U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000497270.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)]

NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
Other names:
2524delTG; 2520delTG
HGVS:
  • NC_000017.11:g.43093125CA[2]
  • NG_005905.2:g.124854TG[2]
  • NM_001407571.1:c.2192_2193del
  • NM_001407581.1:c.2405_2406del
  • NM_001407582.1:c.2405_2406del
  • NM_001407583.1:c.2405_2406del
  • NM_001407585.1:c.2405_2406del
  • NM_001407587.1:c.2402_2403del
  • NM_001407590.1:c.2402_2403del
  • NM_001407591.1:c.2402_2403del
  • NM_001407593.1:c.2405_2406del
  • NM_001407594.1:c.2405_2406del
  • NM_001407596.1:c.2405_2406del
  • NM_001407597.1:c.2405_2406del
  • NM_001407598.1:c.2405_2406del
  • NM_001407602.1:c.2405_2406del
  • NM_001407603.1:c.2405_2406del
  • NM_001407605.1:c.2405_2406del
  • NM_001407610.1:c.2402_2403del
  • NM_001407611.1:c.2402_2403del
  • NM_001407612.1:c.2402_2403del
  • NM_001407613.1:c.2402_2403del
  • NM_001407614.1:c.2402_2403del
  • NM_001407615.1:c.2402_2403del
  • NM_001407616.1:c.2405_2406del
  • NM_001407617.1:c.2405_2406del
  • NM_001407618.1:c.2405_2406del
  • NM_001407619.1:c.2405_2406del
  • NM_001407620.1:c.2405_2406del
  • NM_001407621.1:c.2405_2406del
  • NM_001407622.1:c.2405_2406del
  • NM_001407623.1:c.2405_2406del
  • NM_001407624.1:c.2405_2406del
  • NM_001407625.1:c.2405_2406del
  • NM_001407626.1:c.2405_2406del
  • NM_001407627.1:c.2402_2403del
  • NM_001407628.1:c.2402_2403del
  • NM_001407629.1:c.2402_2403del
  • NM_001407630.1:c.2402_2403del
  • NM_001407631.1:c.2402_2403del
  • NM_001407632.1:c.2402_2403del
  • NM_001407633.1:c.2402_2403del
  • NM_001407634.1:c.2402_2403del
  • NM_001407635.1:c.2402_2403del
  • NM_001407636.1:c.2402_2403del
  • NM_001407637.1:c.2402_2403del
  • NM_001407638.1:c.2402_2403del
  • NM_001407639.1:c.2405_2406del
  • NM_001407640.1:c.2405_2406del
  • NM_001407641.1:c.2405_2406del
  • NM_001407642.1:c.2405_2406del
  • NM_001407644.1:c.2402_2403del
  • NM_001407645.1:c.2402_2403del
  • NM_001407646.1:c.2396_2397del
  • NM_001407647.1:c.2396_2397del
  • NM_001407648.1:c.2282_2283del
  • NM_001407649.1:c.2279_2280del
  • NM_001407652.1:c.2405_2406del
  • NM_001407653.1:c.2327_2328del
  • NM_001407654.1:c.2327_2328del
  • NM_001407655.1:c.2327_2328del
  • NM_001407656.1:c.2327_2328del
  • NM_001407657.1:c.2327_2328del
  • NM_001407658.1:c.2327_2328del
  • NM_001407659.1:c.2324_2325del
  • NM_001407660.1:c.2324_2325del
  • NM_001407661.1:c.2324_2325del
  • NM_001407662.1:c.2324_2325del
  • NM_001407663.1:c.2327_2328del
  • NM_001407664.1:c.2282_2283del
  • NM_001407665.1:c.2282_2283del
  • NM_001407666.1:c.2282_2283del
  • NM_001407667.1:c.2282_2283del
  • NM_001407668.1:c.2282_2283del
  • NM_001407669.1:c.2282_2283del
  • NM_001407670.1:c.2279_2280del
  • NM_001407671.1:c.2279_2280del
  • NM_001407672.1:c.2279_2280del
  • NM_001407673.1:c.2279_2280del
