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NM_007294.4(BRCA1):c.5419del (p.Ile1807fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 15, 2020
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:
RCV001185951.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)]

NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)

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.5419del (p.Ile1807fs)
Other names:
5537delA
HGVS:
  • NC_000017.11:g.43047692del
  • NG_005905.2:g.170293del
  • NM_001407571.1:c.5205delA
  • NM_001407581.1:c.5484delA
  • NM_001407582.1:c.5484delA
  • NM_001407583.1:c.5481delA
  • NM_001407585.1:c.5481delA
  • NM_001407587.1:c.5481delA
  • NM_001407590.1:c.5478delA
  • NM_001407591.1:c.5478delA
  • NM_001407593.1:c.5418delA
  • NM_001407594.1:c.5418delA
  • NM_001407596.1:c.5418delA
  • NM_001407597.1:c.5418delA
  • NM_001407598.1:c.5418delA
  • NM_001407602.1:c.5418delA
  • NM_001407603.1:c.5418delA
  • NM_001407605.1:c.5418delA
  • NM_001407610.1:c.5415delA
  • NM_001407611.1:c.5415delA
  • NM_001407612.1:c.5415delA
  • NM_001407613.1:c.5415delA
  • NM_001407614.1:c.5415delA
  • NM_001407615.1:c.5415delA
  • NM_001407616.1:c.5415delA
  • NM_001407617.1:c.5415delA
  • NM_001407618.1:c.5415delA
  • NM_001407619.1:c.5415delA
  • NM_001407620.1:c.5415delA
  • NM_001407621.1:c.5415delA
  • NM_001407622.1:c.5415delA
  • NM_001407623.1:c.5415delA
  • NM_001407624.1:c.5415delA
  • NM_001407625.1:c.5415delA
  • NM_001407626.1:c.5415delA
  • NM_001407627.1:c.5412delA
  • NM_001407628.1:c.5412delA
  • NM_001407629.1:c.5412delA
  • NM_001407630.1:c.5412delA
  • NM_001407631.1:c.5412delA
  • NM_001407632.1:c.5412delA
  • NM_001407633.1:c.5412delA
  • NM_001407634.1:c.5412delA
  • NM_001407635.1:c.5412delA
  • NM_001407636.1:c.5412delA
  • NM_001407637.1:c.5412delA
  • NM_001407638.1:c.5412delA
  • NM_001407639.1:c.5412delA
  • NM_001407640.1:c.5412delA
  • NM_001407641.1:c.5412delA
  • NM_001407642.1:c.5412delA
  • NM_001407644.1:c.5409delA
  • NM_001407645.1:c.5409delA
  • NM_001407646.1:c.5406delA
  • NM_001407647.1:c.5403delA
  • NM_001407648.1:c.5361delA
  • NM_001407649.1:c.5358delA
  • NM_001407652.1:c.5340delA
  • NM_001407653.1:c.5340delA
  • NM_001407654.1:c.5340delA
  • NM_001407655.1:c.5340delA
  • NM_001407656.1:c.5337delA
  • NM_001407657.1:c.5337delA
  • NM_001407658.1:c.5337delA
  • NM_001407659.1:c.5334delA
  • NM_001407660.1:c.5334delA
  • NM_001407661.1:c.5334delA
  • NM_001407662.1:c.5334delA
  • NM_001407663.1:c.5334delA
  • NM_001407664.1:c.5295delA
  • NM_001407665.1:c.5295delA
  • NM_001407666.1:c.5295delA
  • NM_001407667.1:c.5295delA
  • NM_001407668.1:c.5295delA
  • NM_001407669.1:c.5295delA
  • NM_001407670.1:c.5292delA
  • NM_001407671.1:c.5292delA
  • NM_001407672.1:c.5292delA
  • NM_001407673.1:c.5292delA
  • NM_001407674.1:c.5292delA
  • NM_001407675.1:c.5292delA
  • NM_001407676.1:c.5292delA
  • NM_001407677.1:c.5292delA
  • NM_001407678.1:c.5292delA
  • NM_001407679.1:c.5292delA
  • NM_001407680.1:c.5292delA
  • NM_001407681.1:c.5289delA
  • NM_001407682.1:c.5289delA
  • NM_001407683.1:c.5289delA
  • NM_001407684.1:c.5289delA
  • NM_001407685.1:c.5289delA
  • NM_001407686.1:c.5289delA
  • NM_001407687.1:c.5289delA
  • NM_001407688.1:c.5289delA
  • NM_001407689.1:c.5289delA
  • NM_001407690.1:c.5286delA
  • NM_001407691.1:c.5286delA
  • NM_001407692.1:c.5277delA
  • NM_001407694.1:c.5277delA
  • NM_001407695.1:c.5277delA
  • NM_001407696.1:c.5277delA
  • NM_001407697.1:c.5277delA
  • NM_001407698.1:c.5277delA
  • NM_001407724.1:c.5277delA
  • NM_001407725.1:c.5277delA
  • NM_001407726.1:c.5277delA
  • NM_001407727.1:c.5277delA
  • NM_001407728.1:c.5277delA
  • NM_001407729.1:c.5277delA
  • NM_001407730.1:c.5277delA
  • NM_001407731.1:c.5277delA
  • NM_001407732.1:c.5274delA
  • NM_001407733.1:c.5274delA
  • NM_001407734.1:c.5274delA
  • NM_001407735.1:c.5274delA
  • NM_001407736.1:c.5274delA
  • NM_001407737.1:c.5274delA
  • NM_001407738.1:c.5274delA
  • NM_001407739.1:c.5274delA
  • NM_001407740.1:c.5274delA
  • NM_001407741.1:c.5274delA
  • NM_001407742.1:c.5274delA
  • NM_001407743.1:c.5274delA
  • NM_001407744.1:c.5274delA
  • NM_001407745.1:c.5274delA
  • NM_001407746.1:c.5274delA
  • NM_001407747.1:c.5274delA
