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NM_007294.4(BRCA1):c.2993T>A (p.Leu998Gln) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 6, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003645101.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.2993T>A (p.Leu998Gln)]

NM_007294.4(BRCA1):c.2993T>A (p.Leu998Gln)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2993T>A (p.Leu998Gln)
HGVS:
  • NC_000017.11:g.43092538A>T
  • NG_005905.2:g.125446T>A
  • NM_001407571.1:c.2780T>A
  • NM_001407581.1:c.2993T>A
  • NM_001407582.1:c.2993T>A
  • NM_001407583.1:c.2993T>A
  • NM_001407585.1:c.2993T>A
  • NM_001407587.1:c.2990T>A
  • NM_001407590.1:c.2990T>A
  • NM_001407591.1:c.2990T>A
  • NM_001407593.1:c.2993T>A
  • NM_001407594.1:c.2993T>A
  • NM_001407596.1:c.2993T>A
  • NM_001407597.1:c.2993T>A
  • NM_001407598.1:c.2993T>A
  • NM_001407602.1:c.2993T>A
  • NM_001407603.1:c.2993T>A
  • NM_001407605.1:c.2993T>A
  • NM_001407610.1:c.2990T>A
  • NM_001407611.1:c.2990T>A
  • NM_001407612.1:c.2990T>A
  • NM_001407613.1:c.2990T>A
  • NM_001407614.1:c.2990T>A
  • NM_001407615.1:c.2990T>A
  • NM_001407616.1:c.2993T>A
  • NM_001407617.1:c.2993T>A
  • NM_001407618.1:c.2993T>A
  • NM_001407619.1:c.2993T>A
  • NM_001407620.1:c.2993T>A
  • NM_001407621.1:c.2993T>A
  • NM_001407622.1:c.2993T>A
  • NM_001407623.1:c.2993T>A
  • NM_001407624.1:c.2993T>A
  • NM_001407625.1:c.2993T>A
  • NM_001407626.1:c.2993T>A
  • NM_001407627.1:c.2990T>A
  • NM_001407628.1:c.2990T>A
  • NM_001407629.1:c.2990T>A
  • NM_001407630.1:c.2990T>A
  • NM_001407631.1:c.2990T>A
  • NM_001407632.1:c.2990T>A
  • NM_001407633.1:c.2990T>A
  • NM_001407634.1:c.2990T>A
  • NM_001407635.1:c.2990T>A
  • NM_001407636.1:c.2990T>A
  • NM_001407637.1:c.2990T>A
  • NM_001407638.1:c.2990T>A
  • NM_001407639.1:c.2993T>A
  • NM_001407640.1:c.2993T>A
  • NM_001407641.1:c.2993T>A
  • NM_001407642.1:c.2993T>A
  • NM_001407644.1:c.2990T>A
  • NM_001407645.1:c.2990T>A
  • NM_001407646.1:c.2984T>A
  • NM_001407647.1:c.2984T>A
  • NM_001407648.1:c.2870T>A
  • NM_001407649.1:c.2867T>A
  • NM_001407652.1:c.2993T>A
  • NM_001407653.1:c.2915T>A
  • NM_001407654.1:c.2915T>A
  • NM_001407655.1:c.2915T>A
  • NM_001407656.1:c.2915T>A
  • NM_001407657.1:c.2915T>A
  • NM_001407658.1:c.2915T>A
  • NM_001407659.1:c.2912T>A
  • NM_001407660.1:c.2912T>A
  • NM_001407661.1:c.2912T>A
  • NM_001407662.1:c.2912T>A
  • NM_001407663.1:c.2915T>A
  • NM_001407664.1:c.2870T>A
  • NM_001407665.1:c.2870T>A
  • NM_001407666.1:c.2870T>A
  • NM_001407667.1:c.2870T>A
  • NM_001407668.1:c.2870T>A
  • NM_001407669.1:c.2870T>A
  • NM_001407670.1:c.2867T>A
  • NM_001407671.1:c.2867T>A
  • NM_001407672.1:c.2867T>A
  • NM_001407673.1:c.2867T>A
  • NM_001407674.1:c.2870T>A
  • NM_001407675.1:c.2870T>A
  • NM_001407676.1:c.2870T>A
  • NM_001407677.1:c.2870T>A