  • NM_001407674.1:c.2282_2283del
  • NM_001407675.1:c.2282_2283del
  • NM_001407676.1:c.2282_2283del
  • NM_001407677.1:c.2282_2283del
  • NM_001407678.1:c.2282_2283del
  • NM_001407679.1:c.2282_2283del
  • NM_001407680.1:c.2282_2283del
  • NM_001407681.1:c.2282_2283del
  • NM_001407682.1:c.2282_2283del
  • NM_001407683.1:c.2282_2283del
  • NM_001407684.1:c.2405_2406del
  • NM_001407685.1:c.2279_2280del
  • NM_001407686.1:c.2279_2280del
  • NM_001407687.1:c.2279_2280del
  • NM_001407688.1:c.2279_2280del
  • NM_001407689.1:c.2279_2280del
  • NM_001407690.1:c.2279_2280del
  • NM_001407691.1:c.2279_2280del
  • NM_001407692.1:c.2264_2265del
  • NM_001407694.1:c.2264_2265del
  • NM_001407695.1:c.2264_2265del
  • NM_001407696.1:c.2264_2265del
  • NM_001407697.1:c.2264_2265del
  • NM_001407698.1:c.2264_2265del
  • NM_001407724.1:c.2264_2265del
  • NM_001407725.1:c.2264_2265del
  • NM_001407726.1:c.2264_2265del
  • NM_001407727.1:c.2264_2265del
  • NM_001407728.1:c.2264_2265del
  • NM_001407729.1:c.2264_2265del
  • NM_001407730.1:c.2264_2265del
  • NM_001407731.1:c.2264_2265del
  • NM_001407732.1:c.2264_2265del
  • NM_001407733.1:c.2264_2265del
  • NM_001407734.1:c.2264_2265del
  • NM_001407735.1:c.2264_2265del
  • NM_001407736.1:c.2264_2265del
  • NM_001407737.1:c.2264_2265del
  • NM_001407738.1:c.2264_2265del
  • NM_001407739.1:c.2264_2265del
  • NM_001407740.1:c.2261_2262del
  • NM_001407741.1:c.2261_2262del
  • NM_001407742.1:c.2261_2262del
  • NM_001407743.1:c.2261_2262del
  • NM_001407744.1:c.2261_2262del
  • NM_001407745.1:c.2261_2262del
  • NM_001407746.1:c.2261_2262del
  • NM_001407747.1:c.2261_2262del
  • NM_001407748.1:c.2261_2262del
  • NM_001407749.1:c.2261_2262del
  • NM_001407750.1:c.2264_2265del
  • NM_001407751.1:c.2264_2265del
  • NM_001407752.1:c.2264_2265del
  • NM_001407838.1:c.2261_2262del
  • NM_001407839.1:c.2261_2262del
  • NM_001407841.1:c.2261_2262del
  • NM_001407842.1:c.2261_2262del
  • NM_001407843.1:c.2261_2262del
  • NM_001407844.1:c.2261_2262del
  • NM_001407845.1:c.2261_2262del
  • NM_001407846.1:c.2261_2262del
  • NM_001407847.1:c.2261_2262del
  • NM_001407848.1:c.2261_2262del
  • NM_001407849.1:c.2261_2262del
  • NM_001407850.1:c.2264_2265del
  • NM_001407851.1:c.2264_2265del
  • NM_001407852.1:c.2264_2265del
  • NM_001407853.1:c.2192_2193del
  • NM_001407854.1:c.2405_2406del
  • NM_001407858.1:c.2405_2406del
  • NM_001407859.1:c.2405_2406del
  • NM_001407860.1:c.2402_2403del
  • NM_001407861.1:c.2402_2403del
  • NM_001407862.1:c.2204_2205del
  • NM_001407863.1:c.2282_2283del
  • NM_001407874.1:c.2201_2202del
  • NM_001407875.1:c.2201_2202del
  • NM_001407879.1:c.2195_2196del
  • NM_001407881.1:c.2195_2196del
  • NM_001407882.1:c.2195_2196del
  • NM_001407884.1:c.2195_2196del
  • NM_001407885.1:c.2195_2196del
  • NM_001407886.1:c.2195_2196del
  • NM_001407887.1:c.2195_2196del
  • NM_001407889.1:c.2195_2196del
  • NM_001407894.1:c.2192_2193del