  • NM_001407748.1:c.5274delA
  • NM_001407749.1:c.5274delA
  • NM_001407750.1:c.5274delA
  • NM_001407751.1:c.5274delA
  • NM_001407752.1:c.5274delA
  • NM_001407838.1:c.5271delA
  • NM_001407839.1:c.5271delA
  • NM_001407841.1:c.5271delA
  • NM_001407842.1:c.5271delA
  • NM_001407843.1:c.5271delA
  • NM_001407844.1:c.5271delA
  • NM_001407845.1:c.5271delA
  • NM_001407846.1:c.5271delA
  • NM_001407847.1:c.5271delA
  • NM_001407848.1:c.5271delA
  • NM_001407849.1:c.5271delA
  • NM_001407850.1:c.5271delA
  • NM_001407851.1:c.5271delA
  • NM_001407852.1:c.5271delA
  • NM_001407853.1:c.5271delA
  • NM_001407854.1:c.5344delA
  • NM_001407858.1:c.5341delA
  • NM_001407859.1:c.5341delA
  • NM_001407860.1:c.5341delA
  • NM_001407861.1:c.5338delA
  • NM_001407862.1:c.5217delA
  • NM_001407863.1:c.5214delA
  • NM_001407874.1:c.5211delA
  • NM_001407875.1:c.5211delA
  • NM_001407879.1:c.5208delA
  • NM_001407881.1:c.5208delA
  • NM_001407882.1:c.5208delA
  • NM_001407884.1:c.5208delA
  • NM_001407885.1:c.5208delA
  • NM_001407886.1:c.5208delA
  • NM_001407887.1:c.5208delA
  • NM_001407889.1:c.5208delA
  • NM_001407894.1:c.5205delA
  • NM_001407895.1:c.5205delA
  • NM_001407896.1:c.5205delA
  • NM_001407897.1:c.5205delA
  • NM_001407898.1:c.5205delA
  • NM_001407899.1:c.5205delA
  • NM_001407900.1:c.5205delA
  • NM_001407902.1:c.5205delA
  • NM_001407904.1:c.5205delA
  • NM_001407906.1:c.5205delA
  • NM_001407907.1:c.5205delA
  • NM_001407908.1:c.5205delA
  • NM_001407909.1:c.5205delA
  • NM_001407910.1:c.5205delA
  • NM_001407915.1:c.5202delA
  • NM_001407916.1:c.5202delA
  • NM_001407917.1:c.5202delA
  • NM_001407918.1:c.5202delA
  • NM_001407919.1:c.5166delA
  • NM_001407920.1:c.5154delA
  • NM_001407921.1:c.5154delA
  • NM_001407922.1:c.5154delA
  • NM_001407923.1:c.5154delA
  • NM_001407924.1:c.5154delA
  • NM_001407925.1:c.5154delA
  • NM_001407926.1:c.5154delA
  • NM_001407927.1:c.5151delA
  • NM_001407928.1:c.5151delA
  • NM_001407929.1:c.5151delA
  • NM_001407930.1:c.5151delA
  • NM_001407931.1:c.5151delA
  • NM_001407932.1:c.5151delA
  • NM_001407933.1:c.5151delA
  • NM_001407934.1:c.5148delA
  • NM_001407935.1:c.5148delA
  • NM_001407936.1:c.5148delA
  • NM_001407937.1:c.5221delA
  • NM_001407938.1:c.5221delA
  • NM_001407939.1:c.5218delA
  • NM_001407940.1:c.5218delA
  • NM_001407941.1:c.5215delA
  • NM_001407942.1:c.5203delA
  • NM_001407943.1:c.5200delA
  • NM_001407944.1:c.5200delA
  • NM_001407945.1:c.5200delA
  • NM_001407946.1:c.5085delA
  • NM_001407947.1:c.5085delA
  • NM_001407948.1:c.5085delA
  • NM_001407949.1:c.5085delA
  • NM_001407950.1:c.5082delA
  • NM_001407951.1:c.5082delA
  • NM_001407952.1:c.5082delA
  • NM_001407953.1:c.5082delA
  • NM_001407954.1:c.5082delA
  • NM_001407955.1:c.5082delA
  • NM_001407956.1:c.5079delA
  • NM_001407957.1:c.5079delA
  • NM_001407958.1:c.5079delA
  • NM_001407959.1:c.5037delA
  • NM_001407960.1:c.5034delA
  • NM_001407962.1:c.5034delA
  • NM_001407963.1:c.5031delA
  • NM_001407964.1:c.4956delA
  • NM_001407965.1:c.4911delA
  • NM_001407966.1:c.4530delA
  • NM_001407967.1:c.4527delA
  • NM_001407968.1:c.2814delA
  • NM_001407969.1:c.2811delA
  • NM_001407970.1:c.2175delA
  • NM_001407971.1:c.2175delA
  • NM_001407972.1:c.2172delA
  • NM_001407973.1:c.2109delA
  • NM_001407974.1:c.2109delA
  • NM_001407975.1:c.2109delA
  • NM_001407976.1:c.2109delA
  • NM_001407977.1:c.2109delA
  • NM_001407978.1:c.2109delA
  • NM_001407979.1:c.2106delA
  • NM_001407980.1:c.2106delA
  • NM_001407981.1:c.2106delA
  • NM_001407982.1:c.2106delA
  • NM_001407983.1:c.2106delA
  • NM_001407984.1:c.2106delA
  • NM_001407985.1:c.2106delA
  • NM_001407986.1:c.2106delA
  • NM_001407990.1:c.2106delA
  • NM_001407991.1:c.2106delA
  • NM_001407992.1:c.2106delA
  • NM_001407993.1:c.2106delA
  • NM_001408392.1:c.2103delA
  • NM_001408396.1:c.2103delA
  • NM_001408397.1:c.2103delA
  • NM_001408398.1:c.2103delA
  • NM_001408399.1:c.2103delA
  • NM_001408400.1:c.2103delA
  • NM_001408401.1:c.2103delA
  • NM_001408402.1:c.2103delA
  • NM_001408403.1:c.2103delA
  • NM_001408404.1:c.2103delA
  • NM_001408406.1:c.2100delA
  • NM_001408407.1:c.2100delA
  • NM_001408408.1:c.2100delA
  • NM_001408409.1:c.2097delA
  • NM_001408410.1:c.2034delA
