NM_001408443.1:c.665-1203C>T
NM_001408444.1:c.665-1203C>T
NM_001408445.1:c.662-1203C>T
NM_001408446.1:c.662-1203C>T
NM_001408447.1:c.662-1203C>T
NM_001408448.1:c.662-1203C>T
NM_001408450.1:c.662-1203C>T
NM_001408451.1:c.653-1203C>T
NM_001408452.1:c.647-1203C>T
NM_001408453.1:c.647-1203C>T
NM_001408454.1:c.647-1203C>T
NM_001408455.1:c.647-1203C>T
NM_001408456.1:c.647-1203C>T
NM_001408457.1:c.647-1203C>T
NM_001408458.1:c.647-1203C>T
NM_001408459.1:c.647-1203C>T
NM_001408460.1:c.647-1203C>T
NM_001408461.1:c.647-1203C>T
NM_001408462.1:c.644-1203C>T
NM_001408463.1:c.644-1203C>T
NM_001408464.1:c.644-1203C>T
NM_001408465.1:c.644-1203C>T
NM_001408466.1:c.647-1203C>T
NM_001408467.1:c.647-1203C>T
NM_001408468.1:c.644-1203C>T
NM_001408469.1:c.647-1203C>T
NM_001408470.1:c.644-1203C>T
NM_001408472.1:c.788-1203C>T
NM_001408473.1:c.785-1203C>T
NM_001408474.1:c.587-1203C>T
NM_001408475.1:c.584-1203C>T
NM_001408476.1:c.587-1203C>T
NM_001408478.1:c.578-1203C>T
NM_001408479.1:c.578-1203C>T
NM_001408480.1:c.578-1203C>T
NM_001408481.1:c.578-1203C>T
NM_001408482.1:c.578-1203C>T
NM_001408483.1:c.578-1203C>T
NM_001408484.1:c.578-1203C>T
NM_001408485.1:c.578-1203C>T
NM_001408489.1:c.578-1203C>T
NM_001408490.1:c.575-1203C>T
NM_001408491.1:c.575-1203C>T
NM_001408492.1:c.578-1203C>T
NM_001408493.1:c.575-1203C>T
NM_001408494.1:c.548-1203C>T
NM_001408495.1:c.545-1203C>T
NM_001408496.1:c.524-1203C>T
NM_001408497.1:c.524-1203C>T
NM_001408498.1:c.524-1203C>T
NM_001408499.1:c.524-1203C>T
NM_001408500.1:c.524-1203C>T
NM_001408501.1:c.524-1203C>T
NM_001408502.1:c.455-1203C>T
NM_001408503.1:c.521-1203C>T
NM_001408504.1:c.521-1203C>T
NM_001408505.1:c.521-1203C>T
NM_001408506.1:c.461-1203C>T
NM_001408507.1:c.461-1203C>T
NM_001408508.1:c.452-1203C>T
NM_001408509.1:c.452-1203C>T
NM_001408510.1:c.407-1203C>T
NM_001408511.1:c.404-1203C>T
NM_001408512.1:c.284-1203C>T
NM_001408513.1:c.578-1203C>T
NM_001408514.1:c.578-1203C>T
NM_007294.4:c.3296C>TMANE SELECT
NM_007297.4:c.3155C>T
NM_007298.4:c.788-1203C>T
NM_007299.4:c.788-1203C>T
NM_007300.4:c.3296C>T
NP_001394500.1:p.Pro1028Leu
NP_001394510.1:p.Pro1099Leu
NP_001394511.1:p.Pro1099Leu
NP_001394512.1:p.Pro1099Leu
NP_001394514.1:p.Pro1099Leu
NP_001394516.1:p.Pro1098Leu
NP_001394519.1:p.Pro1098Leu
NP_001394520.1:p.Pro1098Leu
NP_001394522.1:p.Pro1099Leu
NP_001394523.1:p.Pro1099Leu
NP_001394525.1:p.Pro1099Leu
NP_001394526.1:p.Pro1099Leu
NP_001394527.1:p.Pro1099Leu
NP_001394531.1:p.Pro1099Leu
NP_001394532.1:p.Pro1099Leu
NP_001394534.1:p.Pro1099Leu
NP_001394539.1:p.Pro1098Leu
NP_001394540.1:p.Pro1098Leu
NP_001394541.1:p.Pro1098Leu
NP_001394542.1:p.Pro1098Leu
NP_001394543.1:p.Pro1098Leu
NP_001394544.1:p.Pro1098Leu
NP_001394545.1:p.Pro1099Leu
NP_001394546.1:p.Pro1099Leu
NP_001394547.1:p.Pro1099Leu
NP_001394548.1:p.Pro1099Leu
NP_001394549.1:p.Pro1099Leu
NP_001394550.1:p.Pro1099Leu
NP_001394551.1:p.Pro1099Leu
NP_001394552.1:p.Pro1099Leu
NP_001394553.1:p.Pro1099Leu