  • NM_001407895.1:c.2192_2193del
  • NM_001407896.1:c.2192_2193del
  • NM_001407897.1:c.2192_2193del
  • NM_001407898.1:c.2192_2193del
  • NM_001407899.1:c.2192_2193del
  • NM_001407900.1:c.2195_2196del
  • NM_001407902.1:c.2195_2196del
  • NM_001407904.1:c.2195_2196del
  • NM_001407906.1:c.2195_2196del
  • NM_001407907.1:c.2195_2196del
  • NM_001407908.1:c.2195_2196del
  • NM_001407909.1:c.2195_2196del
  • NM_001407910.1:c.2195_2196del
  • NM_001407915.1:c.2192_2193del
  • NM_001407916.1:c.2192_2193del
  • NM_001407917.1:c.2192_2193del
  • NM_001407918.1:c.2192_2193del
  • NM_001407919.1:c.2282_2283del
  • NM_001407920.1:c.2141_2142del
  • NM_001407921.1:c.2141_2142del
  • NM_001407922.1:c.2141_2142del
  • NM_001407923.1:c.2141_2142del
  • NM_001407924.1:c.2141_2142del
  • NM_001407925.1:c.2141_2142del
  • NM_001407926.1:c.2141_2142del
  • NM_001407927.1:c.2141_2142del
  • NM_001407928.1:c.2141_2142del
  • NM_001407929.1:c.2141_2142del
  • NM_001407930.1:c.2138_2139del
  • NM_001407931.1:c.2138_2139del
  • NM_001407932.1:c.2138_2139del
  • NM_001407933.1:c.2141_2142del
  • NM_001407934.1:c.2138_2139del
  • NM_001407935.1:c.2141_2142del
  • NM_001407936.1:c.2138_2139del
  • NM_001407937.1:c.2282_2283del
  • NM_001407938.1:c.2282_2283del
  • NM_001407939.1:c.2282_2283del
  • NM_001407940.1:c.2279_2280del
  • NM_001407941.1:c.2279_2280del
  • NM_001407942.1:c.2264_2265del
  • NM_001407943.1:c.2261_2262del
  • NM_001407944.1:c.2264_2265del
  • NM_001407945.1:c.2264_2265del
  • NM_001407946.1:c.2072_2073del
  • NM_001407947.1:c.2072_2073del
  • NM_001407948.1:c.2072_2073del
  • NM_001407949.1:c.2072_2073del
  • NM_001407950.1:c.2072_2073del
  • NM_001407951.1:c.2072_2073del
  • NM_001407952.1:c.2072_2073del
  • NM_001407953.1:c.2072_2073del
  • NM_001407954.1:c.2069_2070del
  • NM_001407955.1:c.2069_2070del
  • NM_001407956.1:c.2069_2070del
  • NM_001407957.1:c.2072_2073del
  • NM_001407958.1:c.2069_2070del
  • NM_001407959.1:c.2024_2025del
  • NM_001407960.1:c.2024_2025del
  • NM_001407962.1:c.2021_2022del
  • NM_001407963.1:c.2024_2025del
  • NM_001407964.1:c.2261_2262del
  • NM_001407965.1:c.1901_1902del
  • NM_001407966.1:c.1517_1518del
  • NM_001407967.1:c.1517_1518del
  • NM_001407968.1:c.788-991TG[2]
  • NM_001407969.1:c.788-991TG[2]
  • NM_001407970.1:c.787+1614TG[2]
  • NM_001407971.1:c.787+1614TG[2]
  • NM_001407972.1:c.784+1614TG[2]
  • NM_001407973.1:c.787+1614TG[2]
  • NM_001407974.1:c.787+1614TG[2]
  • NM_001407975.1:c.787+1614TG[2]
  • NM_001407976.1:c.787+1614TG[2]
  • NM_001407977.1:c.787+1614TG[2]
  • NM_001407978.1:c.787+1614TG[2]
  • NM_001407979.1:c.787+1614TG[2]
  • NM_001407980.1:c.787+1614TG[2]
  • NM_001407981.1:c.787+1614TG[2]
  • NM_001407982.1:c.787+1614TG[2]
  • NM_001407983.1:c.787+1614TG[2]
  • NM_001407984.1:c.784+1614TG[2]
  • NM_001407985.1:c.784+1614TG[2]
  • NM_001407986.1:c.784+1614TG[2]
  • NM_001407990.1:c.787+1614TG[2]
