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NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000496764.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs)]

NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs)
Other names:
5471insA
HGVS:
  • NC_000017.11:g.43049175dup
  • NG_005905.2:g.168809dup
  • NM_001407571.1:c.5139dup
  • NM_001407581.1:c.5418dup
  • NM_001407582.1:c.5418dup
  • NM_001407583.1:c.5415dup
  • NM_001407585.1:c.5415dup
  • NM_001407587.1:c.5415dup
  • NM_001407590.1:c.5412dup
  • NM_001407591.1:c.5412dup
  • NM_001407593.1:c.5352dup
  • NM_001407594.1:c.5352dup
  • NM_001407596.1:c.5352dup
  • NM_001407597.1:c.5352dup
  • NM_001407598.1:c.5352dup
  • NM_001407602.1:c.5352dup
  • NM_001407603.1:c.5352dup
  • NM_001407605.1:c.5352dup
  • NM_001407610.1:c.5349dup
  • NM_001407611.1:c.5349dup
  • NM_001407612.1:c.5349dup
  • NM_001407613.1:c.5349dup
  • NM_001407614.1:c.5349dup
  • NM_001407615.1:c.5349dup
  • NM_001407616.1:c.5349dup
  • NM_001407617.1:c.5349dup
  • NM_001407618.1:c.5349dup
  • NM_001407619.1:c.5349dup
  • NM_001407620.1:c.5349dup
  • NM_001407621.1:c.5349dup
  • NM_001407622.1:c.5349dup
  • NM_001407623.1:c.5349dup
  • NM_001407624.1:c.5349dup
  • NM_001407625.1:c.5349dup
  • NM_001407626.1:c.5349dup
  • NM_001407627.1:c.5346dup
  • NM_001407628.1:c.5346dup
  • NM_001407629.1:c.5346dup
  • NM_001407630.1:c.5346dup
  • NM_001407631.1:c.5346dup
  • NM_001407632.1:c.5346dup
  • NM_001407633.1:c.5346dup
  • NM_001407634.1:c.5346dup
  • NM_001407635.1:c.5346dup
  • NM_001407636.1:c.5346dup
  • NM_001407637.1:c.5346dup
  • NM_001407638.1:c.5346dup
  • NM_001407639.1:c.5346dup
  • NM_001407640.1:c.5346dup
  • NM_001407641.1:c.5346dup
  • NM_001407642.1:c.5346dup
  • NM_001407644.1:c.5343dup
  • NM_001407645.1:c.5343dup
  • NM_001407646.1:c.5340dup
  • NM_001407647.1:c.5337dup
  • NM_001407648.1:c.5295dup
  • NM_001407649.1:c.5292dup
  • NM_001407652.1:c.5274dup
  • NM_001407653.1:c.5274dup
  • NM_001407654.1:c.5274dup
  • NM_001407655.1:c.5274dup
  • NM_001407656.1:c.5271dup
  • NM_001407657.1:c.5271dup
  • NM_001407658.1:c.5271dup
  • NM_001407659.1:c.5268dup
  • NM_001407660.1:c.5268dup
  • NM_001407661.1:c.5268dup
  • NM_001407662.1:c.5268dup
  • NM_001407663.1:c.5268dup
  • NM_001407664.1:c.5229dup
  • NM_001407665.1:c.5229dup
  • NM_001407666.1:c.5229dup
  • NM_001407667.1:c.5229dup
  • NM_001407668.1:c.5229dup
  • NM_001407669.1:c.5229dup
  • NM_001407670.1:c.5226dup
  • NM_001407671.1:c.5226dup
  • NM_001407672.1:c.5226dup
