NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 30, 2020
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:: RCV002356358.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs)]

NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Insertion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs)

Other names:

4135insTT

HGVS:

NC_000017.11:g.43091514_43091515insAA
NG_005905.2:g.126469_126470insTT
NG_087068.1:g.496_497insAA
NM_001407571.1:c.3803_3804insTT
NM_001407581.1:c.4016_4017insTT
NM_001407582.1:c.4016_4017insTT
NM_001407583.1:c.4016_4017insTT
NM_001407585.1:c.4016_4017insTT
NM_001407587.1:c.4013_4014insTT
NM_001407590.1:c.4013_4014insTT
NM_001407591.1:c.4013_4014insTT
NM_001407593.1:c.4016_4017insTT
NM_001407594.1:c.4016_4017insTT
NM_001407596.1:c.4016_4017insTT
NM_001407597.1:c.4016_4017insTT
NM_001407598.1:c.4016_4017insTT
NM_001407602.1:c.4016_4017insTT
NM_001407603.1:c.4016_4017insTT
NM_001407605.1:c.4016_4017insTT
NM_001407610.1:c.4013_4014insTT
NM_001407611.1:c.4013_4014insTT
NM_001407612.1:c.4013_4014insTT
NM_001407613.1:c.4013_4014insTT
NM_001407614.1:c.4013_4014insTT
NM_001407615.1:c.4013_4014insTT
NM_001407616.1:c.4016_4017insTT
NM_001407617.1:c.4016_4017insTT
NM_001407618.1:c.4016_4017insTT
NM_001407619.1:c.4016_4017insTT
NM_001407620.1:c.4016_4017insTT
NM_001407621.1:c.4016_4017insTT
NM_001407622.1:c.4016_4017insTT
NM_001407623.1:c.4016_4017insTT
NM_001407624.1:c.4016_4017insTT
NM_001407625.1:c.4016_4017insTT
NM_001407626.1:c.4016_4017insTT
NM_001407627.1:c.4013_4014insTT
NM_001407628.1:c.4013_4014insTT
NM_001407629.1:c.4013_4014insTT
NM_001407630.1:c.4013_4014insTT
NM_001407631.1:c.4013_4014insTT
NM_001407632.1:c.4013_4014insTT
NM_001407633.1:c.4013_4014insTT
NM_001407634.1:c.4013_4014insTT
NM_001407635.1:c.4013_4014insTT
NM_001407636.1:c.4013_4014insTT
NM_001407637.1:c.4013_4014insTT
NM_001407638.1:c.4013_4014insTT
NM_001407639.1:c.4016_4017insTT
NM_001407640.1:c.4016_4017insTT
NM_001407641.1:c.4016_4017insTT
NM_001407642.1:c.4016_4017insTT
NM_001407644.1:c.4013_4014insTT
NM_001407645.1:c.4013_4014insTT
NM_001407646.1:c.4007_4008insTT
NM_001407647.1:c.4007_4008insTT
NM_001407648.1:c.3893_3894insTT
NM_001407649.1:c.3890_3891insTT
NM_001407652.1:c.4016_4017insTT
NM_001407653.1:c.3938_3939insTT
NM_001407654.1:c.3938_3939insTT
NM_001407655.1:c.3938_3939insTT
NM_001407656.1:c.3938_3939insTT
NM_001407657.1:c.3938_3939insTT
NM_001407658.1:c.3938_3939insTT
NM_001407659.1:c.3935_3936insTT
NM_001407660.1:c.3935_3936insTT
NM_001407661.1:c.3935_3936insTT
NM_001407662.1:c.3935_3936insTT
NM_001407663.1:c.3938_3939insTT
NM_001407664.1:c.3893_3894insTT
NM_001407665.1:c.3893_3894insTT
NM_001407666.1:c.3893_3894insTT
NM_001407667.1:c.3893_3894insTT
NM_001407668.1:c.3893_3894insTT
NM_001407669.1:c.3893_3894insTT