  • NM_001407678.1:c.2870T>A
  • NM_001407679.1:c.2870T>A
  • NM_001407680.1:c.2870T>A
  • NM_001407681.1:c.2870T>A
  • NM_001407682.1:c.2870T>A
  • NM_001407683.1:c.2870T>A
  • NM_001407684.1:c.2993T>A
  • NM_001407685.1:c.2867T>A
  • NM_001407686.1:c.2867T>A
  • NM_001407687.1:c.2867T>A
  • NM_001407688.1:c.2867T>A
  • NM_001407689.1:c.2867T>A
  • NM_001407690.1:c.2867T>A
  • NM_001407691.1:c.2867T>A
  • NM_001407692.1:c.2852T>A
  • NM_001407694.1:c.2852T>A
  • NM_001407695.1:c.2852T>A
  • NM_001407696.1:c.2852T>A
  • NM_001407697.1:c.2852T>A
  • NM_001407698.1:c.2852T>A
  • NM_001407724.1:c.2852T>A
  • NM_001407725.1:c.2852T>A
  • NM_001407726.1:c.2852T>A
  • NM_001407727.1:c.2852T>A
  • NM_001407728.1:c.2852T>A
  • NM_001407729.1:c.2852T>A
  • NM_001407730.1:c.2852T>A
  • NM_001407731.1:c.2852T>A
  • NM_001407732.1:c.2852T>A
  • NM_001407733.1:c.2852T>A
  • NM_001407734.1:c.2852T>A
  • NM_001407735.1:c.2852T>A
  • NM_001407736.1:c.2852T>A
  • NM_001407737.1:c.2852T>A
  • NM_001407738.1:c.2852T>A
  • NM_001407739.1:c.2852T>A
  • NM_001407740.1:c.2849T>A
  • NM_001407741.1:c.2849T>A
  • NM_001407742.1:c.2849T>A
  • NM_001407743.1:c.2849T>A
  • NM_001407744.1:c.2849T>A
  • NM_001407745.1:c.2849T>A
  • NM_001407746.1:c.2849T>A
  • NM_001407747.1:c.2849T>A
  • NM_001407748.1:c.2849T>A
  • NM_001407749.1:c.2849T>A
  • NM_001407750.1:c.2852T>A
  • NM_001407751.1:c.2852T>A
  • NM_001407752.1:c.2852T>A
  • NM_001407838.1:c.2849T>A
  • NM_001407839.1:c.2849T>A
  • NM_001407841.1:c.2849T>A
  • NM_001407842.1:c.2849T>A
  • NM_001407843.1:c.2849T>A
  • NM_001407844.1:c.2849T>A
  • NM_001407845.1:c.2849T>A
  • NM_001407846.1:c.2849T>A
  • NM_001407847.1:c.2849T>A
  • NM_001407848.1:c.2849T>A
  • NM_001407849.1:c.2849T>A
  • NM_001407850.1:c.2852T>A
  • NM_001407851.1:c.2852T>A
  • NM_001407852.1:c.2852T>A
  • NM_001407853.1:c.2780T>A
  • NM_001407854.1:c.2993T>A
  • NM_001407858.1:c.2993T>A
  • NM_001407859.1:c.2993T>A
  • NM_001407860.1:c.2990T>A
  • NM_001407861.1:c.2990T>A
  • NM_001407862.1:c.2792T>A
  • NM_001407863.1:c.2870T>A
  • NM_001407874.1:c.2789T>A
  • NM_001407875.1:c.2789T>A
  • NM_001407879.1:c.2783T>A
  • NM_001407881.1:c.2783T>A
  • NM_001407882.1:c.2783T>A
  • NM_001407884.1:c.2783T>A
  • NM_001407885.1:c.2783T>A
  • NM_001407886.1:c.2783T>A
  • NM_001407887.1:c.2783T>A
  • NM_001407889.1:c.2783T>A
  • NM_001407894.1:c.2780T>A
  • NM_001407895.1:c.2780T>A
  • NM_001407896.1:c.2780T>A
  • NM_001407897.1:c.2780T>A
  • NM_001407898.1:c.2780T>A
  • NM_001407899.1:c.2780T>A
  • NM_001407900.1:c.2783T>A
  • NM_001407902.1:c.2783T>A
  • NM_001407904.1:c.2783T>A
  • NM_001407906.1:c.2783T>A
  • NM_001407907.1:c.2783T>A
  • NM_001407908.1:c.2783T>A
  • NM_001407909.1:c.2783T>A
  • NM_001407910.1:c.2783T>A
  • NM_001407915.1:c.2780T>A
  • NM_001407916.1:c.2780T>A
