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NM_007294.4(BRCA1):c.2019del (p.Glu673fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 9, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000167502.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.2019del (p.Glu673fs)]

NM_007294.4(BRCA1):c.2019del (p.Glu673fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
HGVS:
  • NC_000017.10:g.41245529del
  • NC_000017.11:g.43093513del
  • NG_005905.2:g.124472del
  • NM_001407571.1:c.1806del
  • NM_001407581.1:c.2019del
  • NM_001407582.1:c.2019del
  • NM_001407583.1:c.2019del
  • NM_001407585.1:c.2019del
  • NM_001407587.1:c.2016del
  • NM_001407590.1:c.2016del
  • NM_001407591.1:c.2016del
  • NM_001407593.1:c.2019del
  • NM_001407594.1:c.2019del
  • NM_001407596.1:c.2019del
  • NM_001407597.1:c.2019del
  • NM_001407598.1:c.2019del
  • NM_001407602.1:c.2019del
  • NM_001407603.1:c.2019del
  • NM_001407605.1:c.2019del
  • NM_001407610.1:c.2016del
  • NM_001407611.1:c.2016del
  • NM_001407612.1:c.2016del
  • NM_001407613.1:c.2016del
  • NM_001407614.1:c.2016del
  • NM_001407615.1:c.2016del
  • NM_001407616.1:c.2019del
  • NM_001407617.1:c.2019del
  • NM_001407618.1:c.2019del
  • NM_001407619.1:c.2019del
  • NM_001407620.1:c.2019del
  • NM_001407621.1:c.2019del
  • NM_001407622.1:c.2019del
  • NM_001407623.1:c.2019del
  • NM_001407624.1:c.2019del
  • NM_001407625.1:c.2019del
  • NM_001407626.1:c.2019del
  • NM_001407627.1:c.2016del
  • NM_001407628.1:c.2016del
  • NM_001407629.1:c.2016del
  • NM_001407630.1:c.2016del
  • NM_001407631.1:c.2016del
  • NM_001407632.1:c.2016del
  • NM_001407633.1:c.2016del
  • NM_001407634.1:c.2016del
  • NM_001407635.1:c.2016del
  • NM_001407636.1:c.2016del
  • NM_001407637.1:c.2016del
  • NM_001407638.1:c.2016del
  • NM_001407639.1:c.2019del
  • NM_001407640.1:c.2019del
  • NM_001407641.1:c.2019del
  • NM_001407642.1:c.2019del
  • NM_001407644.1:c.2016del
  • NM_001407645.1:c.2016del
  • NM_001407646.1:c.2010del
  • NM_001407647.1:c.2010del
  • NM_001407648.1:c.1896del
  • NM_001407649.1:c.1893del
  • NM_001407652.1:c.2019del
  • NM_001407653.1:c.1941del
  • NM_001407654.1:c.1941del
  • NM_001407655.1:c.1941del
  • NM_001407656.1:c.1941del
  • NM_001407657.1:c.1941del
  • NM_001407658.1:c.1941del
  • NM_001407659.1:c.1938del
  • NM_001407660.1:c.1938del
  • NM_001407661.1:c.1938del
  • NM_001407662.1:c.1938del
  • NM_001407663.1:c.1941del
  • NM_001407664.1:c.1896del
  • NM_001407665.1:c.1896del
  • NM_001407666.1:c.1896del
  • NM_001407667.1:c.1896del
  • NM_001407668.1:c.1896del
  • NM_001407669.1:c.1896del
  • NM_001407670.1:c.1893del
  • NM_001407671.1:c.1893del
  • NM_001407672.1:c.1893del
  • NM_001407673.1:c.1893del
  • NM_001407674.1:c.1896del
  • NM_001407675.1:c.1896del
  • NM_001407676.1:c.1896del
  • NM_001407677.1:c.1896del
  • NM_001407678.1:c.1896del
  • NM_001407679.1:c.1896del
  • NM_001407680.1:c.1896del
  • NM_001407681.1:c.1896del