NP_001394554.1:p.Pro1099Leu
NP_001394555.1:p.Pro1099Leu
NP_001394556.1:p.Pro1098Leu
NP_001394557.1:p.Pro1098Leu
NP_001394558.1:p.Pro1098Leu
NP_001394559.1:p.Pro1098Leu
NP_001394560.1:p.Pro1098Leu
NP_001394561.1:p.Pro1098Leu
NP_001394562.1:p.Pro1098Leu
NP_001394563.1:p.Pro1098Leu
NP_001394564.1:p.Pro1098Leu
NP_001394565.1:p.Pro1098Leu
NP_001394566.1:p.Pro1098Leu
NP_001394567.1:p.Pro1098Leu
NP_001394568.1:p.Pro1099Leu
NP_001394569.1:p.Pro1099Leu
NP_001394570.1:p.Pro1099Leu
NP_001394571.1:p.Pro1099Leu
NP_001394573.1:p.Pro1098Leu
NP_001394574.1:p.Pro1098Leu
NP_001394575.1:p.Pro1096Leu
NP_001394576.1:p.Pro1096Leu
NP_001394577.1:p.Pro1058Leu
NP_001394578.1:p.Pro1057Leu
NP_001394581.1:p.Pro1099Leu
NP_001394582.1:p.Pro1073Leu
NP_001394583.1:p.Pro1073Leu
NP_001394584.1:p.Pro1073Leu
NP_001394585.1:p.Pro1073Leu
NP_001394586.1:p.Pro1073Leu
NP_001394587.1:p.Pro1073Leu
NP_001394588.1:p.Pro1072Leu
NP_001394589.1:p.Pro1072Leu
NP_001394590.1:p.Pro1072Leu
NP_001394591.1:p.Pro1072Leu
NP_001394592.1:p.Pro1073Leu
NP_001394593.1:p.Pro1058Leu
NP_001394594.1:p.Pro1058Leu
NP_001394595.1:p.Pro1058Leu
NP_001394596.1:p.Pro1058Leu
NP_001394597.1:p.Pro1058Leu
NP_001394598.1:p.Pro1058Leu
NP_001394599.1:p.Pro1057Leu
NP_001394600.1:p.Pro1057Leu
NP_001394601.1:p.Pro1057Leu
NP_001394602.1:p.Pro1057Leu
NP_001394603.1:p.Pro1058Leu
NP_001394604.1:p.Pro1058Leu
NP_001394605.1:p.Pro1058Leu
NP_001394606.1:p.Pro1058Leu
NP_001394607.1:p.Pro1058Leu
NP_001394608.1:p.Pro1058Leu
NP_001394609.1:p.Pro1058Leu
NP_001394610.1:p.Pro1058Leu
NP_001394611.1:p.Pro1058Leu
NP_001394612.1:p.Pro1058Leu
NP_001394613.1:p.Pro1099Leu
NP_001394614.1:p.Pro1057Leu
NP_001394615.1:p.Pro1057Leu
NP_001394616.1:p.Pro1057Leu
NP_001394617.1:p.Pro1057Leu
NP_001394618.1:p.Pro1057Leu
NP_001394619.1:p.Pro1057Leu
NP_001394620.1:p.Pro1057Leu
NP_001394621.1:p.Pro1052Leu
NP_001394623.1:p.Pro1052Leu
NP_001394624.1:p.Pro1052Leu
NP_001394625.1:p.Pro1052Leu
NP_001394626.1:p.Pro1052Leu
NP_001394627.1:p.Pro1052Leu
NP_001394653.1:p.Pro1052Leu
NP_001394654.1:p.Pro1052Leu
NP_001394655.1:p.Pro1052Leu
NP_001394656.1:p.Pro1052Leu
NP_001394657.1:p.Pro1052Leu
NP_001394658.1:p.Pro1052Leu
NP_001394659.1:p.Pro1052Leu
NP_001394660.1:p.Pro1052Leu
NP_001394661.1:p.Pro1052Leu
NP_001394662.1:p.Pro1052Leu
NP_001394663.1:p.Pro1052Leu
NP_001394664.1:p.Pro1052Leu
NP_001394665.1:p.Pro1052Leu
NP_001394666.1:p.Pro1052Leu
NP_001394667.1:p.Pro1052Leu
NP_001394668.1:p.Pro1052Leu
NP_001394669.1:p.Pro1051Leu
NP_001394670.1:p.Pro1051Leu
NP_001394671.1:p.Pro1051Leu
NP_001394672.1:p.Pro1051Leu
NP_001394673.1:p.Pro1051Leu
NP_001394674.1:p.Pro1051Leu
NP_001394675.1:p.Pro1051Leu
NP_001394676.1:p.Pro1051Leu
NP_001394677.1:p.Pro1051Leu
NP_001394678.1:p.Pro1051Leu
NP_001394679.1:p.Pro1052Leu
NP_001394680.1:p.Pro1052Leu
NP_001394681.1:p.Pro1052Leu
NP_001394767.1:p.Pro1051Leu
NP_001394768.1:p.Pro1051Leu
NP_001394770.1:p.Pro1051Leu
NP_001394771.1:p.Pro1051Leu
NP_001394772.1:p.Pro1051Leu