  • NM_001407917.1:c.2780T>A
  • NM_001407918.1:c.2780T>A
  • NM_001407919.1:c.2870T>A
  • NM_001407920.1:c.2729T>A
  • NM_001407921.1:c.2729T>A
  • NM_001407922.1:c.2729T>A
  • NM_001407923.1:c.2729T>A
  • NM_001407924.1:c.2729T>A
  • NM_001407925.1:c.2729T>A
  • NM_001407926.1:c.2729T>A
  • NM_001407927.1:c.2729T>A
  • NM_001407928.1:c.2729T>A
  • NM_001407929.1:c.2729T>A
  • NM_001407930.1:c.2726T>A
  • NM_001407931.1:c.2726T>A
  • NM_001407932.1:c.2726T>A
  • NM_001407933.1:c.2729T>A
  • NM_001407934.1:c.2726T>A
  • NM_001407935.1:c.2729T>A
  • NM_001407936.1:c.2726T>A
  • NM_001407937.1:c.2870T>A
  • NM_001407938.1:c.2870T>A
  • NM_001407939.1:c.2870T>A
  • NM_001407940.1:c.2867T>A
  • NM_001407941.1:c.2867T>A
  • NM_001407942.1:c.2852T>A
  • NM_001407943.1:c.2849T>A
  • NM_001407944.1:c.2852T>A
  • NM_001407945.1:c.2852T>A
  • NM_001407946.1:c.2660T>A
  • NM_001407947.1:c.2660T>A
  • NM_001407948.1:c.2660T>A
  • NM_001407949.1:c.2660T>A
  • NM_001407950.1:c.2660T>A
  • NM_001407951.1:c.2660T>A
  • NM_001407952.1:c.2660T>A
  • NM_001407953.1:c.2660T>A
  • NM_001407954.1:c.2657T>A
  • NM_001407955.1:c.2657T>A
  • NM_001407956.1:c.2657T>A
  • NM_001407957.1:c.2660T>A
  • NM_001407958.1:c.2657T>A
  • NM_001407959.1:c.2612T>A
  • NM_001407960.1:c.2612T>A
  • NM_001407962.1:c.2609T>A
  • NM_001407963.1:c.2612T>A
  • NM_001407964.1:c.2849T>A
  • NM_001407965.1:c.2489T>A
  • NM_001407966.1:c.2105T>A
  • NM_001407967.1:c.2105T>A
  • NM_001407968.1:c.788-399T>A
  • NM_001407969.1:c.788-399T>A
  • NM_001407970.1:c.788-1506T>A
  • NM_001407971.1:c.788-1506T>A
  • NM_001407972.1:c.785-1506T>A
  • NM_001407973.1:c.788-1506T>A
  • NM_001407974.1:c.788-1506T>A
  • NM_001407975.1:c.788-1506T>A
  • NM_001407976.1:c.788-1506T>A
  • NM_001407977.1:c.788-1506T>A
  • NM_001407978.1:c.788-1506T>A
  • NM_001407979.1:c.788-1506T>A
  • NM_001407980.1:c.788-1506T>A
  • NM_001407981.1:c.788-1506T>A
  • NM_001407982.1:c.788-1506T>A
  • NM_001407983.1:c.788-1506T>A
  • NM_001407984.1:c.785-1506T>A
  • NM_001407985.1:c.785-1506T>A
  • NM_001407986.1:c.785-1506T>A
  • NM_001407990.1:c.788-1506T>A
  • NM_001407991.1:c.785-1506T>A
  • NM_001407992.1:c.785-1506T>A
  • NM_001407993.1:c.788-1506T>A
  • NM_001408392.1:c.785-1506T>A
  • NM_001408396.1:c.785-1506T>A
  • NM_001408397.1:c.785-1506T>A
  • NM_001408398.1:c.785-1506T>A
  • NM_001408399.1:c.785-1506T>A
  • NM_001408400.1:c.785-1506T>A
  • NM_001408401.1:c.785-1506T>A
  • NM_001408402.1:c.785-1506T>A
  • NM_001408403.1:c.788-1506T>A
  • NM_001408404.1:c.788-1506T>A
  • NM_001408406.1:c.791-1515T>A
  • NM_001408407.1:c.785-1506T>A
  • NM_001408408.1:c.779-1506T>A
  • NM_001408409.1:c.710-1506T>A
  • NM_001408410.1:c.647-1506T>A
  • NM_001408411.1:c.710-1506T>A
  • NM_001408412.1:c.710-1506T>A
  • NM_001408413.1:c.707-1506T>A
  • NM_001408414.1:c.710-1506T>A