NM_001407670.1:c.3890_3891insTT
NM_001407671.1:c.3890_3891insTT
NM_001407672.1:c.3890_3891insTT
NM_001407673.1:c.3890_3891insTT
NM_001407674.1:c.3893_3894insTT
NM_001407675.1:c.3893_3894insTT
NM_001407676.1:c.3893_3894insTT
NM_001407677.1:c.3893_3894insTT
NM_001407678.1:c.3893_3894insTT
NM_001407679.1:c.3893_3894insTT
NM_001407680.1:c.3893_3894insTT
NM_001407681.1:c.3893_3894insTT
NM_001407682.1:c.3893_3894insTT
NM_001407683.1:c.3893_3894insTT
NM_001407684.1:c.4016_4017insTT
NM_001407685.1:c.3890_3891insTT
NM_001407686.1:c.3890_3891insTT
NM_001407687.1:c.3890_3891insTT
NM_001407688.1:c.3890_3891insTT
NM_001407689.1:c.3890_3891insTT
NM_001407690.1:c.3890_3891insTT
NM_001407691.1:c.3890_3891insTT
NM_001407692.1:c.3875_3876insTT
NM_001407694.1:c.3875_3876insTT
NM_001407695.1:c.3875_3876insTT
NM_001407696.1:c.3875_3876insTT
NM_001407697.1:c.3875_3876insTT
NM_001407698.1:c.3875_3876insTT
NM_001407724.1:c.3875_3876insTT
NM_001407725.1:c.3875_3876insTT
NM_001407726.1:c.3875_3876insTT
NM_001407727.1:c.3875_3876insTT
NM_001407728.1:c.3875_3876insTT
NM_001407729.1:c.3875_3876insTT
NM_001407730.1:c.3875_3876insTT
NM_001407731.1:c.3875_3876insTT
NM_001407732.1:c.3875_3876insTT
NM_001407733.1:c.3875_3876insTT
NM_001407734.1:c.3875_3876insTT
NM_001407735.1:c.3875_3876insTT
NM_001407736.1:c.3875_3876insTT
NM_001407737.1:c.3875_3876insTT
NM_001407738.1:c.3875_3876insTT
NM_001407739.1:c.3875_3876insTT
NM_001407740.1:c.3872_3873insTT
NM_001407741.1:c.3872_3873insTT
NM_001407742.1:c.3872_3873insTT
NM_001407743.1:c.3872_3873insTT
NM_001407744.1:c.3872_3873insTT
NM_001407745.1:c.3872_3873insTT
NM_001407746.1:c.3872_3873insTT
NM_001407747.1:c.3872_3873insTT
NM_001407748.1:c.3872_3873insTT
NM_001407749.1:c.3872_3873insTT
NM_001407750.1:c.3875_3876insTT
NM_001407751.1:c.3875_3876insTT
NM_001407752.1:c.3875_3876insTT
NM_001407838.1:c.3872_3873insTT
NM_001407839.1:c.3872_3873insTT
NM_001407841.1:c.3872_3873insTT
NM_001407842.1:c.3872_3873insTT
NM_001407843.1:c.3872_3873insTT
NM_001407844.1:c.3872_3873insTT
NM_001407845.1:c.3872_3873insTT
NM_001407846.1:c.3872_3873insTT
NM_001407847.1:c.3872_3873insTT
NM_001407848.1:c.3872_3873insTT
NM_001407849.1:c.3872_3873insTT
NM_001407850.1:c.3875_3876insTT
NM_001407851.1:c.3875_3876insTT
NM_001407852.1:c.3875_3876insTT
NM_001407853.1:c.3803_3804insTT
NM_001407854.1:c.4016_4017insTT
NM_001407858.1:c.4016_4017insTT
NM_001407859.1:c.4016_4017insTT
NM_001407860.1:c.4013_4014insTT
NM_001407861.1:c.4013_4014insTT
NM_001407862.1:c.3815_3816insTT
NM_001407863.1:c.3893_3894insTT
NM_001407874.1:c.3812_3813insTT
NM_001407875.1:c.3812_3813insTT
NM_001407879.1:c.3806_3807insTT
NM_001407881.1:c.3806_3807insTT
NM_001407882.1:c.3806_3807insTT
NM_001407884.1:c.3806_3807insTT
NM_001407885.1:c.3806_3807insTT
NM_001407886.1:c.3806_3807insTT
NM_001407887.1:c.3806_3807insTT