  • NM_001408411.1:c.2031delA
  • NM_001408412.1:c.2028delA
  • NM_001408413.1:c.2028delA
  • NM_001408414.1:c.2028delA
  • NM_001408415.1:c.2028delA
  • NM_001408416.1:c.2028delA
  • NM_001408418.1:c.1992delA
  • NM_001408419.1:c.1992delA
  • NM_001408420.1:c.1992delA
  • NM_001408421.1:c.1989delA
  • NM_001408422.1:c.1989delA
  • NM_001408423.1:c.1989delA
  • NM_001408424.1:c.1989delA
  • NM_001408425.1:c.1986delA
  • NM_001408426.1:c.1986delA
  • NM_001408427.1:c.1986delA
  • NM_001408428.1:c.1986delA
  • NM_001408429.1:c.1986delA
  • NM_001408430.1:c.1986delA
  • NM_001408431.1:c.1986delA
  • NM_001408432.1:c.1983delA
  • NM_001408433.1:c.1983delA
  • NM_001408434.1:c.1983delA
  • NM_001408435.1:c.1983delA
  • NM_001408436.1:c.1983delA
  • NM_001408437.1:c.1983delA
  • NM_001408438.1:c.1983delA
  • NM_001408439.1:c.1983delA
  • NM_001408440.1:c.1983delA
  • NM_001408441.1:c.1983delA
  • NM_001408442.1:c.1983delA
  • NM_001408443.1:c.1983delA
  • NM_001408444.1:c.1983delA
  • NM_001408445.1:c.1980delA
  • NM_001408446.1:c.1980delA
  • NM_001408447.1:c.1980delA
  • NM_001408448.1:c.1980delA
  • NM_001408450.1:c.1980delA
  • NM_001408451.1:c.1974delA
  • NM_001408452.1:c.1968delA
  • NM_001408453.1:c.1968delA
  • NM_001408454.1:c.1968delA
  • NM_001408455.1:c.1968delA
  • NM_001408456.1:c.1968delA
  • NM_001408457.1:c.1968delA
  • NM_001408458.1:c.1965delA
  • NM_001408459.1:c.1965delA
  • NM_001408460.1:c.1965delA
  • NM_001408461.1:c.1965delA
  • NM_001408462.1:c.1965delA
  • NM_001408463.1:c.1965delA
  • NM_001408464.1:c.1965delA
  • NM_001408465.1:c.1965delA
  • NM_001408466.1:c.1965delA
  • NM_001408467.1:c.1965delA
  • NM_001408468.1:c.1962delA
  • NM_001408469.1:c.1962delA
  • NM_001408470.1:c.1962delA
  • NM_001408472.1:c.2032delA
  • NM_001408473.1:c.2029delA
  • NM_001408474.1:c.1908delA
  • NM_001408475.1:c.1905delA
  • NM_001408476.1:c.1905delA
  • NM_001408478.1:c.1899delA
  • NM_001408479.1:c.1899delA
  • NM_001408480.1:c.1899delA
  • NM_001408481.1:c.1896delA
  • NM_001408482.1:c.1896delA
  • NM_001408483.1:c.1896delA
  • NM_001408484.1:c.1896delA
  • NM_001408485.1:c.1896delA
  • NM_001408489.1:c.1896delA
  • NM_001408490.1:c.1896delA
  • NM_001408491.1:c.1896delA
  • NM_001408492.1:c.1893delA
  • NM_001408493.1:c.1893delA
  • NM_001408494.1:c.1869delA
  • NM_001408495.1:c.1863delA
  • NM_001408496.1:c.1845delA
  • NM_001408497.1:c.1845delA
  • NM_001408498.1:c.1845delA
  • NM_001408499.1:c.1845delA
  • NM_001408500.1:c.1845delA
  • NM_001408501.1:c.1845delA
  • NM_001408502.1:c.1842delA
  • NM_001408503.1:c.1842delA
  • NM_001408504.1:c.1842delA
  • NM_001408505.1:c.1839delA
  • NM_001408506.1:c.1782delA
  • NM_001408507.1:c.1779delA
  • NM_001408508.1:c.1770delA
  • NM_001408509.1:c.1767delA
  • NM_001408510.1:c.1728delA
  • NM_001408511.1:c.1725delA
  • NM_001408512.1:c.1605delA
  • NM_001408513.1:c.1578delA
  • NM_001408514.1:c.1182delA
  • NM_007294.4:c.5419delMANE SELECT
  • NM_007297.4:c.5278del
  • NM_007298.4:c.2106delA
  • NM_007299.4:c.2033del
  • NM_007300.4:c.5482del
  • NM_007304.2:c.2106delA
  • NP_001394500.1:p.Ile1736Leufs
  • NP_001394510.1:p.Ile1829Leufs
  • NP_001394511.1:p.Ile1829Leufs
  • NP_001394512.1:p.Ile1828Leufs
  • NP_001394514.1:p.Ile1828Leufs
  • NP_001394516.1:p.Ile1828Leufs
  • NP_001394519.1:p.Ile1827Leufs
  • NP_001394520.1:p.Ile1827Leufs
  • NP_001394522.1:p.Ile1807Leufs
  • NP_001394523.1:p.Ile1807Leufs
  • NP_001394525.1:p.Ile1807Leufs
  • NP_001394526.1:p.Ile1807Leufs
  • NP_001394527.1:p.Ile1807Leufs
  • NP_001394531.1:p.Ile1807Leufs
  • NP_001394532.1:p.Ile1807Leufs
  • NP_001394534.1:p.Ile1807Leufs
  • NP_001394539.1:p.Ile1806Leufs
  • NP_001394540.1:p.Ile1806Leufs
  • NP_001394541.1:p.Ile1806Leufs
  • NP_001394542.1:p.Ile1806Leufs
  • NP_001394543.1:p.Ile1806Leufs
  • NP_001394544.1:p.Ile1806Leufs
  • NP_001394545.1:p.Ile1806Leufs
  • NP_001394546.1:p.Ile1806Leufs
  • NP_001394547.1:p.Ile1806Leufs
  • NP_001394548.1:p.Ile1806Leufs
  • NP_001394549.1:p.Ile1806Leufs
  • NP_001394550.1:p.Ile1806Leufs
  • NP_001394551.1:p.Ile1806Leufs
  • NP_001394552.1:p.Ile1806Leufs
  • NP_001394553.1:p.Ile1806Leufs
  • NP_001394554.1:p.Ile1806Leufs
  • NP_001394555.1:p.Ile1806Leufs
  • NP_001394556.1:p.Ile1805Leufs