  • NM_001408415.1:c.710-1506T>A
  • NM_001408416.1:c.707-1506T>A
  • NM_001408418.1:c.671-1506T>A
  • NM_001408419.1:c.671-1506T>A
  • NM_001408420.1:c.671-1506T>A
  • NM_001408421.1:c.668-1506T>A
  • NM_001408422.1:c.671-1506T>A
  • NM_001408423.1:c.671-1506T>A
  • NM_001408424.1:c.668-1506T>A
  • NM_001408425.1:c.665-1506T>A
  • NM_001408426.1:c.665-1506T>A
  • NM_001408427.1:c.665-1506T>A
  • NM_001408428.1:c.665-1506T>A
  • NM_001408429.1:c.665-1506T>A
  • NM_001408430.1:c.665-1506T>A
  • NM_001408431.1:c.668-1506T>A
  • NM_001408432.1:c.662-1506T>A
  • NM_001408433.1:c.662-1506T>A
  • NM_001408434.1:c.662-1506T>A
  • NM_001408435.1:c.662-1506T>A
  • NM_001408436.1:c.665-1506T>A
  • NM_001408437.1:c.665-1506T>A
  • NM_001408438.1:c.665-1506T>A
  • NM_001408439.1:c.665-1506T>A
  • NM_001408440.1:c.665-1506T>A
  • NM_001408441.1:c.665-1506T>A
  • NM_001408442.1:c.665-1506T>A
  • NM_001408443.1:c.665-1506T>A
  • NM_001408444.1:c.665-1506T>A
  • NM_001408445.1:c.662-1506T>A
  • NM_001408446.1:c.662-1506T>A
  • NM_001408447.1:c.662-1506T>A
  • NM_001408448.1:c.662-1506T>A
  • NM_001408450.1:c.662-1506T>A
  • NM_001408451.1:c.653-1506T>A
  • NM_001408452.1:c.647-1506T>A
  • NM_001408453.1:c.647-1506T>A
  • NM_001408454.1:c.647-1506T>A
  • NM_001408455.1:c.647-1506T>A
  • NM_001408456.1:c.647-1506T>A
  • NM_001408457.1:c.647-1506T>A
  • NM_001408458.1:c.647-1506T>A
  • NM_001408459.1:c.647-1506T>A
  • NM_001408460.1:c.647-1506T>A
  • NM_001408461.1:c.647-1506T>A
  • NM_001408462.1:c.644-1506T>A
  • NM_001408463.1:c.644-1506T>A
  • NM_001408464.1:c.644-1506T>A
  • NM_001408465.1:c.644-1506T>A
  • NM_001408466.1:c.647-1506T>A
  • NM_001408467.1:c.647-1506T>A
  • NM_001408468.1:c.644-1506T>A
  • NM_001408469.1:c.647-1506T>A
  • NM_001408470.1:c.644-1506T>A
  • NM_001408472.1:c.788-1506T>A
  • NM_001408473.1:c.785-1506T>A
  • NM_001408474.1:c.587-1506T>A
  • NM_001408475.1:c.584-1506T>A
  • NM_001408476.1:c.587-1506T>A
  • NM_001408478.1:c.578-1506T>A
  • NM_001408479.1:c.578-1506T>A
  • NM_001408480.1:c.578-1506T>A
  • NM_001408481.1:c.578-1506T>A
  • NM_001408482.1:c.578-1506T>A
  • NM_001408483.1:c.578-1506T>A
  • NM_001408484.1:c.578-1506T>A
  • NM_001408485.1:c.578-1506T>A
  • NM_001408489.1:c.578-1506T>A
  • NM_001408490.1:c.575-1506T>A
  • NM_001408491.1:c.575-1506T>A
  • NM_001408492.1:c.578-1506T>A
  • NM_001408493.1:c.575-1506T>A
  • NM_001408494.1:c.548-1506T>A
  • NM_001408495.1:c.545-1506T>A
  • NM_001408496.1:c.524-1506T>A
  • NM_001408497.1:c.524-1506T>A
  • NM_001408498.1:c.524-1506T>A
  • NM_001408499.1:c.524-1506T>A
  • NM_001408500.1:c.524-1506T>A
  • NM_001408501.1:c.524-1506T>A
  • NM_001408502.1:c.455-1506T>A
  • NM_001408503.1:c.521-1506T>A
  • NM_001408504.1:c.521-1506T>A
  • NM_001408505.1:c.521-1506T>A
  • NM_001408506.1:c.461-1506T>A
  • NM_001408507.1:c.461-1506T>A