  • NM_001407673.1:c.5226dup
  • NM_001407674.1:c.5226dup
  • NM_001407675.1:c.5226dup
  • NM_001407676.1:c.5226dup
  • NM_001407677.1:c.5226dup
  • NM_001407678.1:c.5226dup
  • NM_001407679.1:c.5226dup
  • NM_001407680.1:c.5226dup
  • NM_001407681.1:c.5223dup
  • NM_001407682.1:c.5223dup
  • NM_001407683.1:c.5223dup
  • NM_001407685.1:c.5223dup
  • NM_001407686.1:c.5223dup
  • NM_001407687.1:c.5223dup
  • NM_001407688.1:c.5223dup
  • NM_001407689.1:c.5223dup
  • NM_001407690.1:c.5220dup
  • NM_001407691.1:c.5220dup
  • NM_001407692.1:c.5211dup
  • NM_001407694.1:c.5211dup
  • NM_001407695.1:c.5211dup
  • NM_001407696.1:c.5211dup
  • NM_001407697.1:c.5211dup
  • NM_001407698.1:c.5211dup
  • NM_001407724.1:c.5211dup
  • NM_001407725.1:c.5211dup
  • NM_001407726.1:c.5211dup
  • NM_001407727.1:c.5211dup
  • NM_001407728.1:c.5211dup
  • NM_001407729.1:c.5211dup
  • NM_001407730.1:c.5211dup
  • NM_001407731.1:c.5211dup
  • NM_001407732.1:c.5208dup
  • NM_001407733.1:c.5208dup
  • NM_001407734.1:c.5208dup
  • NM_001407735.1:c.5208dup
  • NM_001407736.1:c.5208dup
  • NM_001407737.1:c.5208dup
  • NM_001407738.1:c.5208dup
  • NM_001407739.1:c.5208dup
  • NM_001407740.1:c.5208dup
  • NM_001407741.1:c.5208dup
  • NM_001407742.1:c.5208dup
  • NM_001407743.1:c.5208dup
  • NM_001407744.1:c.5208dup
  • NM_001407745.1:c.5208dup
  • NM_001407746.1:c.5208dup
  • NM_001407747.1:c.5208dup
  • NM_001407748.1:c.5208dup
  • NM_001407749.1:c.5208dup
  • NM_001407750.1:c.5208dup
  • NM_001407751.1:c.5208dup
  • NM_001407752.1:c.5208dup
  • NM_001407838.1:c.5205dup
  • NM_001407839.1:c.5205dup
  • NM_001407841.1:c.5205dup
  • NM_001407842.1:c.5205dup
  • NM_001407843.1:c.5205dup
  • NM_001407844.1:c.5205dup
  • NM_001407845.1:c.5205dup
  • NM_001407846.1:c.5205dup
  • NM_001407847.1:c.5205dup
  • NM_001407848.1:c.5205dup
  • NM_001407849.1:c.5205dup
  • NM_001407850.1:c.5205dup
  • NM_001407851.1:c.5205dup
  • NM_001407852.1:c.5205dup
  • NM_001407853.1:c.5205dup
  • NM_001407862.1:c.5151dup
  • NM_001407863.1:c.5148dup
  • NM_001407874.1:c.5145dup
  • NM_001407875.1:c.5145dup
  • NM_001407879.1:c.5142dup
  • NM_001407881.1:c.5142dup
  • NM_001407882.1:c.5142dup
  • NM_001407884.1:c.5142dup
  • NM_001407885.1:c.5142dup
  • NM_001407886.1:c.5142dup
  • NM_001407887.1:c.5142dup
  • NM_001407889.1:c.5142dup
  • NM_001407894.1:c.5139dup
  • NM_001407895.1:c.5139dup
  • NM_001407896.1:c.5139dup
  • NM_001407897.1:c.5139dup
  • NM_001407898.1:c.5139dup
  • NM_001407899.1:c.5139dup
  • NM_001407900.1:c.5139dup