  • NP_001394557.1:p.Ile1805Leufs
  • NP_001394558.1:p.Ile1805Leufs
  • NP_001394559.1:p.Ile1805Leufs
  • NP_001394560.1:p.Ile1805Leufs
  • NP_001394561.1:p.Ile1805Leufs
  • NP_001394562.1:p.Ile1805Leufs
  • NP_001394563.1:p.Ile1805Leufs
  • NP_001394564.1:p.Ile1805Leufs
  • NP_001394565.1:p.Ile1805Leufs
  • NP_001394566.1:p.Ile1805Leufs
  • NP_001394567.1:p.Ile1805Leufs
  • NP_001394568.1:p.Ile1805Leufs
  • NP_001394569.1:p.Ile1805Leufs
  • NP_001394570.1:p.Ile1805Leufs
  • NP_001394571.1:p.Ile1805Leufs
  • NP_001394573.1:p.Ile1804Leufs
  • NP_001394574.1:p.Ile1804Leufs
  • NP_001394575.1:p.Ile1803Leufs
  • NP_001394576.1:p.Ile1802Leufs
  • NP_001394577.1:p.Ile1788Leufs
  • NP_001394578.1:p.Ile1787Leufs
  • NP_001394581.1:p.Ile1781Leufs
  • NP_001394582.1:p.Ile1781Leufs
  • NP_001394583.1:p.Ile1781Leufs
  • NP_001394584.1:p.Ile1781Leufs
  • NP_001394585.1:p.Ile1780Leufs
  • NP_001394586.1:p.Ile1780Leufs
  • NP_001394587.1:p.Ile1780Leufs
  • NP_001394588.1:p.Ile1779Leufs
  • NP_001394589.1:p.Ile1779Leufs
  • NP_001394590.1:p.Ile1779Leufs
  • NP_001394591.1:p.Ile1779Leufs
  • NP_001394592.1:p.Ile1779Leufs
  • NP_001394593.1:p.Ile1766Leufs
  • NP_001394594.1:p.Ile1766Leufs
  • NP_001394595.1:p.Ile1766Leufs
  • NP_001394596.1:p.Ile1766Leufs
  • NP_001394597.1:p.Ile1766Leufs
  • NP_001394598.1:p.Ile1766Leufs
  • NP_001394599.1:p.Ile1765Leufs
  • NP_001394600.1:p.Ile1765Leufs
  • NP_001394601.1:p.Ile1765Leufs
  • NP_001394602.1:p.Ile1765Leufs
  • NP_001394603.1:p.Ile1765Leufs
  • NP_001394604.1:p.Ile1765Leufs
  • NP_001394605.1:p.Ile1765Leufs
  • NP_001394606.1:p.Ile1765Leufs
  • NP_001394607.1:p.Ile1765Leufs
  • NP_001394608.1:p.Ile1765Leufs
  • NP_001394609.1:p.Ile1765Leufs
  • NP_001394610.1:p.Ile1764Leufs
  • NP_001394611.1:p.Ile1764Leufs
  • NP_001394612.1:p.Ile1764Leufs
  • NP_001394613.1:p.Ile1764Leufs
  • NP_001394614.1:p.Ile1764Leufs
  • NP_001394615.1:p.Ile1764Leufs
  • NP_001394616.1:p.Ile1764Leufs
  • NP_001394617.1:p.Ile1764Leufs
  • NP_001394618.1:p.Ile1764Leufs
  • NP_001394619.1:p.Ile1763Leufs
  • NP_001394620.1:p.Ile1763Leufs
  • NP_001394621.1:p.Ile1760Leufs
  • NP_001394623.1:p.Ile1760Leufs
  • NP_001394624.1:p.Ile1760Leufs
  • NP_001394625.1:p.Ile1760Leufs
  • NP_001394626.1:p.Ile1760Leufs
  • NP_001394627.1:p.Ile1760Leufs
  • NP_001394653.1:p.Ile1760Leufs
  • NP_001394654.1:p.Ile1760Leufs
  • NP_001394655.1:p.Ile1760Leufs
  • NP_001394656.1:p.Ile1760Leufs
  • NP_001394657.1:p.Ile1760Leufs
  • NP_001394658.1:p.Ile1760Leufs
  • NP_001394659.1:p.Ile1760Leufs
  • NP_001394660.1:p.Ile1760Leufs
  • NP_001394661.1:p.Ile1759Leufs
  • NP_001394662.1:p.Ile1759Leufs
  • NP_001394663.1:p.Ile1759Leufs
  • NP_001394664.1:p.Ile1759Leufs
  • NP_001394665.1:p.Ile1759Leufs
  • NP_001394666.1:p.Ile1759Leufs
  • NP_001394667.1:p.Ile1759Leufs
  • NP_001394668.1:p.Ile1759Leufs
  • NP_001394669.1:p.Ile1759Leufs
  • NP_001394670.1:p.Ile1759Leufs
  • NP_001394671.1:p.Ile1759Leufs
  • NP_001394672.1:p.Ile1759Leufs
  • NP_001394673.1:p.Ile1759Leufs
  • NP_001394674.1:p.Ile1759Leufs
  • NP_001394675.1:p.Ile1759Leufs
  • NP_001394676.1:p.Ile1759Leufs
  • NP_001394677.1:p.Ile1759Leufs
  • NP_001394678.1:p.Ile1759Leufs
  • NP_001394679.1:p.Ile1759Leufs
  • NP_001394680.1:p.Ile1759Leufs
  • NP_001394681.1:p.Ile1759Leufs
  • NP_001394767.1:p.Ile1758Leufs
  • NP_001394768.1:p.Ile1758Leufs
  • NP_001394770.1:p.Ile1758Leufs
  • NP_001394771.1:p.Ile1758Leufs
  • NP_001394772.1:p.Ile1758Leufs
  • NP_001394773.1:p.Ile1758Leufs
  • NP_001394774.1:p.Ile1758Leufs
  • NP_001394775.1:p.Ile1758Leufs
  • NP_001394776.1:p.Ile1758Leufs
  • NP_001394777.1:p.Ile1758Leufs
  • NP_001394778.1:p.Ile1758Leufs
  • NP_001394779.1:p.Ile1758Leufs
  • NP_001394780.1:p.Ile1758Leufs
  • NP_001394781.1:p.Ile1758Leufs
  • NP_001394782.1:p.Ile1758Leufs
  • NP_001394783.1:p.Asn1782Ilefs
  • NP_001394787.1:p.Asn1781Ilefs
  • NP_001394788.1:p.Asn1781Ilefs
  • NP_001394789.1:p.Asn1781Ilefs
  • NP_001394790.1:p.Asn1780Ilefs
  • NP_001394791.1:p.Ile1740Leufs
  • NP_001394792.1:p.Ile1739Leufs
  • NP_001394803.1:p.Ile1738Leufs
  • NP_001394804.1:p.Ile1738Leufs
  • NP_001394808.1:p.Ile1737Leufs
  • NP_001394810.1:p.Ile1737Leufs
  • NP_001394811.1:p.Ile1737Leufs
  • NP_001394813.1:p.Ile1737Leufs
  • NP_001394814.1:p.Ile1737Leufs