  • NM_001407682.1:c.1896del
  • NM_001407683.1:c.1896del
  • NM_001407684.1:c.2019del
  • NM_001407685.1:c.1893del
  • NM_001407686.1:c.1893del
  • NM_001407687.1:c.1893del
  • NM_001407688.1:c.1893del
  • NM_001407689.1:c.1893del
  • NM_001407690.1:c.1893del
  • NM_001407691.1:c.1893del
  • NM_001407692.1:c.1878del
  • NM_001407694.1:c.1878del
  • NM_001407695.1:c.1878del
  • NM_001407696.1:c.1878del
  • NM_001407697.1:c.1878del
  • NM_001407698.1:c.1878del
  • NM_001407724.1:c.1878del
  • NM_001407725.1:c.1878del
  • NM_001407726.1:c.1878del
  • NM_001407727.1:c.1878del
  • NM_001407728.1:c.1878del
  • NM_001407729.1:c.1878del
  • NM_001407730.1:c.1878del
  • NM_001407731.1:c.1878del
  • NM_001407732.1:c.1878del
  • NM_001407733.1:c.1878del
  • NM_001407734.1:c.1878del
  • NM_001407735.1:c.1878del
  • NM_001407736.1:c.1878del
  • NM_001407737.1:c.1878del
  • NM_001407738.1:c.1878del
  • NM_001407739.1:c.1878del
  • NM_001407740.1:c.1875del
  • NM_001407741.1:c.1875del
  • NM_001407742.1:c.1875del
  • NM_001407743.1:c.1875del
  • NM_001407744.1:c.1875del
  • NM_001407745.1:c.1875del
  • NM_001407746.1:c.1875del
  • NM_001407747.1:c.1875del
  • NM_001407748.1:c.1875del
  • NM_001407749.1:c.1875del
  • NM_001407750.1:c.1878del
  • NM_001407751.1:c.1878del
  • NM_001407752.1:c.1878del
  • NM_001407838.1:c.1875del
  • NM_001407839.1:c.1875del
  • NM_001407841.1:c.1875del
  • NM_001407842.1:c.1875del
  • NM_001407843.1:c.1875del
  • NM_001407844.1:c.1875del
  • NM_001407845.1:c.1875del
  • NM_001407846.1:c.1875del
  • NM_001407847.1:c.1875del
  • NM_001407848.1:c.1875del
  • NM_001407849.1:c.1875del
  • NM_001407850.1:c.1878del
  • NM_001407851.1:c.1878del
  • NM_001407852.1:c.1878del
  • NM_001407853.1:c.1806del
  • NM_001407854.1:c.2019del
  • NM_001407858.1:c.2019del
  • NM_001407859.1:c.2019del
  • NM_001407860.1:c.2016del
  • NM_001407861.1:c.2016del
  • NM_001407862.1:c.1818del
  • NM_001407863.1:c.1896del
  • NM_001407874.1:c.1815del
  • NM_001407875.1:c.1815del
  • NM_001407879.1:c.1809del
  • NM_001407881.1:c.1809del
  • NM_001407882.1:c.1809del
  • NM_001407884.1:c.1809del
  • NM_001407885.1:c.1809del
  • NM_001407886.1:c.1809del
  • NM_001407887.1:c.1809del
  • NM_001407889.1:c.1809del
  • NM_001407894.1:c.1806del
  • NM_001407895.1:c.1806del
  • NM_001407896.1:c.1806del
  • NM_001407897.1:c.1806del
  • NM_001407898.1:c.1806del
  • NM_001407899.1:c.1806del
  • NM_001407900.1:c.1809del
  • NM_001407902.1:c.1809del
  • NM_001407904.1:c.1809del
  • NM_001407906.1:c.1809del
  • NM_001407907.1:c.1809del
  • NM_001407908.1:c.1809del
  • NM_001407909.1:c.1809del
  • NM_001407910.1:c.1809del
  • NM_001407915.1:c.1806del
  • NM_001407916.1:c.1806del
  • NM_001407917.1:c.1806del
  • NM_001407918.1:c.1806del
  • NM_001407919.1:c.1896del
  • NM_001407920.1:c.1755del
  • NM_001407921.1:c.1755del
  • NM_001407922.1:c.1755del
  • NM_001407923.1:c.1755del
  • NM_001407924.1:c.1755del
  • NM_001407925.1:c.1755del