NM_001407889.1:c.3806_3807insTT
NM_001407894.1:c.3803_3804insTT
NM_001407895.1:c.3803_3804insTT
NM_001407896.1:c.3803_3804insTT
NM_001407897.1:c.3803_3804insTT
NM_001407898.1:c.3803_3804insTT
NM_001407899.1:c.3803_3804insTT
NM_001407900.1:c.3806_3807insTT
NM_001407902.1:c.3806_3807insTT
NM_001407904.1:c.3806_3807insTT
NM_001407906.1:c.3806_3807insTT
NM_001407907.1:c.3806_3807insTT
NM_001407908.1:c.3806_3807insTT
NM_001407909.1:c.3806_3807insTT
NM_001407910.1:c.3806_3807insTT
NM_001407915.1:c.3803_3804insTT
NM_001407916.1:c.3803_3804insTT
NM_001407917.1:c.3803_3804insTT
NM_001407918.1:c.3803_3804insTT
NM_001407919.1:c.3893_3894insTT
NM_001407920.1:c.3752_3753insTT
NM_001407921.1:c.3752_3753insTT
NM_001407922.1:c.3752_3753insTT
NM_001407923.1:c.3752_3753insTT
NM_001407924.1:c.3752_3753insTT
NM_001407925.1:c.3752_3753insTT
NM_001407926.1:c.3752_3753insTT
NM_001407927.1:c.3752_3753insTT
NM_001407928.1:c.3752_3753insTT
NM_001407929.1:c.3752_3753insTT
NM_001407930.1:c.3749_3750insTT
NM_001407931.1:c.3749_3750insTT
NM_001407932.1:c.3749_3750insTT
NM_001407933.1:c.3752_3753insTT
NM_001407934.1:c.3749_3750insTT
NM_001407935.1:c.3752_3753insTT
NM_001407936.1:c.3749_3750insTT
NM_001407937.1:c.3893_3894insTT
NM_001407938.1:c.3893_3894insTT
NM_001407939.1:c.3893_3894insTT
NM_001407940.1:c.3890_3891insTT
NM_001407941.1:c.3890_3891insTT
NM_001407942.1:c.3875_3876insTT
NM_001407943.1:c.3872_3873insTT
NM_001407944.1:c.3875_3876insTT
NM_001407945.1:c.3875_3876insTT
NM_001407946.1:c.3683_3684insTT
NM_001407947.1:c.3683_3684insTT
NM_001407948.1:c.3683_3684insTT
NM_001407949.1:c.3683_3684insTT
NM_001407950.1:c.3683_3684insTT
NM_001407951.1:c.3683_3684insTT
NM_001407952.1:c.3683_3684insTT
NM_001407953.1:c.3683_3684insTT
NM_001407954.1:c.3680_3681insTT
NM_001407955.1:c.3680_3681insTT
NM_001407956.1:c.3680_3681insTT
NM_001407957.1:c.3683_3684insTT
NM_001407958.1:c.3680_3681insTT
NM_001407959.1:c.3635_3636insTT
NM_001407960.1:c.3635_3636insTT
NM_001407962.1:c.3632_3633insTT
NM_001407963.1:c.3635_3636insTT
NM_001407964.1:c.3872_3873insTT
NM_001407965.1:c.3512_3513insTT
NM_001407966.1:c.3128_3129insTT
NM_001407967.1:c.3128_3129insTT
NM_001407968.1:c.1412_1413insTT
NM_001407969.1:c.1412_1413insTT
NM_001407970.1:c.788-483_788-482insTT
NM_001407971.1:c.788-483_788-482insTT
NM_001407972.1:c.785-483_785-482insTT
NM_001407973.1:c.788-483_788-482insTT
NM_001407974.1:c.788-483_788-482insTT
NM_001407975.1:c.788-483_788-482insTT
NM_001407976.1:c.788-483_788-482insTT
NM_001407977.1:c.788-483_788-482insTT
NM_001407978.1:c.788-483_788-482insTT
NM_001407979.1:c.788-483_788-482insTT
NM_001407980.1:c.788-483_788-482insTT
NM_001407981.1:c.788-483_788-482insTT
NM_001407982.1:c.788-483_788-482insTT
NM_001407983.1:c.788-483_788-482insTT
NM_001407984.1:c.785-483_785-482insTT