  • NM_001408508.1:c.452-1506T>A
  • NM_001408509.1:c.452-1506T>A
  • NM_001408510.1:c.407-1506T>A
  • NM_001408511.1:c.404-1506T>A
  • NM_001408512.1:c.284-1506T>A
  • NM_001408513.1:c.578-1506T>A
  • NM_001408514.1:c.578-1506T>A
  • NM_007294.4:c.2993T>AMANE SELECT
  • NM_007297.4:c.2852T>A
  • NM_007298.4:c.788-1506T>A
  • NM_007299.4:c.788-1506T>A
  • NM_007300.4:c.2993T>A
  • NP_001394500.1:p.Leu927Gln
  • NP_001394510.1:p.Leu998Gln
  • NP_001394511.1:p.Leu998Gln
  • NP_001394512.1:p.Leu998Gln
  • NP_001394514.1:p.Leu998Gln
  • NP_001394516.1:p.Leu997Gln
  • NP_001394519.1:p.Leu997Gln
  • NP_001394520.1:p.Leu997Gln
  • NP_001394522.1:p.Leu998Gln
  • NP_001394523.1:p.Leu998Gln
  • NP_001394525.1:p.Leu998Gln
  • NP_001394526.1:p.Leu998Gln
  • NP_001394527.1:p.Leu998Gln
  • NP_001394531.1:p.Leu998Gln
  • NP_001394532.1:p.Leu998Gln
  • NP_001394534.1:p.Leu998Gln
  • NP_001394539.1:p.Leu997Gln
  • NP_001394540.1:p.Leu997Gln
  • NP_001394541.1:p.Leu997Gln
  • NP_001394542.1:p.Leu997Gln
  • NP_001394543.1:p.Leu997Gln
  • NP_001394544.1:p.Leu997Gln
  • NP_001394545.1:p.Leu998Gln
  • NP_001394546.1:p.Leu998Gln
  • NP_001394547.1:p.Leu998Gln
  • NP_001394548.1:p.Leu998Gln
  • NP_001394549.1:p.Leu998Gln
  • NP_001394550.1:p.Leu998Gln
  • NP_001394551.1:p.Leu998Gln
  • NP_001394552.1:p.Leu998Gln
  • NP_001394553.1:p.Leu998Gln
  • NP_001394554.1:p.Leu998Gln
  • NP_001394555.1:p.Leu998Gln
  • NP_001394556.1:p.Leu997Gln
  • NP_001394557.1:p.Leu997Gln
  • NP_001394558.1:p.Leu997Gln
  • NP_001394559.1:p.Leu997Gln
  • NP_001394560.1:p.Leu997Gln
  • NP_001394561.1:p.Leu997Gln
  • NP_001394562.1:p.Leu997Gln
  • NP_001394563.1:p.Leu997Gln
  • NP_001394564.1:p.Leu997Gln
  • NP_001394565.1:p.Leu997Gln
  • NP_001394566.1:p.Leu997Gln
  • NP_001394567.1:p.Leu997Gln
  • NP_001394568.1:p.Leu998Gln
  • NP_001394569.1:p.Leu998Gln
  • NP_001394570.1:p.Leu998Gln
  • NP_001394571.1:p.Leu998Gln
  • NP_001394573.1:p.Leu997Gln
  • NP_001394574.1:p.Leu997Gln
  • NP_001394575.1:p.Leu995Gln
  • NP_001394576.1:p.Leu995Gln
  • NP_001394577.1:p.Leu957Gln
  • NP_001394578.1:p.Leu956Gln
  • NP_001394581.1:p.Leu998Gln
  • NP_001394582.1:p.Leu972Gln
  • NP_001394583.1:p.Leu972Gln
  • NP_001394584.1:p.Leu972Gln
  • NP_001394585.1:p.Leu972Gln
  • NP_001394586.1:p.Leu972Gln
  • NP_001394587.1:p.Leu972Gln
  • NP_001394588.1:p.Leu971Gln
  • NP_001394589.1:p.Leu971Gln
  • NP_001394590.1:p.Leu971Gln
  • NP_001394591.1:p.Leu971Gln
  • NP_001394592.1:p.Leu972Gln
  • NP_001394593.1:p.Leu957Gln
  • NP_001394594.1:p.Leu957Gln
  • NP_001394595.1:p.Leu957Gln
  • NP_001394596.1:p.Leu957Gln
  • NP_001394597.1:p.Leu957Gln
  • NP_001394598.1:p.Leu957Gln
  • NP_001394599.1:p.Leu956Gln
  • NP_001394600.1:p.Leu956Gln
  • NP_001394601.1:p.Leu956Gln
  • NP_001394602.1:p.Leu956Gln
  • NP_001394603.1:p.Leu957Gln