  • NM_001407926.1:c.1755del
  • NM_001407927.1:c.1755del
  • NM_001407928.1:c.1755del
  • NM_001407929.1:c.1755del
  • NM_001407930.1:c.1752del
  • NM_001407931.1:c.1752del
  • NM_001407932.1:c.1752del
  • NM_001407933.1:c.1755del
  • NM_001407934.1:c.1752del
  • NM_001407935.1:c.1755del
  • NM_001407936.1:c.1752del
  • NM_001407937.1:c.1896del
  • NM_001407938.1:c.1896del
  • NM_001407939.1:c.1896del
  • NM_001407940.1:c.1893del
  • NM_001407941.1:c.1893del
  • NM_001407942.1:c.1878del
  • NM_001407943.1:c.1875del
  • NM_001407944.1:c.1878del
  • NM_001407945.1:c.1878del
  • NM_001407946.1:c.1686del
  • NM_001407947.1:c.1686del
  • NM_001407948.1:c.1686del
  • NM_001407949.1:c.1686del
  • NM_001407950.1:c.1686del
  • NM_001407951.1:c.1686del
  • NM_001407952.1:c.1686del
  • NM_001407953.1:c.1686del
  • NM_001407954.1:c.1683del
  • NM_001407955.1:c.1683del
  • NM_001407956.1:c.1683del
  • NM_001407957.1:c.1686del
  • NM_001407958.1:c.1683del
  • NM_001407959.1:c.1638del
  • NM_001407960.1:c.1638del
  • NM_001407962.1:c.1635del
  • NM_001407963.1:c.1638del
  • NM_001407964.1:c.1875del
  • NM_001407965.1:c.1515del
  • NM_001407966.1:c.1131del
  • NM_001407967.1:c.1131del
  • NM_001407968.1:c.787+1232del
  • NM_001407969.1:c.787+1232del
  • NM_001407970.1:c.787+1232del
  • NM_001407971.1:c.787+1232del
  • NM_001407972.1:c.784+1232del
  • NM_001407973.1:c.787+1232del
  • NM_001407974.1:c.787+1232del
  • NM_001407975.1:c.787+1232del
  • NM_001407976.1:c.787+1232del
  • NM_001407977.1:c.787+1232del
  • NM_001407978.1:c.787+1232del
  • NM_001407979.1:c.787+1232del
  • NM_001407980.1:c.787+1232del
  • NM_001407981.1:c.787+1232del
  • NM_001407982.1:c.787+1232del
  • NM_001407983.1:c.787+1232del
  • NM_001407984.1:c.784+1232del
  • NM_001407985.1:c.784+1232del
  • NM_001407986.1:c.784+1232del
  • NM_001407990.1:c.787+1232del
  • NM_001407991.1:c.784+1232del
  • NM_001407992.1:c.784+1232del
  • NM_001407993.1:c.787+1232del
  • NM_001408392.1:c.784+1232del
  • NM_001408396.1:c.784+1232del
  • NM_001408397.1:c.784+1232del
  • NM_001408398.1:c.784+1232del
  • NM_001408399.1:c.784+1232del
  • NM_001408400.1:c.784+1232del
  • NM_001408401.1:c.784+1232del
  • NM_001408402.1:c.784+1232del
  • NM_001408403.1:c.787+1232del
  • NM_001408404.1:c.787+1232del
  • NM_001408406.1:c.790+1229del
  • NM_001408407.1:c.784+1232del
  • NM_001408408.1:c.778+1232del
  • NM_001408409.1:c.709+1232del
  • NM_001408410.1:c.646+1232del
  • NM_001408411.1:c.709+1232del
  • NM_001408412.1:c.709+1232del
  • NM_001408413.1:c.706+1232del
  • NM_001408414.1:c.709+1232del
  • NM_001408415.1:c.709+1232del
  • NM_001408416.1:c.706+1232del
  • NM_001408418.1:c.670+2334del
  • NM_001408419.1:c.670+2334del
  • NM_001408420.1:c.670+2334del
  • NM_001408421.1:c.667+2334del
  • NM_001408422.1:c.670+2334del
  • NM_001408423.1:c.670+2334del
  • NM_001408424.1:c.667+2334del
  • NM_001408425.1:c.664+1232del
  • NM_001408426.1:c.664+1232del