  • NM_001407991.1:c.784+1614TG[2]
  • NM_001407992.1:c.784+1614TG[2]
  • NM_001407993.1:c.787+1614TG[2]
  • NM_001408392.1:c.784+1614TG[2]
  • NM_001408396.1:c.784+1614TG[2]
  • NM_001408397.1:c.784+1614TG[2]
  • NM_001408398.1:c.784+1614TG[2]
  • NM_001408399.1:c.784+1614TG[2]
  • NM_001408400.1:c.784+1614TG[2]
  • NM_001408401.1:c.784+1614TG[2]
  • NM_001408402.1:c.784+1614TG[2]
  • NM_001408403.1:c.787+1614TG[2]
  • NM_001408404.1:c.787+1614TG[2]
  • NM_001408406.1:c.790+1611TG[2]
  • NM_001408407.1:c.784+1614TG[2]
  • NM_001408408.1:c.778+1614TG[2]
  • NM_001408409.1:c.709+1614TG[2]
  • NM_001408410.1:c.646+1614TG[2]
  • NM_001408411.1:c.709+1614TG[2]
  • NM_001408412.1:c.709+1614TG[2]
  • NM_001408413.1:c.706+1614TG[2]
  • NM_001408414.1:c.709+1614TG[2]
  • NM_001408415.1:c.709+1614TG[2]
  • NM_001408416.1:c.706+1614TG[2]
  • NM_001408418.1:c.671-2098TG[2]
  • NM_001408419.1:c.671-2098TG[2]
  • NM_001408420.1:c.671-2098TG[2]
  • NM_001408421.1:c.668-2098TG[2]
  • NM_001408422.1:c.671-2098TG[2]
  • NM_001408423.1:c.671-2098TG[2]
  • NM_001408424.1:c.668-2098TG[2]
  • NM_001408425.1:c.664+1614TG[2]
  • NM_001408426.1:c.664+1614TG[2]
  • NM_001408427.1:c.664+1614TG[2]
  • NM_001408428.1:c.664+1614TG[2]
  • NM_001408429.1:c.664+1614TG[2]
  • NM_001408430.1:c.664+1614TG[2]
  • NM_001408431.1:c.668-2098TG[2]
  • NM_001408432.1:c.661+1614TG[2]
  • NM_001408433.1:c.661+1614TG[2]
  • NM_001408434.1:c.661+1614TG[2]
  • NM_001408435.1:c.661+1614TG[2]
  • NM_001408436.1:c.664+1614TG[2]
  • NM_001408437.1:c.664+1614TG[2]
  • NM_001408438.1:c.664+1614TG[2]
  • NM_001408439.1:c.664+1614TG[2]
  • NM_001408440.1:c.664+1614TG[2]
  • NM_001408441.1:c.664+1614TG[2]
  • NM_001408442.1:c.664+1614TG[2]
  • NM_001408443.1:c.664+1614TG[2]
  • NM_001408444.1:c.664+1614TG[2]
  • NM_001408445.1:c.661+1614TG[2]
  • NM_001408446.1:c.661+1614TG[2]
  • NM_001408447.1:c.661+1614TG[2]
  • NM_001408448.1:c.661+1614TG[2]
  • NM_001408450.1:c.661+1614TG[2]
  • NM_001408451.1:c.652+1614TG[2]
  • NM_001408452.1:c.646+1614TG[2]
  • NM_001408453.1:c.646+1614TG[2]
  • NM_001408454.1:c.646+1614TG[2]
  • NM_001408455.1:c.646+1614TG[2]
  • NM_001408456.1:c.646+1614TG[2]
  • NM_001408457.1:c.646+1614TG[2]
  • NM_001408458.1:c.646+1614TG[2]
  • NM_001408459.1:c.646+1614TG[2]
  • NM_001408460.1:c.646+1614TG[2]
  • NM_001408461.1:c.646+1614TG[2]
  • NM_001408462.1:c.643+1614TG[2]
  • NM_001408463.1:c.643+1614TG[2]
  • NM_001408464.1:c.643+1614TG[2]
  • NM_001408465.1:c.643+1614TG[2]
  • NM_001408466.1:c.646+1614TG[2]
  • NM_001408467.1:c.646+1614TG[2]
  • NM_001408468.1:c.643+1614TG[2]
  • NM_001408469.1:c.646+1614TG[2]
  • NM_001408470.1:c.643+1614TG[2]
  • NM_001408472.1:c.787+1614TG[2]
  • NM_001408473.1:c.784+1614TG[2]
  • NM_001408474.1:c.586+1614TG[2]
  • NM_001408475.1:c.583+1614TG[2]
  • NM_001408476.1:c.586+1614TG[2]
  • NM_001408478.1:c.577+1614TG[2]
  • NM_001408479.1:c.577+1614TG[2]