  • NP_001394604.1:p.Leu957Gln
  • NP_001394605.1:p.Leu957Gln
  • NP_001394606.1:p.Leu957Gln
  • NP_001394607.1:p.Leu957Gln
  • NP_001394608.1:p.Leu957Gln
  • NP_001394609.1:p.Leu957Gln
  • NP_001394610.1:p.Leu957Gln
  • NP_001394611.1:p.Leu957Gln
  • NP_001394612.1:p.Leu957Gln
  • NP_001394613.1:p.Leu998Gln
  • NP_001394614.1:p.Leu956Gln
  • NP_001394615.1:p.Leu956Gln
  • NP_001394616.1:p.Leu956Gln
  • NP_001394617.1:p.Leu956Gln
  • NP_001394618.1:p.Leu956Gln
  • NP_001394619.1:p.Leu956Gln
  • NP_001394620.1:p.Leu956Gln
  • NP_001394621.1:p.Leu951Gln
  • NP_001394623.1:p.Leu951Gln
  • NP_001394624.1:p.Leu951Gln
  • NP_001394625.1:p.Leu951Gln
  • NP_001394626.1:p.Leu951Gln
  • NP_001394627.1:p.Leu951Gln
  • NP_001394653.1:p.Leu951Gln
  • NP_001394654.1:p.Leu951Gln
  • NP_001394655.1:p.Leu951Gln
  • NP_001394656.1:p.Leu951Gln
  • NP_001394657.1:p.Leu951Gln
  • NP_001394658.1:p.Leu951Gln
  • NP_001394659.1:p.Leu951Gln
  • NP_001394660.1:p.Leu951Gln
  • NP_001394661.1:p.Leu951Gln
  • NP_001394662.1:p.Leu951Gln
  • NP_001394663.1:p.Leu951Gln
  • NP_001394664.1:p.Leu951Gln
  • NP_001394665.1:p.Leu951Gln
  • NP_001394666.1:p.Leu951Gln
  • NP_001394667.1:p.Leu951Gln
  • NP_001394668.1:p.Leu951Gln
  • NP_001394669.1:p.Leu950Gln
  • NP_001394670.1:p.Leu950Gln
  • NP_001394671.1:p.Leu950Gln
  • NP_001394672.1:p.Leu950Gln
  • NP_001394673.1:p.Leu950Gln
  • NP_001394674.1:p.Leu950Gln
  • NP_001394675.1:p.Leu950Gln
  • NP_001394676.1:p.Leu950Gln
  • NP_001394677.1:p.Leu950Gln
  • NP_001394678.1:p.Leu950Gln
  • NP_001394679.1:p.Leu951Gln
  • NP_001394680.1:p.Leu951Gln
  • NP_001394681.1:p.Leu951Gln
  • NP_001394767.1:p.Leu950Gln
  • NP_001394768.1:p.Leu950Gln
  • NP_001394770.1:p.Leu950Gln
  • NP_001394771.1:p.Leu950Gln
  • NP_001394772.1:p.Leu950Gln
  • NP_001394773.1:p.Leu950Gln
  • NP_001394774.1:p.Leu950Gln
  • NP_001394775.1:p.Leu950Gln
  • NP_001394776.1:p.Leu950Gln
  • NP_001394777.1:p.Leu950Gln
  • NP_001394778.1:p.Leu950Gln
  • NP_001394779.1:p.Leu951Gln
  • NP_001394780.1:p.Leu951Gln
  • NP_001394781.1:p.Leu951Gln
  • NP_001394782.1:p.Leu927Gln
  • NP_001394783.1:p.Leu998Gln
  • NP_001394787.1:p.Leu998Gln
  • NP_001394788.1:p.Leu998Gln
  • NP_001394789.1:p.Leu997Gln
  • NP_001394790.1:p.Leu997Gln
  • NP_001394791.1:p.Leu931Gln
  • NP_001394792.1:p.Leu957Gln
  • NP_001394803.1:p.Leu930Gln
  • NP_001394804.1:p.Leu930Gln
  • NP_001394808.1:p.Leu928Gln
  • NP_001394810.1:p.Leu928Gln
  • NP_001394811.1:p.Leu928Gln
  • NP_001394813.1:p.Leu928Gln
  • NP_001394814.1:p.Leu928Gln
  • NP_001394815.1:p.Leu928Gln
  • NP_001394816.1:p.Leu928Gln
  • NP_001394818.1:p.Leu928Gln
  • NP_001394823.1:p.Leu927Gln
  • NP_001394824.1:p.Leu927Gln
  • NP_001394825.1:p.Leu927Gln
  • NP_001394826.1:p.Leu927Gln
  • NP_001394827.1:p.Leu927Gln
  • NP_001394828.1:p.Leu927Gln
  • NP_001394829.1:p.Leu928Gln
  • NP_001394831.1:p.Leu928Gln