  • NM_001407902.1:c.5139dup
  • NM_001407904.1:c.5139dup
  • NM_001407906.1:c.5139dup
  • NM_001407907.1:c.5139dup
  • NM_001407908.1:c.5139dup
  • NM_001407909.1:c.5139dup
  • NM_001407910.1:c.5139dup
  • NM_001407915.1:c.5136dup
  • NM_001407916.1:c.5136dup
  • NM_001407917.1:c.5136dup
  • NM_001407918.1:c.5136dup
  • NM_001407920.1:c.5088dup
  • NM_001407921.1:c.5088dup
  • NM_001407922.1:c.5088dup
  • NM_001407923.1:c.5088dup
  • NM_001407924.1:c.5088dup
  • NM_001407925.1:c.5088dup
  • NM_001407926.1:c.5088dup
  • NM_001407927.1:c.5085dup
  • NM_001407928.1:c.5085dup
  • NM_001407929.1:c.5085dup
  • NM_001407930.1:c.5085dup
  • NM_001407931.1:c.5085dup
  • NM_001407932.1:c.5085dup
  • NM_001407933.1:c.5085dup
  • NM_001407934.1:c.5082dup
  • NM_001407935.1:c.5082dup
  • NM_001407936.1:c.5082dup
  • NM_001407946.1:c.5019dup
  • NM_001407947.1:c.5019dup
  • NM_001407948.1:c.5019dup
  • NM_001407949.1:c.5019dup
  • NM_001407950.1:c.5016dup
  • NM_001407951.1:c.5016dup
  • NM_001407952.1:c.5016dup
  • NM_001407953.1:c.5016dup
  • NM_001407954.1:c.5016dup
  • NM_001407955.1:c.5016dup
  • NM_001407956.1:c.5013dup
  • NM_001407957.1:c.5013dup
  • NM_001407958.1:c.5013dup
  • NM_001407959.1:c.4971dup
  • NM_001407960.1:c.4968dup
  • NM_001407962.1:c.4968dup
  • NM_001407963.1:c.4965dup
  • NM_001407964.1:c.4890dup
  • NM_001407965.1:c.4845dup
  • NM_001407966.1:c.4464dup
  • NM_001407967.1:c.4461dup
  • NM_001407968.1:c.2748dup
  • NM_001407969.1:c.2745dup
  • NM_001407970.1:c.2109dup
  • NM_001407971.1:c.2109dup
  • NM_001407972.1:c.2106dup
  • NM_001407973.1:c.2043dup
  • NM_001407974.1:c.2043dup
  • NM_001407975.1:c.2043dup
  • NM_001407976.1:c.2043dup
  • NM_001407977.1:c.2043dup
  • NM_001407978.1:c.2043dup
  • NM_001407979.1:c.2040dup
  • NM_001407980.1:c.2040dup
  • NM_001407981.1:c.2040dup
  • NM_001407982.1:c.2040dup
  • NM_001407983.1:c.2040dup
  • NM_001407984.1:c.2040dup
  • NM_001407985.1:c.2040dup
  • NM_001407986.1:c.2040dup
  • NM_001407990.1:c.2040dup
  • NM_001407991.1:c.2040dup
  • NM_001407992.1:c.2040dup
  • NM_001407993.1:c.2040dup
  • NM_001408392.1:c.2037dup
  • NM_001408396.1:c.2037dup
  • NM_001408397.1:c.2037dup
  • NM_001408398.1:c.2037dup
  • NM_001408399.1:c.2037dup
  • NM_001408400.1:c.2037dup
  • NM_001408401.1:c.2037dup
  • NM_001408402.1:c.2037dup
  • NM_001408403.1:c.2037dup
  • NM_001408404.1:c.2037dup
  • NM_001408406.1:c.2034dup
  • NM_001408407.1:c.2034dup
  • NM_001408408.1:c.2034dup
  • NM_001408409.1:c.2031dup
  • NM_001408410.1:c.1968dup
  • NM_001408411.1:c.1965dup