NM_001407985.1:c.785-483_785-482insTT
NM_001407986.1:c.785-483_785-482insTT
NM_001407990.1:c.788-483_788-482insTT
NM_001407991.1:c.785-483_785-482insTT
NM_001407992.1:c.785-483_785-482insTT
NM_001407993.1:c.788-483_788-482insTT
NM_001408392.1:c.785-483_785-482insTT
NM_001408396.1:c.785-483_785-482insTT
NM_001408397.1:c.785-483_785-482insTT
NM_001408398.1:c.785-483_785-482insTT
NM_001408399.1:c.785-483_785-482insTT
NM_001408400.1:c.785-483_785-482insTT
NM_001408401.1:c.785-483_785-482insTT
NM_001408402.1:c.785-483_785-482insTT
NM_001408403.1:c.788-483_788-482insTT
NM_001408404.1:c.788-483_788-482insTT
NM_001408406.1:c.791-492_791-491insTT
NM_001408407.1:c.785-483_785-482insTT
NM_001408408.1:c.779-483_779-482insTT
NM_001408409.1:c.710-483_710-482insTT
NM_001408410.1:c.647-483_647-482insTT
NM_001408411.1:c.710-483_710-482insTT
NM_001408412.1:c.710-483_710-482insTT
NM_001408413.1:c.707-483_707-482insTT
NM_001408414.1:c.710-483_710-482insTT
NM_001408415.1:c.710-483_710-482insTT
NM_001408416.1:c.707-483_707-482insTT
NM_001408418.1:c.671-483_671-482insTT
NM_001408419.1:c.671-483_671-482insTT
NM_001408420.1:c.671-483_671-482insTT
NM_001408421.1:c.668-483_668-482insTT
NM_001408422.1:c.671-483_671-482insTT
NM_001408423.1:c.671-483_671-482insTT
NM_001408424.1:c.668-483_668-482insTT
NM_001408425.1:c.665-483_665-482insTT
NM_001408426.1:c.665-483_665-482insTT
NM_001408427.1:c.665-483_665-482insTT
NM_001408428.1:c.665-483_665-482insTT
NM_001408429.1:c.665-483_665-482insTT
NM_001408430.1:c.665-483_665-482insTT
NM_001408431.1:c.668-483_668-482insTT
NM_001408432.1:c.662-483_662-482insTT
NM_001408433.1:c.662-483_662-482insTT
NM_001408434.1:c.662-483_662-482insTT
NM_001408435.1:c.662-483_662-482insTT
NM_001408436.1:c.665-483_665-482insTT
NM_001408437.1:c.665-483_665-482insTT
NM_001408438.1:c.665-483_665-482insTT
NM_001408439.1:c.665-483_665-482insTT
NM_001408440.1:c.665-483_665-482insTT
NM_001408441.1:c.665-483_665-482insTT
NM_001408442.1:c.665-483_665-482insTT
NM_001408443.1:c.665-483_665-482insTT
NM_001408444.1:c.665-483_665-482insTT
NM_001408445.1:c.662-483_662-482insTT
NM_001408446.1:c.662-483_662-482insTT
NM_001408447.1:c.662-483_662-482insTT
NM_001408448.1:c.662-483_662-482insTT
NM_001408450.1:c.662-483_662-482insTT
NM_001408451.1:c.653-483_653-482insTT
NM_001408452.1:c.647-483_647-482insTT
NM_001408453.1:c.647-483_647-482insTT
NM_001408454.1:c.647-483_647-482insTT
NM_001408455.1:c.647-483_647-482insTT
NM_001408456.1:c.647-483_647-482insTT
NM_001408457.1:c.647-483_647-482insTT
NM_001408458.1:c.647-483_647-482insTT
NM_001408459.1:c.647-483_647-482insTT
NM_001408460.1:c.647-483_647-482insTT
NM_001408461.1:c.647-483_647-482insTT
NM_001408462.1:c.644-483_644-482insTT
NM_001408463.1:c.644-483_644-482insTT
NM_001408464.1:c.644-483_644-482insTT