NP_001394773.1:p.Pro1051Leu
NP_001394774.1:p.Pro1051Leu
NP_001394775.1:p.Pro1051Leu
NP_001394776.1:p.Pro1051Leu
NP_001394777.1:p.Pro1051Leu
NP_001394778.1:p.Pro1051Leu
NP_001394779.1:p.Pro1052Leu
NP_001394780.1:p.Pro1052Leu
NP_001394781.1:p.Pro1052Leu
NP_001394782.1:p.Pro1028Leu
NP_001394783.1:p.Pro1099Leu
NP_001394787.1:p.Pro1099Leu
NP_001394788.1:p.Pro1099Leu
NP_001394789.1:p.Pro1098Leu
NP_001394790.1:p.Pro1098Leu
NP_001394791.1:p.Pro1032Leu
NP_001394792.1:p.Pro1058Leu
NP_001394803.1:p.Pro1031Leu
NP_001394804.1:p.Pro1031Leu
NP_001394808.1:p.Pro1029Leu
NP_001394810.1:p.Pro1029Leu
NP_001394811.1:p.Pro1029Leu
NP_001394813.1:p.Pro1029Leu
NP_001394814.1:p.Pro1029Leu
NP_001394815.1:p.Pro1029Leu
NP_001394816.1:p.Pro1029Leu
NP_001394818.1:p.Pro1029Leu
NP_001394823.1:p.Pro1028Leu
NP_001394824.1:p.Pro1028Leu
NP_001394825.1:p.Pro1028Leu
NP_001394826.1:p.Pro1028Leu
NP_001394827.1:p.Pro1028Leu
NP_001394828.1:p.Pro1028Leu
NP_001394829.1:p.Pro1029Leu
NP_001394831.1:p.Pro1029Leu
NP_001394833.1:p.Pro1029Leu
NP_001394835.1:p.Pro1029Leu
NP_001394836.1:p.Pro1029Leu
NP_001394837.1:p.Pro1029Leu
NP_001394838.1:p.Pro1029Leu
NP_001394839.1:p.Pro1029Leu
NP_001394844.1:p.Pro1028Leu
NP_001394845.1:p.Pro1028Leu
NP_001394846.1:p.Pro1028Leu
NP_001394847.1:p.Pro1028Leu
NP_001394848.1:p.Pro1058Leu
NP_001394849.1:p.Pro1011Leu
NP_001394850.1:p.Pro1011Leu
NP_001394851.1:p.Pro1011Leu
NP_001394852.1:p.Pro1011Leu
NP_001394853.1:p.Pro1011Leu
NP_001394854.1:p.Pro1011Leu
NP_001394855.1:p.Pro1011Leu
NP_001394856.1:p.Pro1011Leu
NP_001394857.1:p.Pro1011Leu
NP_001394858.1:p.Pro1011Leu
NP_001394859.1:p.Pro1010Leu
NP_001394860.1:p.Pro1010Leu
NP_001394861.1:p.Pro1010Leu
NP_001394862.1:p.Pro1011Leu
NP_001394863.1:p.Pro1010Leu
NP_001394864.1:p.Pro1011Leu
NP_001394865.1:p.Pro1010Leu
NP_001394866.1:p.Pro1058Leu
NP_001394867.1:p.Pro1058Leu
NP_001394868.1:p.Pro1058Leu
NP_001394869.1:p.Pro1057Leu
NP_001394870.1:p.Pro1057Leu
NP_001394871.1:p.Pro1052Leu
NP_001394872.1:p.Pro1051Leu
NP_001394873.1:p.Pro1052Leu
NP_001394874.1:p.Pro1052Leu
NP_001394875.1:p.Pro988Leu
NP_001394876.1:p.Pro988Leu
NP_001394877.1:p.Pro988Leu
NP_001394878.1:p.Pro988Leu
NP_001394879.1:p.Pro988Leu
NP_001394880.1:p.Pro988Leu
NP_001394881.1:p.Pro988Leu
NP_001394882.1:p.Pro988Leu
NP_001394883.1:p.Pro987Leu
NP_001394884.1:p.Pro987Leu
NP_001394885.1:p.Pro987Leu
NP_001394886.1:p.Pro988Leu
NP_001394887.1:p.Pro987Leu
NP_001394888.1:p.Pro972Leu
NP_001394889.1:p.Pro972Leu
NP_001394891.1:p.Pro971Leu
NP_001394892.1:p.Pro972Leu
NP_001394893.1:p.Pro1051Leu
NP_001394894.1:p.Pro931Leu
NP_001394895.1:p.Pro803Leu
NP_001394896.1:p.Pro803Leu
NP_009225.1:p.Pro1099Leu
NP_009225.1:p.Pro1099Leu
NP_009228.2:p.Pro1052Leu
NP_009231.2:p.Pro1099Leu
LRG_292t1:c.3296C>T
LRG_292:g.125749C>T
LRG_292p1:p.Pro1099Leu
NC_000017.10:g.41244252G>A
NM_007294.3:c.3296C>T
NM_007297.3:c.3155C>T
NM_007300.3:c.3296C>T
NR_027676.1:n.3432C>T
U14680.1:n.3415C>T
p.P1099L