  • NM_001408412.1:c.1962dup
  • NM_001408413.1:c.1962dup
  • NM_001408414.1:c.1962dup
  • NM_001408415.1:c.1962dup
  • NM_001408416.1:c.1962dup
  • NM_001408418.1:c.1926dup
  • NM_001408419.1:c.1926dup
  • NM_001408420.1:c.1926dup
  • NM_001408421.1:c.1923dup
  • NM_001408422.1:c.1923dup
  • NM_001408423.1:c.1923dup
  • NM_001408424.1:c.1923dup
  • NM_001408425.1:c.1920dup
  • NM_001408426.1:c.1920dup
  • NM_001408427.1:c.1920dup
  • NM_001408428.1:c.1920dup
  • NM_001408429.1:c.1920dup
  • NM_001408430.1:c.1920dup
  • NM_001408431.1:c.1920dup
  • NM_001408432.1:c.1917dup
  • NM_001408433.1:c.1917dup
  • NM_001408434.1:c.1917dup
  • NM_001408435.1:c.1917dup
  • NM_001408436.1:c.1917dup
  • NM_001408437.1:c.1917dup
  • NM_001408438.1:c.1917dup
  • NM_001408439.1:c.1917dup
  • NM_001408440.1:c.1917dup
  • NM_001408441.1:c.1917dup
  • NM_001408442.1:c.1917dup
  • NM_001408443.1:c.1917dup
  • NM_001408444.1:c.1917dup
  • NM_001408445.1:c.1914dup
  • NM_001408446.1:c.1914dup
  • NM_001408447.1:c.1914dup
  • NM_001408448.1:c.1914dup
  • NM_001408450.1:c.1914dup
  • NM_001408451.1:c.1908dup
  • NM_001408452.1:c.1902dup
  • NM_001408453.1:c.1902dup
  • NM_001408454.1:c.1902dup
  • NM_001408455.1:c.1902dup
  • NM_001408456.1:c.1902dup
  • NM_001408457.1:c.1902dup
  • NM_001408458.1:c.1899dup
  • NM_001408459.1:c.1899dup
  • NM_001408460.1:c.1899dup
  • NM_001408461.1:c.1899dup
  • NM_001408462.1:c.1899dup
  • NM_001408463.1:c.1899dup
  • NM_001408464.1:c.1899dup
  • NM_001408465.1:c.1899dup
  • NM_001408466.1:c.1899dup
  • NM_001408467.1:c.1899dup
  • NM_001408468.1:c.1896dup
  • NM_001408469.1:c.1896dup
  • NM_001408470.1:c.1896dup
  • NM_001408474.1:c.1842dup
  • NM_001408475.1:c.1839dup
  • NM_001408476.1:c.1839dup
  • NM_001408478.1:c.1833dup
  • NM_001408479.1:c.1833dup
  • NM_001408480.1:c.1833dup
  • NM_001408481.1:c.1830dup
  • NM_001408482.1:c.1830dup
  • NM_001408483.1:c.1830dup
  • NM_001408484.1:c.1830dup
  • NM_001408485.1:c.1830dup
  • NM_001408489.1:c.1830dup
  • NM_001408490.1:c.1830dup
  • NM_001408491.1:c.1830dup
  • NM_001408492.1:c.1827dup
  • NM_001408493.1:c.1827dup
  • NM_001408494.1:c.1803dup
  • NM_001408495.1:c.1797dup
  • NM_001408496.1:c.1779dup
  • NM_001408497.1:c.1779dup
  • NM_001408498.1:c.1779dup
  • NM_001408499.1:c.1779dup
  • NM_001408500.1:c.1779dup
  • NM_001408501.1:c.1779dup
  • NM_001408502.1:c.1776dup
  • NM_001408503.1:c.1776dup
  • NM_001408504.1:c.1776dup
  • NM_001408505.1:c.1773dup
  • NM_001408506.1:c.1716dup
  • NM_001408507.1:c.1713dup