NM_001408465.1:c.644-483_644-482insTT
NM_001408466.1:c.647-483_647-482insTT
NM_001408467.1:c.647-483_647-482insTT
NM_001408468.1:c.644-483_644-482insTT
NM_001408469.1:c.647-483_647-482insTT
NM_001408470.1:c.644-483_644-482insTT
NM_001408472.1:c.788-483_788-482insTT
NM_001408473.1:c.785-483_785-482insTT
NM_001408474.1:c.587-483_587-482insTT
NM_001408475.1:c.584-483_584-482insTT
NM_001408476.1:c.587-483_587-482insTT
NM_001408478.1:c.578-483_578-482insTT
NM_001408479.1:c.578-483_578-482insTT
NM_001408480.1:c.578-483_578-482insTT
NM_001408481.1:c.578-483_578-482insTT
NM_001408482.1:c.578-483_578-482insTT
NM_001408483.1:c.578-483_578-482insTT
NM_001408484.1:c.578-483_578-482insTT
NM_001408485.1:c.578-483_578-482insTT
NM_001408489.1:c.578-483_578-482insTT
NM_001408490.1:c.575-483_575-482insTT
NM_001408491.1:c.575-483_575-482insTT
NM_001408492.1:c.578-483_578-482insTT
NM_001408493.1:c.575-483_575-482insTT
NM_001408494.1:c.548-483_548-482insTT
NM_001408495.1:c.545-483_545-482insTT
NM_001408496.1:c.524-483_524-482insTT
NM_001408497.1:c.524-483_524-482insTT
NM_001408498.1:c.524-483_524-482insTT
NM_001408499.1:c.524-483_524-482insTT
NM_001408500.1:c.524-483_524-482insTT
NM_001408501.1:c.524-483_524-482insTT
NM_001408502.1:c.455-483_455-482insTT
NM_001408503.1:c.521-483_521-482insTT
NM_001408504.1:c.521-483_521-482insTT
NM_001408505.1:c.521-483_521-482insTT
NM_001408506.1:c.461-483_461-482insTT
NM_001408507.1:c.461-483_461-482insTT
NM_001408508.1:c.452-483_452-482insTT
NM_001408509.1:c.452-483_452-482insTT
NM_001408510.1:c.407-483_407-482insTT
NM_001408511.1:c.404-483_404-482insTT
NM_001408512.1:c.284-483_284-482insTT
NM_001408513.1:c.578-483_578-482insTT
NM_001408514.1:c.578-483_578-482insTT
NM_007294.4:c.4016_4017insTTMANE SELECT
NM_007297.4:c.3875_3876insTT
NM_007298.4:c.788-483_788-482insTT
NM_007299.4:c.788-483_788-482insTT
NM_007300.4:c.4016_4017insTT
NP_001394500.1:p.Glu1268fs
NP_001394510.1:p.Glu1339fs
NP_001394511.1:p.Glu1339fs
NP_001394512.1:p.Glu1339fs
NP_001394514.1:p.Glu1339fs
NP_001394516.1:p.Glu1338fs
NP_001394519.1:p.Glu1338fs
NP_001394520.1:p.Glu1338fs
NP_001394522.1:p.Glu1339fs
NP_001394523.1:p.Glu1339fs
NP_001394525.1:p.Glu1339fs
NP_001394526.1:p.Glu1339fs
NP_001394527.1:p.Glu1339fs
NP_001394531.1:p.Glu1339fs
NP_001394532.1:p.Glu1339fs
NP_001394534.1:p.Glu1339fs
NP_001394539.1:p.Glu1338fs
NP_001394540.1:p.Glu1338fs
NP_001394541.1:p.Glu1338fs
NP_001394542.1:p.Glu1338fs
NP_001394543.1:p.Glu1338fs
NP_001394544.1:p.Glu1338fs
NP_001394545.1:p.Glu1339fs
NP_001394546.1:p.Glu1339fs
NP_001394547.1:p.Glu1339fs
NP_001394548.1:p.Glu1339fs
NP_001394549.1:p.Glu1339fs
NP_001394550.1:p.Glu1339fs
NP_001394551.1:p.Glu1339fs
NP_001394552.1:p.Glu1339fs
NP_001394553.1:p.Glu1339fs
NP_001394554.1:p.Glu1339fs
NP_001394555.1:p.Glu1339fs
NP_001394556.1:p.Glu1338fs