  • NP_001394815.1:p.Ile1737Leufs
  • NP_001394816.1:p.Ile1737Leufs
  • NP_001394818.1:p.Ile1737Leufs
  • NP_001394823.1:p.Ile1736Leufs
  • NP_001394824.1:p.Ile1736Leufs
  • NP_001394825.1:p.Ile1736Leufs
  • NP_001394826.1:p.Ile1736Leufs
  • NP_001394827.1:p.Ile1736Leufs
  • NP_001394828.1:p.Ile1736Leufs
  • NP_001394829.1:p.Ile1736Leufs
  • NP_001394831.1:p.Ile1736Leufs
  • NP_001394833.1:p.Ile1736Leufs
  • NP_001394835.1:p.Ile1736Leufs
  • NP_001394836.1:p.Ile1736Leufs
  • NP_001394837.1:p.Ile1736Leufs
  • NP_001394838.1:p.Ile1736Leufs
  • NP_001394839.1:p.Ile1736Leufs
  • NP_001394844.1:p.Ile1735Leufs
  • NP_001394845.1:p.Ile1735Leufs
  • NP_001394846.1:p.Ile1735Leufs
  • NP_001394847.1:p.Ile1735Leufs
  • NP_001394848.1:p.Ile1723Leufs
  • NP_001394849.1:p.Ile1719Leufs
  • NP_001394850.1:p.Ile1719Leufs
  • NP_001394851.1:p.Ile1719Leufs
  • NP_001394852.1:p.Ile1719Leufs
  • NP_001394853.1:p.Ile1719Leufs
  • NP_001394854.1:p.Ile1719Leufs
  • NP_001394855.1:p.Ile1719Leufs
  • NP_001394856.1:p.Ile1718Leufs
  • NP_001394857.1:p.Ile1718Leufs
  • NP_001394858.1:p.Ile1718Leufs
  • NP_001394859.1:p.Ile1718Leufs
  • NP_001394860.1:p.Ile1718Leufs
  • NP_001394861.1:p.Ile1718Leufs
  • NP_001394862.1:p.Ile1718Leufs
  • NP_001394863.1:p.Ile1717Leufs
  • NP_001394864.1:p.Ile1717Leufs
  • NP_001394865.1:p.Ile1717Leufs
  • NP_001394866.1:p.Asn1741Ilefs
  • NP_001394867.1:p.Asn1741Ilefs
  • NP_001394868.1:p.Asn1740Ilefs
  • NP_001394869.1:p.Asn1740Ilefs
  • NP_001394870.1:p.Asn1739Ilefs
  • NP_001394871.1:p.Asn1735Ilefs
  • NP_001394872.1:p.Asn1734Ilefs
  • NP_001394873.1:p.Asn1734Ilefs
  • NP_001394874.1:p.Asn1734Ilefs
  • NP_001394875.1:p.Ile1696Leufs
  • NP_001394876.1:p.Ile1696Leufs
  • NP_001394877.1:p.Ile1696Leufs
  • NP_001394878.1:p.Ile1696Leufs
  • NP_001394879.1:p.Ile1695Leufs
  • NP_001394880.1:p.Ile1695Leufs
  • NP_001394881.1:p.Ile1695Leufs
  • NP_001394882.1:p.Ile1695Leufs
  • NP_001394883.1:p.Ile1695Leufs
  • NP_001394884.1:p.Ile1695Leufs
  • NP_001394885.1:p.Ile1694Leufs
  • NP_001394886.1:p.Ile1694Leufs
  • NP_001394887.1:p.Ile1694Leufs
  • NP_001394888.1:p.Ile1680Leufs
  • NP_001394889.1:p.Ile1679Leufs
  • NP_001394891.1:p.Ile1679Leufs
  • NP_001394892.1:p.Ile1678Leufs
  • NP_001394893.1:p.Ile1653Leufs
  • NP_001394894.1:p.Ile1638Leufs
  • NP_001394895.1:p.Ile1511Leufs
  • NP_001394896.1:p.Ile1510Leufs
  • NP_001394897.1:p.Ile939Leufs
  • NP_001394898.1:p.Ile938Leufs
  • NP_001394899.1:p.Ile726Leufs
  • NP_001394900.1:p.Ile726Leufs
  • NP_001394901.1:p.Ile725Leufs
  • NP_001394902.1:p.Ile704Leufs
  • NP_001394903.1:p.Ile704Leufs
  • NP_001394904.1:p.Ile704Leufs
  • NP_001394905.1:p.Ile704Leufs
  • NP_001394906.1:p.Ile704Leufs
  • NP_001394907.1:p.Ile704Leufs
  • NP_001394908.1:p.Ile703Leufs
  • NP_001394909.1:p.Ile703Leufs
  • NP_001394910.1:p.Ile703Leufs
  • NP_001394911.1:p.Ile703Leufs
  • NP_001394912.1:p.Ile703Leufs
  • NP_001394913.1:p.Ile703Leufs
  • NP_001394914.1:p.Ile703Leufs
  • NP_001394915.1:p.Ile703Leufs
  • NP_001394919.1:p.Ile703Leufs
  • NP_001394920.1:p.Ile703Leufs
  • NP_001394921.1:p.Ile703Leufs
  • NP_001394922.1:p.Ile703Leufs
  • NP_001395321.1:p.Ile702Leufs
  • NP_001395325.1:p.Ile702Leufs
  • NP_001395326.1:p.Ile702Leufs
  • NP_001395327.1:p.Ile702Leufs
  • NP_001395328.1:p.Ile702Leufs
  • NP_001395329.1:p.Ile702Leufs
  • NP_001395330.1:p.Ile702Leufs
  • NP_001395331.1:p.Ile702Leufs
  • NP_001395332.1:p.Ile702Leufs
  • NP_001395333.1:p.Ile702Leufs
  • NP_001395335.1:p.Ile701Leufs
  • NP_001395336.1:p.Ile701Leufs
  • NP_001395337.1:p.Ile701Leufs
  • NP_001395338.1:p.Ile700Leufs
  • NP_001395339.1:p.Ile679Leufs
  • NP_001395340.1:p.Ile678Leufs
  • NP_001395341.1:p.Ile677Leufs
  • NP_001395342.1:p.Ile677Leufs
  • NP_001395343.1:p.Ile677Leufs
  • NP_001395344.1:p.Ile677Leufs
  • NP_001395345.1:p.Ile677Leufs
  • NP_001395347.1:p.Ile665Leufs
  • NP_001395348.1:p.Ile665Leufs
  • NP_001395349.1:p.Ile665Leufs
  • NP_001395350.1:p.Ile664Leufs
  • NP_001395351.1:p.Ile664Leufs
  • NP_001395352.1:p.Ile664Leufs
  • NP_001395353.1:p.Ile664Leufs
  • NP_001395354.1:p.Ile663Leufs
  • NP_001395355.1:p.Ile663Leufs
  • NP_001395356.1:p.Ile663Leufs
  • NP_001395357.1:p.Ile663Leufs
  • NP_001395358.1:p.Ile663Leufs
  • NP_001395359.1:p.Ile663Leufs