  • NM_001408480.1:c.577+1614TG[2]
  • NM_001408481.1:c.577+1614TG[2]
  • NM_001408482.1:c.577+1614TG[2]
  • NM_001408483.1:c.577+1614TG[2]
  • NM_001408484.1:c.577+1614TG[2]
  • NM_001408485.1:c.577+1614TG[2]
  • NM_001408489.1:c.577+1614TG[2]
  • NM_001408490.1:c.574+1614TG[2]
  • NM_001408491.1:c.574+1614TG[2]
  • NM_001408492.1:c.577+1614TG[2]
  • NM_001408493.1:c.574+1614TG[2]
  • NM_001408494.1:c.548-2098TG[2]
  • NM_001408495.1:c.545-2098TG[2]
  • NM_001408496.1:c.523+1614TG[2]
  • NM_001408497.1:c.523+1614TG[2]
  • NM_001408498.1:c.523+1614TG[2]
  • NM_001408499.1:c.523+1614TG[2]
  • NM_001408500.1:c.523+1614TG[2]
  • NM_001408501.1:c.523+1614TG[2]
  • NM_001408502.1:c.454+1614TG[2]
  • NM_001408503.1:c.520+1614TG[2]
  • NM_001408504.1:c.520+1614TG[2]
  • NM_001408505.1:c.520+1614TG[2]
  • NM_001408506.1:c.461-2098TG[2]
  • NM_001408507.1:c.461-2098TG[2]
  • NM_001408508.1:c.451+1614TG[2]
  • NM_001408509.1:c.451+1614TG[2]
  • NM_001408510.1:c.406+1614TG[2]
  • NM_001408511.1:c.404-2098TG[2]
  • NM_001408512.1:c.283+1614TG[2]
  • NM_001408513.1:c.577+1614TG[2]
  • NM_001408514.1:c.577+1614TG[2]
  • NM_007294.4:c.2405_2406delMANE SELECT
  • NM_007297.4:c.2264_2265del
  • NM_007298.4:c.787+1614TG[2]
  • NM_007299.4:c.787+1614TG[2]
  • NM_007300.4:c.2405_2406del
  • NP_001394500.1:p.Val731fs
  • NP_001394510.1:p.Val802fs
  • NP_001394511.1:p.Val802fs
  • NP_001394512.1:p.Val802fs
  • NP_001394514.1:p.Val802fs
  • NP_001394516.1:p.Val801fs
  • NP_001394519.1:p.Val801fs
  • NP_001394520.1:p.Val801fs
  • NP_001394522.1:p.Val802fs
  • NP_001394523.1:p.Val802fs
  • NP_001394525.1:p.Val802fs
  • NP_001394526.1:p.Val802fs
  • NP_001394527.1:p.Val802fs
  • NP_001394531.1:p.Val802fs
  • NP_001394532.1:p.Val802fs
  • NP_001394534.1:p.Val802fs
  • NP_001394539.1:p.Val801fs
  • NP_001394540.1:p.Val801fs
  • NP_001394541.1:p.Val801fs
  • NP_001394542.1:p.Val801fs
  • NP_001394543.1:p.Val801fs
  • NP_001394544.1:p.Val801fs
  • NP_001394545.1:p.Val802fs
  • NP_001394546.1:p.Val802fs
  • NP_001394547.1:p.Val802fs
  • NP_001394548.1:p.Val802fs
  • NP_001394549.1:p.Val802fs
  • NP_001394550.1:p.Val802fs
  • NP_001394551.1:p.Val802fs
  • NP_001394552.1:p.Val802fs
  • NP_001394553.1:p.Val802fs
  • NP_001394554.1:p.Val802fs
  • NP_001394555.1:p.Val802fs
  • NP_001394556.1:p.Val801fs
  • NP_001394557.1:p.Val801fs
  • NP_001394558.1:p.Val801fs
  • NP_001394559.1:p.Val801fs
  • NP_001394560.1:p.Val801fs
  • NP_001394561.1:p.Val801fs
  • NP_001394562.1:p.Val801fs
  • NP_001394563.1:p.Val801fs
  • NP_001394564.1:p.Val801fs
  • NP_001394565.1:p.Val801fs
  • NP_001394566.1:p.Val801fs
  • NP_001394567.1:p.Val801fs
  • NP_001394568.1:p.Val802fs
  • NP_001394569.1:p.Val802fs
  • NP_001394570.1:p.Val802fs
  • NP_001394571.1:p.Val802fs
  • NP_001394573.1:p.Val801fs
  • NP_001394574.1:p.Val801fs
  • NP_001394575.1:p.Val799fs
  • NP_001394576.1:p.Val799fs
  • NP_001394577.1:p.Val761fs