NP_001394557.1:p.Glu1338fs
NP_001394558.1:p.Glu1338fs
NP_001394559.1:p.Glu1338fs
NP_001394560.1:p.Glu1338fs
NP_001394561.1:p.Glu1338fs
NP_001394562.1:p.Glu1338fs
NP_001394563.1:p.Glu1338fs
NP_001394564.1:p.Glu1338fs
NP_001394565.1:p.Glu1338fs
NP_001394566.1:p.Glu1338fs
NP_001394567.1:p.Glu1338fs
NP_001394568.1:p.Glu1339fs
NP_001394569.1:p.Glu1339fs
NP_001394570.1:p.Glu1339fs
NP_001394571.1:p.Glu1339fs
NP_001394573.1:p.Glu1338fs
NP_001394574.1:p.Glu1338fs
NP_001394575.1:p.Glu1336fs
NP_001394576.1:p.Glu1336fs
NP_001394577.1:p.Glu1298fs
NP_001394578.1:p.Glu1297fs
NP_001394581.1:p.Glu1339fs
NP_001394582.1:p.Glu1313fs
NP_001394583.1:p.Glu1313fs
NP_001394584.1:p.Glu1313fs
NP_001394585.1:p.Glu1313fs
NP_001394586.1:p.Glu1313fs
NP_001394587.1:p.Glu1313fs
NP_001394588.1:p.Glu1312fs
NP_001394589.1:p.Glu1312fs
NP_001394590.1:p.Glu1312fs
NP_001394591.1:p.Glu1312fs
NP_001394592.1:p.Glu1313fs
NP_001394593.1:p.Glu1298fs
NP_001394594.1:p.Glu1298fs
NP_001394595.1:p.Glu1298fs
NP_001394596.1:p.Glu1298fs
NP_001394597.1:p.Glu1298fs
NP_001394598.1:p.Glu1298fs
NP_001394599.1:p.Glu1297fs
NP_001394600.1:p.Glu1297fs
NP_001394601.1:p.Glu1297fs
NP_001394602.1:p.Glu1297fs
NP_001394603.1:p.Glu1298fs
NP_001394604.1:p.Glu1298fs
NP_001394605.1:p.Glu1298fs
NP_001394606.1:p.Glu1298fs
NP_001394607.1:p.Glu1298fs
NP_001394608.1:p.Glu1298fs
NP_001394609.1:p.Glu1298fs
NP_001394610.1:p.Glu1298fs
NP_001394611.1:p.Glu1298fs
NP_001394612.1:p.Glu1298fs
NP_001394613.1:p.Glu1339fs
NP_001394614.1:p.Glu1297fs
NP_001394615.1:p.Glu1297fs
NP_001394616.1:p.Glu1297fs
NP_001394617.1:p.Glu1297fs
NP_001394618.1:p.Glu1297fs
NP_001394619.1:p.Glu1297fs
NP_001394620.1:p.Glu1297fs
NP_001394621.1:p.Glu1292fs
NP_001394623.1:p.Glu1292fs
NP_001394624.1:p.Glu1292fs
NP_001394625.1:p.Glu1292fs
NP_001394626.1:p.Glu1292fs
NP_001394627.1:p.Glu1292fs
NP_001394653.1:p.Glu1292fs
NP_001394654.1:p.Glu1292fs
NP_001394655.1:p.Glu1292fs
NP_001394656.1:p.Glu1292fs
NP_001394657.1:p.Glu1292fs
NP_001394658.1:p.Glu1292fs
NP_001394659.1:p.Glu1292fs
NP_001394660.1:p.Glu1292fs
NP_001394661.1:p.Glu1292fs
NP_001394662.1:p.Glu1292fs
NP_001394663.1:p.Glu1292fs
NP_001394664.1:p.Glu1292fs
NP_001394665.1:p.Glu1292fs
NP_001394666.1:p.Glu1292fs
NP_001394667.1:p.Glu1292fs
NP_001394668.1:p.Glu1292fs
NP_001394669.1:p.Glu1291fs
NP_001394670.1:p.Glu1291fs
NP_001394671.1:p.Glu1291fs
NP_001394672.1:p.Glu1291fs
NP_001394673.1:p.Glu1291fs
NP_001394674.1:p.Glu1291fs
NP_001394675.1:p.Glu1291fs
NP_001394676.1:p.Glu1291fs
NP_001394677.1:p.Glu1291fs
NP_001394678.1:p.Glu1291fs
NP_001394679.1:p.Glu1292fs
NP_001394680.1:p.Glu1292fs
NP_001394681.1:p.Glu1292fs
NP_001394767.1:p.Glu1291fs
NP_001394768.1:p.Glu1291fs
NP_001394770.1:p.Glu1291fs
NP_001394771.1:p.Glu1291fs
NP_001394772.1:p.Glu1291fs
NP_001394773.1:p.Glu1291fs
NP_001394774.1:p.Glu1291fs