Protein change:

P1010L

Links:

BRCA1-HCI: BRCA1_00036; dbSNP: rs80357201

NCBI 1000 Genomes Browser:

rs80357201

Molecular consequence:

NM_001407968.1:c.788-96C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-96C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1212C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1203C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3287C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3287C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.3095C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.3092C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.3092C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.3086C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.3029C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.3029C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.3029C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.3029C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.3029C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3173C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3170C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2960C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2960C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2960C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2963C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2960C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2915C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2915C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2912C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2915C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2792C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2408C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2408C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043168	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	no assertion criteria provided	probably not pathogenic (Jul 13, 2012)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV000699016	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Mar 25, 2016)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 24504028, 22476429, 21990134, 18375895, 21520273, 16905680, 12827452, 21702907, 22753008, 16267036, 22703879, 20104584 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV001551035	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Likely benign	unknown	clinical testing
SCV002048625	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Aug 21, 2023)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	1	not provided	not provided	572	not provided	research

Citations

PubMed

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Cunningham JM, Cicek MS, Larson NB, Davila J, Wang C, Larson MC, Song H, Dicks EM, Harrington P, Wick M, Winterhoff BJ, Hamidi H, Konecny GE, Chien J, Bibikova M, Fan JB, Kalli KR, Lindor NM, Fridley BL, Pharoah PP, Goode EL.

Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.

PubMed [citation]

PMID:: 24504028
PMCID:: PMC4168524

Mutation screening of RAD51C in high-risk breast and ovarian cancer families.

Lu W, Wang X, Lin H, Lindor NM, Couch FJ.

Fam Cancer. 2012 Sep;11(3):381-5. doi: 10.1007/s10689-012-9523-9.

PubMed [citation]

PMID:: 22476429
PMCID:: PMC3418444

See all PubMed Citations (12)

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000043168.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

Description

Converted during submission to Likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	572	not provided	discovery		1	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699016.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

Description

Variant summary: The variant c.3296C>T affects a conserved nucleotide, leading to amino acid change from Pro to Leu. 3/4 in-silico tools predict this variant to be damaging, however they are not definite. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.0.00026 (32/122380 chromosomes), which does not exceed the maximal expected allele frequency for a pathogenic variant in BRCA1 (0.001). However, the frequency data should still suggest that this variant is likely to be a rare polymorphism. In reputable databases (BIC and UMD), the variant has been reported to co-occur with multiple deleterious pathogenic variants in BRCA1 (p.Glu1060Ter, c.2376_2376delG and c.798_799delTT) as well as in BRCA2 (c.4277delC and c.5353delA). In addition, the variant is also known to be present with a deleterious BRCA1 variant p.Glu1060Ter (Judkins_2005), a definite evidence for benign outcome. Multifactorial probability model studies also show the variant to have a very low probability of being deleterious. Multiple clinical laboratories, reputable databases, and literature classify this variant as benign/polymorphism. Taken all together, this variant has been classified as Benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001551035.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The BRCA1 p.Pro1099Leu variant was identified in 22 of 114568 proband chromosomes (frequency: 0.0002) from individuals or families with breast or ovarian cancer (Judkins 2005, Simard 2007, Borg 2010). The variant was also identified in the following databases: dbSNP (ID: rs80357201) as "With other allele ", ClinVar (classified as benign by Invitae, Ambry Genetics, GeneDx and 7 other submitters; as likely benign by three submitters; as uncertain significance by one submitter), MutDB, LOVD 3.0 (10x), UMD-LSDB (19x as neutral), BIC Database (23x with no clinical importance), and in ARUP Laboratories (not pathogenic or of no clinical significance). In UMD the variant was identified with a co-occurring pathogenic BRCA2 variant (c.4277delC, p.Thr1426Asns*22 and c.5353delA, p.Thr1785Leufs*6), increasing the likelihood that the p.Pro1099Leu variant does not have clinical significance. The variant was not identified in COGR, Cosmic, or Zhejiang University databases. The variant was identified in control databases in 87 of 276300 chromosomes at a frequency of 0.0003 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 3 of 6452 chromosomes (freq: 0.0005), Latino in 17 of 34400 chromosomes (freq: 0.0005), European in 30 of 126188 chromosomes (freq: 0.0002), East Asian in 1 of 18866 chromosomes (freq: 0.00005), Finnish in 14 of 25458 chromosomes (freq: 0.0006), and South Asian in 22 of 30778 chromosomes (freq: 0.0007); it was not observed in the African or Ashkenazi Jewish populations. The p.Pro1099 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. A few cancer research articles identified this variant in trans with known deleterious mutations (917delTT and E1060X) in clinical specimens, increasing the likelihood that the p.Pro1099Leu variant does not have clinical significance (Judkins 2005, Judkins 2005, Spurdle 2008). In addition, the variant was classified as neutral with probability of being deleterious is 3.09âˆšÃ³10-11 by a computational model for BRCA1 and BRCA2 variants that factored in data on segregation, co-occurrence, personal and family histories, and pathology (Lindor 2012). In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048625.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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