  • NM_001408427.1:c.664+1232del
  • NM_001408428.1:c.664+1232del
  • NM_001408429.1:c.664+1232del
  • NM_001408430.1:c.664+1232del
  • NM_001408431.1:c.667+2334del
  • NM_001408432.1:c.661+1232del
  • NM_001408433.1:c.661+1232del
  • NM_001408434.1:c.661+1232del
  • NM_001408435.1:c.661+1232del
  • NM_001408436.1:c.664+1232del
  • NM_001408437.1:c.664+1232del
  • NM_001408438.1:c.664+1232del
  • NM_001408439.1:c.664+1232del
  • NM_001408440.1:c.664+1232del
  • NM_001408441.1:c.664+1232del
  • NM_001408442.1:c.664+1232del
  • NM_001408443.1:c.664+1232del
  • NM_001408444.1:c.664+1232del
  • NM_001408445.1:c.661+1232del
  • NM_001408446.1:c.661+1232del
  • NM_001408447.1:c.661+1232del
  • NM_001408448.1:c.661+1232del
  • NM_001408450.1:c.661+1232del
  • NM_001408451.1:c.652+1232del
  • NM_001408452.1:c.646+1232del
  • NM_001408453.1:c.646+1232del
  • NM_001408454.1:c.646+1232del
  • NM_001408455.1:c.646+1232del
  • NM_001408456.1:c.646+1232del
  • NM_001408457.1:c.646+1232del
  • NM_001408458.1:c.646+1232del
  • NM_001408459.1:c.646+1232del
  • NM_001408460.1:c.646+1232del
  • NM_001408461.1:c.646+1232del
  • NM_001408462.1:c.643+1232del
  • NM_001408463.1:c.643+1232del
  • NM_001408464.1:c.643+1232del
  • NM_001408465.1:c.643+1232del
  • NM_001408466.1:c.646+1232del
  • NM_001408467.1:c.646+1232del
  • NM_001408468.1:c.643+1232del
  • NM_001408469.1:c.646+1232del
  • NM_001408470.1:c.643+1232del
  • NM_001408472.1:c.787+1232del
  • NM_001408473.1:c.784+1232del
  • NM_001408474.1:c.586+1232del
  • NM_001408475.1:c.583+1232del
  • NM_001408476.1:c.586+1232del
  • NM_001408478.1:c.577+1232del
  • NM_001408479.1:c.577+1232del
  • NM_001408480.1:c.577+1232del
  • NM_001408481.1:c.577+1232del
  • NM_001408482.1:c.577+1232del
  • NM_001408483.1:c.577+1232del
  • NM_001408484.1:c.577+1232del
  • NM_001408485.1:c.577+1232del
  • NM_001408489.1:c.577+1232del
  • NM_001408490.1:c.574+1232del
  • NM_001408491.1:c.574+1232del
  • NM_001408492.1:c.577+1232del
  • NM_001408493.1:c.574+1232del
  • NM_001408494.1:c.548-2480del
  • NM_001408495.1:c.545-2480del
  • NM_001408496.1:c.523+1232del
  • NM_001408497.1:c.523+1232del
  • NM_001408498.1:c.523+1232del
  • NM_001408499.1:c.523+1232del
  • NM_001408500.1:c.523+1232del
  • NM_001408501.1:c.523+1232del
  • NM_001408502.1:c.454+1232del
  • NM_001408503.1:c.520+1232del
  • NM_001408504.1:c.520+1232del
  • NM_001408505.1:c.520+1232del
  • NM_001408506.1:c.460+2334del
  • NM_001408507.1:c.460+2334del
  • NM_001408508.1:c.451+1232del
  • NM_001408509.1:c.451+1232del
  • NM_001408510.1:c.406+1232del
  • NM_001408511.1:c.404-2480del
  • NM_001408512.1:c.283+1232del
  • NM_001408513.1:c.577+1232del
  • NM_001408514.1:c.577+1232del
  • NM_007294.4:c.2019delMANE SELECT
  • NM_007297.4:c.1878del
  • NM_007298.4:c.787+1232del
  • NM_007299.4:c.787+1232del
  • NM_007300.4:c.2019del
  • NP_001394500.1:p.Glu602fs
  • NP_001394510.1:p.Glu673fs
  • NP_001394511.1:p.Glu673fs