NP_001394775.1:p.Glu1291fs
NP_001394776.1:p.Glu1291fs
NP_001394777.1:p.Glu1291fs
NP_001394778.1:p.Glu1291fs
NP_001394779.1:p.Glu1292fs
NP_001394780.1:p.Glu1292fs
NP_001394781.1:p.Glu1292fs
NP_001394782.1:p.Glu1268fs
NP_001394783.1:p.Glu1339fs
NP_001394787.1:p.Glu1339fs
NP_001394788.1:p.Glu1339fs
NP_001394789.1:p.Glu1338fs
NP_001394790.1:p.Glu1338fs
NP_001394791.1:p.Glu1272fs
NP_001394792.1:p.Glu1298fs
NP_001394803.1:p.Glu1271fs
NP_001394804.1:p.Glu1271fs
NP_001394808.1:p.Glu1269fs
NP_001394810.1:p.Glu1269fs
NP_001394811.1:p.Glu1269fs
NP_001394813.1:p.Glu1269fs
NP_001394814.1:p.Glu1269fs
NP_001394815.1:p.Glu1269fs
NP_001394816.1:p.Glu1269fs
NP_001394818.1:p.Glu1269fs
NP_001394823.1:p.Glu1268fs
NP_001394824.1:p.Glu1268fs
NP_001394825.1:p.Glu1268fs
NP_001394826.1:p.Glu1268fs
NP_001394827.1:p.Glu1268fs
NP_001394828.1:p.Glu1268fs
NP_001394829.1:p.Glu1269fs
NP_001394831.1:p.Glu1269fs
NP_001394833.1:p.Glu1269fs
NP_001394835.1:p.Glu1269fs
NP_001394836.1:p.Glu1269fs
NP_001394837.1:p.Glu1269fs
NP_001394838.1:p.Glu1269fs
NP_001394839.1:p.Glu1269fs
NP_001394844.1:p.Glu1268fs
NP_001394845.1:p.Glu1268fs
NP_001394846.1:p.Glu1268fs
NP_001394847.1:p.Glu1268fs
NP_001394848.1:p.Glu1298fs
NP_001394849.1:p.Glu1251fs
NP_001394850.1:p.Glu1251fs
NP_001394851.1:p.Glu1251fs
NP_001394852.1:p.Glu1251fs
NP_001394853.1:p.Glu1251fs
NP_001394854.1:p.Glu1251fs
NP_001394855.1:p.Glu1251fs
NP_001394856.1:p.Glu1251fs
NP_001394857.1:p.Glu1251fs
NP_001394858.1:p.Glu1251fs
NP_001394859.1:p.Glu1250fs
NP_001394860.1:p.Glu1250fs
NP_001394861.1:p.Glu1250fs
NP_001394862.1:p.Glu1251fs
NP_001394863.1:p.Glu1250fs
NP_001394864.1:p.Glu1251fs
NP_001394865.1:p.Glu1250fs
NP_001394866.1:p.Glu1298fs
NP_001394867.1:p.Glu1298fs
NP_001394868.1:p.Glu1298fs
NP_001394869.1:p.Glu1297fs
NP_001394870.1:p.Glu1297fs
NP_001394871.1:p.Glu1292fs
NP_001394872.1:p.Glu1291fs
NP_001394873.1:p.Glu1292fs
NP_001394874.1:p.Glu1292fs
NP_001394875.1:p.Glu1228fs
NP_001394876.1:p.Glu1228fs
NP_001394877.1:p.Glu1228fs
NP_001394878.1:p.Glu1228fs
NP_001394879.1:p.Glu1228fs
NP_001394880.1:p.Glu1228fs
NP_001394881.1:p.Glu1228fs
NP_001394882.1:p.Glu1228fs
NP_001394883.1:p.Glu1227fs
NP_001394884.1:p.Glu1227fs
NP_001394885.1:p.Glu1227fs
NP_001394886.1:p.Glu1228fs
NP_001394887.1:p.Glu1227fs
NP_001394888.1:p.Glu1212fs
NP_001394889.1:p.Glu1212fs
NP_001394891.1:p.Glu1211fs
NP_001394892.1:p.Glu1212fs
NP_001394893.1:p.Glu1291fs
NP_001394894.1:p.Glu1171fs
NP_001394895.1:p.Glu1043fs
NP_001394896.1:p.Glu1043fs
NP_001394897.1:p.Glu471fs
NP_001394898.1:p.Glu471fs
NP_009225.1:p.Glu1339Aspfs
NP_009225.1:p.Glu1339fs
NP_009228.2:p.Glu1292fs
NP_009231.2:p.Glu1339fs
LRG_292t1:c.4016_4017insTT
LRG_292:g.126469_126470insTT
LRG_292p1:p.Glu1339Aspfs
NC_000017.10:g.41243531_41243532insAA
NM_007294.3:c.4016_4017insTT
NR_027676.1:n.4152_4153insTT
p.Glu1339fs

