NM_007294.4(BRCA1):c.5419del (p.Ile1807fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000112649.13

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]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145507	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000300257	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000326309	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000577940	Genologica Medica See additional submitters Servicio Andaluz de Salud, Hospital Universitario Virgen de la Victoria	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	6	not provided	not provided	not provided	clinical testing, curation
Caucasian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Causasians	germline	yes	not provided	4	not provided	not provided	yes	clinical testing
Spanish	germline	yes	1	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145507.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	not provided
2	Spanish	1	not provided	not provided	clinical testing	not provided

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300257.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326309.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	6	not provided

From Genologica Medica, SCV000577940.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	not provided		not provided	not provided	4	not provided

Last Updated: Oct 26, 2024

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