  • NP_001394512.1:p.Glu673fs
  • NP_001394514.1:p.Glu673fs
  • NP_001394516.1:p.Glu672fs
  • NP_001394519.1:p.Glu672fs
  • NP_001394520.1:p.Glu672fs
  • NP_001394522.1:p.Glu673fs
  • NP_001394523.1:p.Glu673fs
  • NP_001394525.1:p.Glu673fs
  • NP_001394526.1:p.Glu673fs
  • NP_001394527.1:p.Glu673fs
  • NP_001394531.1:p.Glu673fs
  • NP_001394532.1:p.Glu673fs
  • NP_001394534.1:p.Glu673fs
  • NP_001394539.1:p.Glu672fs
  • NP_001394540.1:p.Glu672fs
  • NP_001394541.1:p.Glu672fs
  • NP_001394542.1:p.Glu672fs
  • NP_001394543.1:p.Glu672fs
  • NP_001394544.1:p.Glu672fs
  • NP_001394545.1:p.Glu673fs
  • NP_001394546.1:p.Glu673fs
  • NP_001394547.1:p.Glu673fs
  • NP_001394548.1:p.Glu673fs
  • NP_001394549.1:p.Glu673fs
  • NP_001394550.1:p.Glu673fs
  • NP_001394551.1:p.Glu673fs
  • NP_001394552.1:p.Glu673fs
  • NP_001394553.1:p.Glu673fs
  • NP_001394554.1:p.Glu673fs
  • NP_001394555.1:p.Glu673fs
  • NP_001394556.1:p.Glu672fs
  • NP_001394557.1:p.Glu672fs
  • NP_001394558.1:p.Glu672fs
  • NP_001394559.1:p.Glu672fs
  • NP_001394560.1:p.Glu672fs
  • NP_001394561.1:p.Glu672fs
  • NP_001394562.1:p.Glu672fs
  • NP_001394563.1:p.Glu672fs
  • NP_001394564.1:p.Glu672fs
  • NP_001394565.1:p.Glu672fs
  • NP_001394566.1:p.Glu672fs
  • NP_001394567.1:p.Glu672fs
  • NP_001394568.1:p.Glu673fs
  • NP_001394569.1:p.Glu673fs
  • NP_001394570.1:p.Glu673fs
  • NP_001394571.1:p.Glu673fs
  • NP_001394573.1:p.Glu672fs
  • NP_001394574.1:p.Glu672fs
  • NP_001394575.1:p.Glu670fs
  • NP_001394576.1:p.Glu670fs
  • NP_001394577.1:p.Glu632fs
  • NP_001394578.1:p.Glu631fs
  • NP_001394581.1:p.Glu673fs
  • NP_001394582.1:p.Glu647fs
  • NP_001394583.1:p.Glu647fs
  • NP_001394584.1:p.Glu647fs
  • NP_001394585.1:p.Glu647fs
  • NP_001394586.1:p.Glu647fs
  • NP_001394587.1:p.Glu647fs
  • NP_001394588.1:p.Glu646fs
  • NP_001394589.1:p.Glu646fs
  • NP_001394590.1:p.Glu646fs
  • NP_001394591.1:p.Glu646fs
  • NP_001394592.1:p.Glu647fs
  • NP_001394593.1:p.Glu632fs
  • NP_001394594.1:p.Glu632fs
  • NP_001394595.1:p.Glu632fs
  • NP_001394596.1:p.Glu632fs
  • NP_001394597.1:p.Glu632fs
  • NP_001394598.1:p.Glu632fs
  • NP_001394599.1:p.Glu631fs
  • NP_001394600.1:p.Glu631fs
  • NP_001394601.1:p.Glu631fs
  • NP_001394602.1:p.Glu631fs
  • NP_001394603.1:p.Glu632fs
  • NP_001394604.1:p.Glu632fs
  • NP_001394605.1:p.Glu632fs
  • NP_001394606.1:p.Glu632fs
  • NP_001394607.1:p.Glu632fs
  • NP_001394608.1:p.Glu632fs
  • NP_001394609.1:p.Glu632fs
  • NP_001394610.1:p.Glu632fs
  • NP_001394611.1:p.Glu632fs
  • NP_001394612.1:p.Glu632fs
  • NP_001394613.1:p.Glu673fs
  • NP_001394614.1:p.Glu631fs
  • NP_001394615.1:p.Glu631fs
  • NP_001394616.1:p.Glu631fs
  • NP_001394617.1:p.Glu631fs
  • NP_001394618.1:p.Glu631fs
  • NP_001394619.1:p.Glu631fs
  • NP_001394620.1:p.Glu631fs
  • NP_001394621.1:p.Glu626fs
  • NP_001394623.1:p.Glu626fs
  • NP_001394624.1:p.Glu626fs
  • NP_001394625.1:p.Glu626fs
  • NP_001394626.1:p.Glu626fs
  • NP_001394627.1:p.Glu626fs