  • NP_001394833.1:p.Leu928Gln
  • NP_001394835.1:p.Leu928Gln
  • NP_001394836.1:p.Leu928Gln
  • NP_001394837.1:p.Leu928Gln
  • NP_001394838.1:p.Leu928Gln
  • NP_001394839.1:p.Leu928Gln
  • NP_001394844.1:p.Leu927Gln
  • NP_001394845.1:p.Leu927Gln
  • NP_001394846.1:p.Leu927Gln
  • NP_001394847.1:p.Leu927Gln
  • NP_001394848.1:p.Leu957Gln
  • NP_001394849.1:p.Leu910Gln
  • NP_001394850.1:p.Leu910Gln
  • NP_001394851.1:p.Leu910Gln
  • NP_001394852.1:p.Leu910Gln
  • NP_001394853.1:p.Leu910Gln
  • NP_001394854.1:p.Leu910Gln
  • NP_001394855.1:p.Leu910Gln
  • NP_001394856.1:p.Leu910Gln
  • NP_001394857.1:p.Leu910Gln
  • NP_001394858.1:p.Leu910Gln
  • NP_001394859.1:p.Leu909Gln
  • NP_001394860.1:p.Leu909Gln
  • NP_001394861.1:p.Leu909Gln
  • NP_001394862.1:p.Leu910Gln
  • NP_001394863.1:p.Leu909Gln
  • NP_001394864.1:p.Leu910Gln
  • NP_001394865.1:p.Leu909Gln
  • NP_001394866.1:p.Leu957Gln
  • NP_001394867.1:p.Leu957Gln
  • NP_001394868.1:p.Leu957Gln
  • NP_001394869.1:p.Leu956Gln
  • NP_001394870.1:p.Leu956Gln
  • NP_001394871.1:p.Leu951Gln
  • NP_001394872.1:p.Leu950Gln
  • NP_001394873.1:p.Leu951Gln
  • NP_001394874.1:p.Leu951Gln
  • NP_001394875.1:p.Leu887Gln
  • NP_001394876.1:p.Leu887Gln
  • NP_001394877.1:p.Leu887Gln
  • NP_001394878.1:p.Leu887Gln
  • NP_001394879.1:p.Leu887Gln
  • NP_001394880.1:p.Leu887Gln
  • NP_001394881.1:p.Leu887Gln
  • NP_001394882.1:p.Leu887Gln
  • NP_001394883.1:p.Leu886Gln
  • NP_001394884.1:p.Leu886Gln
  • NP_001394885.1:p.Leu886Gln
  • NP_001394886.1:p.Leu887Gln
  • NP_001394887.1:p.Leu886Gln
  • NP_001394888.1:p.Leu871Gln
  • NP_001394889.1:p.Leu871Gln
  • NP_001394891.1:p.Leu870Gln
  • NP_001394892.1:p.Leu871Gln
  • NP_001394893.1:p.Leu950Gln
  • NP_001394894.1:p.Leu830Gln
  • NP_001394895.1:p.Leu702Gln
  • NP_001394896.1:p.Leu702Gln
  • NP_009225.1:p.Leu998Gln
  • NP_009225.1:p.Leu998Gln
  • NP_009228.2:p.Leu951Gln
  • NP_009231.2:p.Leu998Gln
  • LRG_292t1:c.2993T>A
  • LRG_292:g.125446T>A
  • LRG_292p1:p.Leu998Gln
  • NC_000017.10:g.41244555A>T
  • NM_007294.3:c.2993T>A
  • NR_027676.1:n.3129T>A
Protein change:
L702Q
Links:
dbSNP: rs1567793330
NCBI 1000 Genomes Browser:
rs1567793330
Molecular consequence:
  • NM_001407968.1:c.788-399T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-399T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1515T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1506T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2984T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2984T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2915T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2915T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2915T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2915T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2915T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2915T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2912T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2912T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2912T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2912T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2915T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2990T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2792T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2789T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2789T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2783T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2780T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2726T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2726T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2726T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2726T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2729T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2726T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2870T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2867T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2657T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2657T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2657T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2660T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2657T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2612T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2612T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2609T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2612T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2489T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2105T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2105T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2852T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2993T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004523008Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 6, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

Peixoto A, Santos C, Pinto P, Pinheiro M, Rocha P, Pinto C, Bizarro S, Veiga I, Principe AS, Maia S, Castro F, Couto R, Gouveia A, Teixeira MR.

Clin Genet. 2015 Jul;88(1):41-8. doi: 10.1111/cge.12441. Epub 2014 Jul 26.

PubMed [citation]
PMID:
24916970

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004523008.1

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

Description

This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 998 of the BRCA1 protein (p.Leu998Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of HBOC syndrome (PMID: 24916970). ClinVar contains an entry for this variant (Variation ID: 628929). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jul 15, 2024