  • NP_001394578.1:p.Val760fs
  • NP_001394581.1:p.Val802fs
  • NP_001394582.1:p.Val776fs
  • NP_001394583.1:p.Val776fs
  • NP_001394584.1:p.Val776fs
  • NP_001394585.1:p.Val776fs
  • NP_001394586.1:p.Val776fs
  • NP_001394587.1:p.Val776fs
  • NP_001394588.1:p.Val775fs
  • NP_001394589.1:p.Val775fs
  • NP_001394590.1:p.Val775fs
  • NP_001394591.1:p.Val775fs
  • NP_001394592.1:p.Val776fs
  • NP_001394593.1:p.Val761fs
  • NP_001394594.1:p.Val761fs
  • NP_001394595.1:p.Val761fs
  • NP_001394596.1:p.Val761fs
  • NP_001394597.1:p.Val761fs
  • NP_001394598.1:p.Val761fs
  • NP_001394599.1:p.Val760fs
  • NP_001394600.1:p.Val760fs
  • NP_001394601.1:p.Val760fs
  • NP_001394602.1:p.Val760fs
  • NP_001394603.1:p.Val761fs
  • NP_001394604.1:p.Val761fs
  • NP_001394605.1:p.Val761fs
  • NP_001394606.1:p.Val761fs
  • NP_001394607.1:p.Val761fs
  • NP_001394608.1:p.Val761fs
  • NP_001394609.1:p.Val761fs
  • NP_001394610.1:p.Val761fs
  • NP_001394611.1:p.Val761fs
  • NP_001394612.1:p.Val761fs
  • NP_001394613.1:p.Val802fs
  • NP_001394614.1:p.Val760fs
  • NP_001394615.1:p.Val760fs
  • NP_001394616.1:p.Val760fs
  • NP_001394617.1:p.Val760fs
  • NP_001394618.1:p.Val760fs
  • NP_001394619.1:p.Val760fs
  • NP_001394620.1:p.Val760fs
  • NP_001394621.1:p.Val755fs
  • NP_001394623.1:p.Val755fs
  • NP_001394624.1:p.Val755fs
  • NP_001394625.1:p.Val755fs
  • NP_001394626.1:p.Val755fs
  • NP_001394627.1:p.Val755fs
  • NP_001394653.1:p.Val755fs
  • NP_001394654.1:p.Val755fs
  • NP_001394655.1:p.Val755fs
  • NP_001394656.1:p.Val755fs
  • NP_001394657.1:p.Val755fs
  • NP_001394658.1:p.Val755fs
  • NP_001394659.1:p.Val755fs
  • NP_001394660.1:p.Val755fs
  • NP_001394661.1:p.Val755fs
  • NP_001394662.1:p.Val755fs
  • NP_001394663.1:p.Val755fs
  • NP_001394664.1:p.Val755fs
  • NP_001394665.1:p.Val755fs
  • NP_001394666.1:p.Val755fs
  • NP_001394667.1:p.Val755fs
  • NP_001394668.1:p.Val755fs
  • NP_001394669.1:p.Val754fs
  • NP_001394670.1:p.Val754fs
  • NP_001394671.1:p.Val754fs
  • NP_001394672.1:p.Val754fs
  • NP_001394673.1:p.Val754fs
  • NP_001394674.1:p.Val754fs
  • NP_001394675.1:p.Val754fs
  • NP_001394676.1:p.Val754fs
  • NP_001394677.1:p.Val754fs
  • NP_001394678.1:p.Val754fs
  • NP_001394679.1:p.Val755fs
  • NP_001394680.1:p.Val755fs
  • NP_001394681.1:p.Val755fs
  • NP_001394767.1:p.Val754fs
  • NP_001394768.1:p.Val754fs
  • NP_001394770.1:p.Val754fs
  • NP_001394771.1:p.Val754fs
  • NP_001394772.1:p.Val754fs
  • NP_001394773.1:p.Val754fs
  • NP_001394774.1:p.Val754fs
  • NP_001394775.1:p.Val754fs
  • NP_001394776.1:p.Val754fs
  • NP_001394777.1:p.Val754fs
  • NP_001394778.1:p.Val754fs
  • NP_001394779.1:p.Val755fs
  • NP_001394780.1:p.Val755fs
  • NP_001394781.1:p.Val755fs
  • NP_001394782.1:p.Val731fs
  • NP_001394783.1:p.Val802fs
  • NP_001394787.1:p.Val802fs
  • NP_001394788.1:p.Val802fs
  • NP_001394789.1:p.Val801fs
  • NP_001394790.1:p.Val801fs
