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

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Jan 7, 2024
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000773595.11

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000907289Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 6, 2019) 		germlineclinical testing

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

SCV002750709Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 7, 2024) 		germlineclinical testing

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

Citation Link,

SCV003849203University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

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

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

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

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
See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000907289.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV002750709.2

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

Description

The p.L998Q variant (also known as c.2993T>A), located in coding exon 9 of the BRCA1 gene, results from a T to A substitution at nucleotide position 2993. The leucine at codon 998 is replaced by glutamine, an amino acid with dissimilar properties. This alteration has been reported as a variant of unknown significance in 1 of 1050 Portuguese breast/ovarian cancer families (Peixoto A et al. Clin Genet, 2015 Jul;88:41-8). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003849203.1

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

Description

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

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

Last Updated: Sep 29, 2024