  • NP_001394653.1:p.Glu626fs
  • NP_001394654.1:p.Glu626fs
  • NP_001394655.1:p.Glu626fs
  • NP_001394656.1:p.Glu626fs
  • NP_001394657.1:p.Glu626fs
  • NP_001394658.1:p.Glu626fs
  • NP_001394659.1:p.Glu626fs
  • NP_001394660.1:p.Glu626fs
  • NP_001394661.1:p.Glu626fs
  • NP_001394662.1:p.Glu626fs
  • NP_001394663.1:p.Glu626fs
  • NP_001394664.1:p.Glu626fs
  • NP_001394665.1:p.Glu626fs
  • NP_001394666.1:p.Glu626fs
  • NP_001394667.1:p.Glu626fs
  • NP_001394668.1:p.Glu626fs
  • NP_001394669.1:p.Glu625fs
  • NP_001394670.1:p.Glu625fs
  • NP_001394671.1:p.Glu625fs
  • NP_001394672.1:p.Glu625fs
  • NP_001394673.1:p.Glu625fs
  • NP_001394674.1:p.Glu625fs
  • NP_001394675.1:p.Glu625fs
  • NP_001394676.1:p.Glu625fs
  • NP_001394677.1:p.Glu625fs
  • NP_001394678.1:p.Glu625fs
  • NP_001394679.1:p.Glu626fs
  • NP_001394680.1:p.Glu626fs
  • NP_001394681.1:p.Glu626fs
  • NP_001394767.1:p.Glu625fs
  • NP_001394768.1:p.Glu625fs
  • NP_001394770.1:p.Glu625fs
  • NP_001394771.1:p.Glu625fs
  • NP_001394772.1:p.Glu625fs
  • NP_001394773.1:p.Glu625fs
  • NP_001394774.1:p.Glu625fs
  • NP_001394775.1:p.Glu625fs
  • NP_001394776.1:p.Glu625fs
  • NP_001394777.1:p.Glu625fs
  • NP_001394778.1:p.Glu625fs
  • NP_001394779.1:p.Glu626fs
  • NP_001394780.1:p.Glu626fs
  • NP_001394781.1:p.Glu626fs
  • NP_001394782.1:p.Glu602fs
  • NP_001394783.1:p.Glu673fs
  • NP_001394787.1:p.Glu673fs
  • NP_001394788.1:p.Glu673fs
  • NP_001394789.1:p.Glu672fs
  • NP_001394790.1:p.Glu672fs
  • NP_001394791.1:p.Glu606fs
  • NP_001394792.1:p.Glu632fs
  • NP_001394803.1:p.Glu605fs
  • NP_001394804.1:p.Glu605fs
  • NP_001394808.1:p.Glu603fs
  • NP_001394810.1:p.Glu603fs
  • NP_001394811.1:p.Glu603fs
  • NP_001394813.1:p.Glu603fs
  • NP_001394814.1:p.Glu603fs
  • NP_001394815.1:p.Glu603fs
  • NP_001394816.1:p.Glu603fs
  • NP_001394818.1:p.Glu603fs
  • NP_001394823.1:p.Glu602fs
  • NP_001394824.1:p.Glu602fs
  • NP_001394825.1:p.Glu602fs
  • NP_001394826.1:p.Glu602fs
  • NP_001394827.1:p.Glu602fs
  • NP_001394828.1:p.Glu602fs
  • NP_001394829.1:p.Glu603fs
  • NP_001394831.1:p.Glu603fs
  • NP_001394833.1:p.Glu603fs
  • NP_001394835.1:p.Glu603fs
  • NP_001394836.1:p.Glu603fs
  • NP_001394837.1:p.Glu603fs
  • NP_001394838.1:p.Glu603fs
  • NP_001394839.1:p.Glu603fs
  • NP_001394844.1:p.Glu602fs
  • NP_001394845.1:p.Glu602fs
  • NP_001394846.1:p.Glu602fs
  • NP_001394847.1:p.Glu602fs
  • NP_001394848.1:p.Glu632fs
  • NP_001394849.1:p.Glu585fs
  • NP_001394850.1:p.Glu585fs
  • NP_001394851.1:p.Glu585fs
  • NP_001394852.1:p.Glu585fs
  • NP_001394853.1:p.Glu585fs
  • NP_001394854.1:p.Glu585fs
  • NP_001394855.1:p.Glu585fs
  • NP_001394856.1:p.Glu585fs
  • NP_001394857.1:p.Glu585fs
  • NP_001394858.1:p.Glu585fs
  • NP_001394859.1:p.Glu584fs
  • NP_001394860.1:p.Glu584fs
  • NP_001394861.1:p.Glu584fs
  • NP_001394862.1:p.Glu585fs
  • NP_001394863.1:p.Glu584fs
  • NP_001394864.1:p.Glu585fs
  • NP_001394865.1:p.Glu584fs
  • NP_001394866.1:p.Glu632fs