  • NP_001394791.1:p.Val735fs
  • NP_001394792.1:p.Val761fs
  • NP_001394803.1:p.Val734fs
  • NP_001394804.1:p.Val734fs
  • NP_001394808.1:p.Val732fs
  • NP_001394810.1:p.Val732fs
  • NP_001394811.1:p.Val732fs
  • NP_001394813.1:p.Val732fs
  • NP_001394814.1:p.Val732fs
  • NP_001394815.1:p.Val732fs
  • NP_001394816.1:p.Val732fs
  • NP_001394818.1:p.Val732fs
  • NP_001394823.1:p.Val731fs
  • NP_001394824.1:p.Val731fs
  • NP_001394825.1:p.Val731fs
  • NP_001394826.1:p.Val731fs
  • NP_001394827.1:p.Val731fs
  • NP_001394828.1:p.Val731fs
  • NP_001394829.1:p.Val732fs
  • NP_001394831.1:p.Val732fs
  • NP_001394833.1:p.Val732fs
  • NP_001394835.1:p.Val732fs
  • NP_001394836.1:p.Val732fs
  • NP_001394837.1:p.Val732fs
  • NP_001394838.1:p.Val732fs
  • NP_001394839.1:p.Val732fs
  • NP_001394844.1:p.Val731fs
  • NP_001394845.1:p.Val731fs
  • NP_001394846.1:p.Val731fs
  • NP_001394847.1:p.Val731fs
  • NP_001394848.1:p.Val761fs
  • NP_001394849.1:p.Val714fs
  • NP_001394850.1:p.Val714fs
  • NP_001394851.1:p.Val714fs
  • NP_001394852.1:p.Val714fs
  • NP_001394853.1:p.Val714fs
  • NP_001394854.1:p.Val714fs
  • NP_001394855.1:p.Val714fs
  • NP_001394856.1:p.Val714fs
  • NP_001394857.1:p.Val714fs
  • NP_001394858.1:p.Val714fs
  • NP_001394859.1:p.Val713fs
  • NP_001394860.1:p.Val713fs
  • NP_001394861.1:p.Val713fs
  • NP_001394862.1:p.Val714fs
  • NP_001394863.1:p.Val713fs
  • NP_001394864.1:p.Val714fs
  • NP_001394865.1:p.Val713fs
  • NP_001394866.1:p.Val761fs
  • NP_001394867.1:p.Val761fs
  • NP_001394868.1:p.Val761fs
  • NP_001394869.1:p.Val760fs
  • NP_001394870.1:p.Val760fs
  • NP_001394871.1:p.Val755fs
  • NP_001394872.1:p.Val754fs
  • NP_001394873.1:p.Val755fs
  • NP_001394874.1:p.Val755fs
  • NP_001394875.1:p.Val691fs
  • NP_001394876.1:p.Val691fs
  • NP_001394877.1:p.Val691fs
  • NP_001394878.1:p.Val691fs
  • NP_001394879.1:p.Val691fs
  • NP_001394880.1:p.Val691fs
  • NP_001394881.1:p.Val691fs
  • NP_001394882.1:p.Val691fs
  • NP_001394883.1:p.Val690fs
  • NP_001394884.1:p.Val690fs
  • NP_001394885.1:p.Val690fs
  • NP_001394886.1:p.Val691fs
  • NP_001394887.1:p.Val690fs
  • NP_001394888.1:p.Val675fs
  • NP_001394889.1:p.Val675fs
  • NP_001394891.1:p.Val674fs
  • NP_001394892.1:p.Val675fs
  • NP_001394893.1:p.Val754fs
  • NP_001394894.1:p.Val634fs
  • NP_001394895.1:p.Val506fs
  • NP_001394896.1:p.Val506fs
  • NP_009225.1:p.Val802Glufs
  • NP_009225.1:p.Val802fs
  • NP_009228.2:p.Val755fs
  • NP_009231.2:p.Val802fs
  • LRG_292t1:c.2401_2402TG[2]
  • LRG_292:g.124854TG[2]
  • LRG_292p1:p.Val802Glufs
  • NC_000017.10:g.41245142CA[2]
  • NC_000017.10:g.41245142_41245143del
  • NM_007294.3:c.2401_2402TG[2]
  • NM_007294.3:c.2405_2406delTG
  • NR_027676.1:n.2537_2538TG[2]
  • U14680.1:n.2520_2521delTG
  • U14680.1:n.2524_2525delTG
  • p.V802Efs*7
  • p.V802EfsX7
  • p.Val802Glufs*7
Protein change:
V506fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2520&base_change=del TG; Breast Cancer Information Core (BIC) (BRCA1): 2524&base_change=del TG; dbSNP: rs80357706
NCBI 1000 Genomes Browser:
rs80357706
Molecular consequence:
  • NM_001407571.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2396_2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2396_2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2327_2328del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2402_2403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2204_2205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2201_2202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2201_2202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2195_2196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2192_2193del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2141_2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2138_2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2282_2283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2072_2073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2069_2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2024_2025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2024_2025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2021_2022del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2024_2025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2261_2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.1901_1902del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.1517_1518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.1517_1518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2264_2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2405_2406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-991TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-991TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1611TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2098TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1614TG[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000210022GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000210022.6

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Identified in individuals with personal or family history of breast or ovarian cancer (Risch et al., 2001; Liede et al., 2002; Carraro et al., 2013; Azzolini et al., 2016; Brianese et al., 2017; Jara et al., 2017; Rashid et al., 2019; Siraj et al., 2019; Hur et al., 2020; Santonocito et al., 2020; Guindalini et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2524delTG; This variant is associated with the following publications: (PMID: 24884479, 32058061, 20373018, 23469205, 11179017, 27553291, 27062684, 18821011, 12181777, 27836010, 29116469, 25007954, 28985766, 29346284, 27741520, 30720243, 29907814, 11597388, 29922827, 34645131, 35377489, 30825404, 31528241, 32455662, 32438681, 35264596)

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

Last Updated: Nov 24, 2024