  • NP_001395360.1:p.Ile663Leufs
  • NP_001395361.1:p.Ile662Leufs
  • NP_001395362.1:p.Ile662Leufs
  • NP_001395363.1:p.Ile662Leufs
  • NP_001395364.1:p.Ile662Leufs
  • NP_001395365.1:p.Ile662Leufs
  • NP_001395366.1:p.Ile662Leufs
  • NP_001395367.1:p.Ile662Leufs
  • NP_001395368.1:p.Ile662Leufs
  • NP_001395369.1:p.Ile662Leufs
  • NP_001395370.1:p.Ile662Leufs
  • NP_001395371.1:p.Ile662Leufs
  • NP_001395372.1:p.Ile662Leufs
  • NP_001395373.1:p.Ile662Leufs
  • NP_001395374.1:p.Ile661Leufs
  • NP_001395375.1:p.Ile661Leufs
  • NP_001395376.1:p.Ile661Leufs
  • NP_001395377.1:p.Ile661Leufs
  • NP_001395379.1:p.Ile661Leufs
  • NP_001395380.1:p.Ile659Leufs
  • NP_001395381.1:p.Ile657Leufs
  • NP_001395382.1:p.Ile657Leufs
  • NP_001395383.1:p.Ile657Leufs
  • NP_001395384.1:p.Ile657Leufs
  • NP_001395385.1:p.Ile657Leufs
  • NP_001395386.1:p.Ile657Leufs
  • NP_001395387.1:p.Ile656Leufs
  • NP_001395388.1:p.Ile656Leufs
  • NP_001395389.1:p.Ile656Leufs
  • NP_001395390.1:p.Ile656Leufs
  • NP_001395391.1:p.Ile656Leufs
  • NP_001395392.1:p.Ile656Leufs
  • NP_001395393.1:p.Ile656Leufs
  • NP_001395394.1:p.Ile656Leufs
  • NP_001395395.1:p.Ile656Leufs
  • NP_001395396.1:p.Ile656Leufs
  • NP_001395397.1:p.Ile655Leufs
  • NP_001395398.1:p.Ile655Leufs
  • NP_001395399.1:p.Ile655Leufs
  • NP_001395401.1:p.Asn678Ilefs
  • NP_001395402.1:p.Asn677Ilefs
  • NP_001395403.1:p.Ile637Leufs
  • NP_001395404.1:p.Ile636Leufs
  • NP_001395405.1:p.Ile636Leufs
  • NP_001395407.1:p.Ile634Leufs
  • NP_001395408.1:p.Ile634Leufs
  • NP_001395409.1:p.Ile634Leufs
  • NP_001395410.1:p.Ile633Leufs
  • NP_001395411.1:p.Ile633Leufs
  • NP_001395412.1:p.Ile633Leufs
  • NP_001395413.1:p.Ile633Leufs
  • NP_001395414.1:p.Ile633Leufs
  • NP_001395418.1:p.Ile633Leufs
  • NP_001395419.1:p.Ile633Leufs
  • NP_001395420.1:p.Ile633Leufs
  • NP_001395421.1:p.Ile632Leufs
  • NP_001395422.1:p.Ile632Leufs
  • NP_001395423.1:p.Ile624Leufs
  • NP_001395424.1:p.Ile622Leufs
  • NP_001395425.1:p.Ile616Leufs
  • NP_001395426.1:p.Ile616Leufs
  • NP_001395427.1:p.Ile616Leufs
  • NP_001395428.1:p.Ile616Leufs
  • NP_001395429.1:p.Ile616Leufs
  • NP_001395430.1:p.Ile616Leufs
  • NP_001395431.1:p.Ile615Leufs
  • NP_001395432.1:p.Ile615Leufs
  • NP_001395433.1:p.Ile615Leufs
  • NP_001395434.1:p.Ile614Leufs
  • NP_001395435.1:p.Ile595Leufs
  • NP_001395436.1:p.Ile594Leufs
  • NP_001395437.1:p.Ile591Leufs
  • NP_001395438.1:p.Ile590Leufs
  • NP_001395439.1:p.Ile577Leufs
  • NP_001395440.1:p.Ile576Leufs
  • NP_001395441.1:p.Ile536Leufs
  • NP_001395442.1:p.Ile527Leufs
  • NP_001395443.1:p.Ile395Leufs
  • NP_009225.1:p.Ile1807Leufs
  • NP_009225.1:p.Ile1807fs
  • NP_009228.2:p.Ile1760fs
  • NP_009229.2:p.Ile703Leufs
  • NP_009229.2:p.Ile703fs
  • NP_009230.2:p.Asn678fs
  • NP_009231.2:p.Ile1828fs
  • NP_009235.2:p.Ile703Leufs
  • LRG_292t1:c.5418del
  • LRG_292:g.170293del
  • LRG_292p1:p.Ile1807Leufs
  • NC_000017.10:g.41199708delT
  • NC_000017.10:g.41199709del
  • NM_007294.3:c.5418delA
  • NM_007294.3:c.5419delA
  • NM_007298.3:c.2107del
  • NR_027676.2:n.5596del
  • U14680.1:n.5537delA
Protein change:
I1760fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5537&base_change=del A; dbSNP: rs80357934
NCBI 1000 Genomes Browser:
rs80357934
Molecular consequence:
  • NM_001407571.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5484delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5484delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5481delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5481delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5481delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5478delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5478delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5418delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5415delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5412delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5409delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5409delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5406delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5361delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5358delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5340delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5340delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5340delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5340delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5337delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5337delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5337delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5334delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5295delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5292delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5289delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5286delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5286delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5277delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5274delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.5344delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.5341delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.5341delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.5341delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.5338delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5217delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5214delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5211delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5211delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5208delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5205delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5202delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.5166delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5154delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5151delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5148delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5148delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5148delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.5221delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.5221delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.5218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.5218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.5215delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.5203delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.5200delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.5200delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.5200delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5085delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5085delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5085delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5085delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5082delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5079delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5079delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5079delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.5037delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.5034delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.5034delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.5031delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4956delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4911delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4530delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4527delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2814delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2811delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2175delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2175delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2172delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2109delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2103delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2100delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2100delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2100delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2097delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.2034delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.2031delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.2028delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1992delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1992delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1992delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1989delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1989delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1989delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1989delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1986delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1983delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1980delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1974delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1968delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1965delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1962delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1962delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1962delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.2032delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.2029delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1908delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1905delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1905delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1899delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1899delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1899delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1896delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1893delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1893delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1869delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1863delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1845delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1842delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1842delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1842delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1839delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1782delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1779delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1770delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1767delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1728delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1725delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1605delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1578delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1182delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5419del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5278del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.2033del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5482del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2106delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5596del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001352267Color 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]

SCV002653997Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 14, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.

Díez O, Cortés J, Domènech M, Brunet J, Del Río E, Pericay C, Sanz J, Alonso C, Baiget M.

Int J Cancer. 1999 Nov 12;83(4):465-9.

PubMed [citation]
PMID:
10508480

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001352267.2

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

Description

This variant deletes 1 nucleotide in exon 22 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

From Ambry Genetics, SCV002653997.2

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

Description

The c.5419delA pathogenic mutation, located in coding exon 21 of the BRCA1 gene, results from a deletion of one nucleotide at position 5419, causing a translational frameshift within the functionally-important BRCT2 domain and a predicted alternate stop codon. This mutation (designated as 5537delA) was identified and shown to segregate with disease in a Spanish hereditary breast/ovarian cancer family (Díez O et al. Int. J. Cancer 1999 Nov;83(4):465-9). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 26, 2024