  • NP_001394867.1:p.Glu632fs
  • NP_001394868.1:p.Glu632fs
  • NP_001394869.1:p.Glu631fs
  • NP_001394870.1:p.Glu631fs
  • NP_001394871.1:p.Glu626fs
  • NP_001394872.1:p.Glu625fs
  • NP_001394873.1:p.Glu626fs
  • NP_001394874.1:p.Glu626fs
  • NP_001394875.1:p.Glu562fs
  • NP_001394876.1:p.Glu562fs
  • NP_001394877.1:p.Glu562fs
  • NP_001394878.1:p.Glu562fs
  • NP_001394879.1:p.Glu562fs
  • NP_001394880.1:p.Glu562fs
  • NP_001394881.1:p.Glu562fs
  • NP_001394882.1:p.Glu562fs
  • NP_001394883.1:p.Glu561fs
  • NP_001394884.1:p.Glu561fs
  • NP_001394885.1:p.Glu561fs
  • NP_001394886.1:p.Glu562fs
  • NP_001394887.1:p.Glu561fs
  • NP_001394888.1:p.Glu546fs
  • NP_001394889.1:p.Glu546fs
  • NP_001394891.1:p.Glu545fs
  • NP_001394892.1:p.Glu546fs
  • NP_001394893.1:p.Glu625fs
  • NP_001394894.1:p.Glu505fs
  • NP_001394895.1:p.Glu377fs
  • NP_001394896.1:p.Glu377fs
  • NP_009225.1:p.Glu673Aspfs
  • NP_009225.1:p.Glu673fs
  • NP_009228.2:p.Glu626fs
  • NP_009231.2:p.Glu673fs
  • LRG_292t1:c.2018del
  • LRG_292:g.124472del
  • LRG_292p1:p.Glu673Aspfs
  • NC_000017.10:g.41245529del
  • NC_000017.10:g.41245529delT
  • NC_000017.10:g.41245530del
  • NC_000017.10:g.41245530del
  • NM_007294.3:c.2018delA
  • NM_007294.3:c.2019delA
  • NM_007294.4:c.2019del
  • NR_027676.1:n.2154delA
  • U14680.1:n.2138delA
  • p.E673DFS*28
Nucleotide change:
2138delA
Protein change:
E377fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2138&base_change=del A; dbSNP: rs80357626
NCBI 1000 Genomes Browser:
rs80357626
Molecular consequence:
  • NM_001407571.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2010del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2010del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.1941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.1941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.1941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.1941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.1941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.1941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.1938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.1938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.1938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.1938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.1941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.1818del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.1815del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.1815del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.1809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.1806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.1752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.1752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.1752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.1752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.1752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