Protein change:

E1043fs

Links:

dbSNP: rs886040187

NCBI 1000 Genomes Browser:

rs886040187

Molecular consequence:

NM_001407571.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4007_4008insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4007_4008insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3938_3939insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3938_3939insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3938_3939insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3938_3939insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3938_3939insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3938_3939insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3935_3936insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3935_3936insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3935_3936insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3935_3936insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3938_3939insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4013_4014insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3815_3816insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3812_3813insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3812_3813insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3806_3807insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3803_3804insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3749_3750insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3749_3750insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3749_3750insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3749_3750insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3752_3753insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3749_3750insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3893_3894insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3890_3891insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3680_3681insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3680_3681insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3680_3681insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3683_3684insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3680_3681insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3635_3636insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3635_3636insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3632_3633insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3635_3636insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3872_3873insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3512_3513insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.3128_3129insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.3128_3129insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1412_1413insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1412_1413insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3875_3876insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4016_4017insTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-492_791-491insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-483_779-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-483_710-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-483_710-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-483_710-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-483_707-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-483_710-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-483_710-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-483_707-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-483_671-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-483_671-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-483_671-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-483_668-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-483_671-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-483_671-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-483_668-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-483_668-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-483_665-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-483_662-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-483_653-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-483_644-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-483_644-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-483_644-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-483_644-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-483_644-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-483_647-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-483_644-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-483_785-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-483_587-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-483_584-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-483_587-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-483_575-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-483_575-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-483_575-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-483_548-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-483_545-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-483_524-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-483_524-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-483_524-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-483_524-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-483_524-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-483_524-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-483_455-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-483_521-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-483_521-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-483_521-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-483_461-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-483_461-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-483_452-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-483_452-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-483_407-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-483_404-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-483_284-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-483_578-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-483_788-482insTT - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

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MAG: gamma proteobacterium symbiont of Ctena orbiculata isolate LUC_16_020_40_A ...
MAG: gamma proteobacterium symbiont of Ctena orbiculata isolate LUC_16_020_40_A _378, whole genome shotgun sequence
gi|1386777148|gb|NATT01000016.1||gn :NATT01|_378

Nucleotide
Caenorhabditis elegans Iron-sulfur clusters transporter ABCB7, mitochondrial (ab...
Caenorhabditis elegans Iron-sulfur clusters transporter ABCB7, mitochondrial (abtm-1), mRNA
gi|1972227062|ref|NM_001026659.3|

Nucleotide
MAG: gamma proteobacterium symbiont of Clathrolucina costata isolate clacoguadel...
MAG: gamma proteobacterium symbiont of Clathrolucina costata isolate clacoguadel003sym, whole genome shotgun sequencing project
gi|2812889310|gb|JAAMVV000000000.1| V010000000

Nucleotide
MAG: gamma proteobacterium symbiont of Ctena orbiculata isolate LUC_16_020_40_A ...
MAG: gamma proteobacterium symbiont of Ctena orbiculata isolate LUC_16_020_40_A _406, whole genome shotgun sequence
gi|1386777301|gb|NATT01000002.1||gn :NATT01|_406

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002621147	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 30, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002621147

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 30, 2020)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]

PMID:: 29446198
PMCID:: PMC5903938

Details of each submission

From Ambry Genetics, SCV002621147.2

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

Description

The c.4016_4017insTT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from an insertion of two nucleotides at position 4016, causing a translational frameshift with a predicted alternate stop codon (p.E1339Dfs*28). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024

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