.1896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.1893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.1683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.1683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.1683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.1686del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.1683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.1638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.1638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.1635del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.1638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.1875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.1515del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.1131del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.1131del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1229del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2480del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2480del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2480del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1232del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1232del - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000218360Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 9, 2022) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV000688362Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 15, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases.

Yazici H, Glendon G, Yazici H, Burnie SJ, Saip P, Buyru F, Bengisu E, Andrulis IL, Dalay N, Ozcelik H.

Hum Mutat. 2002 Jul;20(1):28-34.

PubMed [citation]
PMID:
12112655

Understanding germ-line mutations in BRCA1.

Szabo CI, Worley T, Monteiro AN.

Cancer Biol Ther. 2004 Jun;3(6):515-20. Epub 2004 Jun 1. Review.

PubMed [citation]
PMID:
15254424
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000218360.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The c.2019delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2019, causing a translational frameshift with a predicted alternate stop codon (p.E673Dfs*28). This deletion has been reported in numerous high risk breast and/or ovarian cancer families (Yazici H, Hum. Mutat. 2002 Jul; 20(1):28-34, van der Hout AH, Hum. Mutat. 2006 Jul; 27(7):654-66, Dobrii J, J. Hum. Genet. 2013 Aug; 58(8):501-7; Jacobi CE et al. Genet. Med. 2007 Mar;9(3):173-9; Hermsen BB et al. Int. J. Cancer 2006 Sep;119(6):1412-8; Dacheva D et al. Mol Diagn Ther 2015 Apr;19(2):119-30). Of note, this alteration is also designated as 2137delA and 2138delA in published literature. 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.

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

From Color Diagnostics, LLC DBA Color Health, SCV000688362.3

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

Description

This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Oct 13, 2024