  • NM_001408508.1:c.1704dup
  • NM_001408509.1:c.1701dup
  • NM_001408510.1:c.1662dup
  • NM_001408511.1:c.1659dup
  • NM_001408512.1:c.1539dup
  • NM_001408513.1:c.1512dup
  • NM_001408514.1:c.1116dup
  • NM_007294.4:c.5352dupMANE SELECT
  • NM_007297.4:c.5211dup
  • NM_007298.4:c.2040dup
  • NM_007299.4:c.2021-1472dup
  • NM_007300.4:c.5415dup
  • NM_007304.2:c.2040dup
  • NP_001394500.1:p.Gln1714Thrfs
  • NP_001394510.1:p.Gln1807Thrfs
  • NP_001394511.1:p.Gln1807Thrfs
  • NP_001394512.1:p.Gln1806Thrfs
  • NP_001394514.1:p.Gln1806Thrfs
  • NP_001394516.1:p.Gln1806Thrfs
  • NP_001394519.1:p.Gln1805Thrfs
  • NP_001394520.1:p.Gln1805Thrfs
  • NP_001394522.1:p.Gln1785Thrfs
  • NP_001394523.1:p.Gln1785Thrfs
  • NP_001394525.1:p.Gln1785Thrfs
  • NP_001394526.1:p.Gln1785Thrfs
  • NP_001394527.1:p.Gln1785Thrfs
  • NP_001394531.1:p.Gln1785Thrfs
  • NP_001394532.1:p.Gln1785Thrfs
  • NP_001394534.1:p.Gln1785Thrfs
  • NP_001394539.1:p.Gln1784Thrfs
  • NP_001394540.1:p.Gln1784Thrfs
  • NP_001394541.1:p.Gln1784Thrfs
  • NP_001394542.1:p.Gln1784Thrfs
  • NP_001394543.1:p.Gln1784Thrfs
  • NP_001394544.1:p.Gln1784Thrfs
  • NP_001394545.1:p.Gln1784Thrfs
  • NP_001394546.1:p.Gln1784Thrfs
  • NP_001394547.1:p.Gln1784Thrfs
  • NP_001394548.1:p.Gln1784Thrfs
  • NP_001394549.1:p.Gln1784Thrfs
  • NP_001394550.1:p.Gln1784Thrfs
  • NP_001394551.1:p.Gln1784Thrfs
  • NP_001394552.1:p.Gln1784Thrfs
  • NP_001394553.1:p.Gln1784Thrfs
  • NP_001394554.1:p.Gln1784Thrfs
  • NP_001394555.1:p.Gln1784Thrfs
  • NP_001394556.1:p.Gln1783Thrfs
  • NP_001394557.1:p.Gln1783Thrfs
  • NP_001394558.1:p.Gln1783Thrfs
  • NP_001394559.1:p.Gln1783Thrfs
  • NP_001394560.1:p.Gln1783Thrfs
  • NP_001394561.1:p.Gln1783Thrfs
  • NP_001394562.1:p.Gln1783Thrfs
  • NP_001394563.1:p.Gln1783Thrfs
  • NP_001394564.1:p.Gln1783Thrfs
  • NP_001394565.1:p.Gln1783Thrfs
  • NP_001394566.1:p.Gln1783Thrfs
  • NP_001394567.1:p.Gln1783Thrfs
  • NP_001394568.1:p.Gln1783Thrfs
  • NP_001394569.1:p.Gln1783Thrfs
  • NP_001394570.1:p.Gln1783Thrfs
  • NP_001394571.1:p.Gln1783Thrfs
  • NP_001394573.1:p.Gln1782Thrfs
  • NP_001394574.1:p.Gln1782Thrfs
  • NP_001394575.1:p.Gln1781Thrfs
  • NP_001394576.1:p.Gln1780Thrfs
  • NP_001394577.1:p.Gln1766Thrfs
  • NP_001394578.1:p.Gln1765Thrfs
  • NP_001394581.1:p.Gln1759Thrfs
  • NP_001394582.1:p.Gln1759Thrfs
  • NP_001394583.1:p.Gln1759Thrfs
  • NP_001394584.1:p.Gln1759Thrfs
  • NP_001394585.1:p.Gln1758Thrfs
  • NP_001394586.1:p.Gln1758Thrfs
  • NP_001394587.1:p.Gln1758Thrfs
  • NP_001394588.1:p.Gln1757Thrfs
  • NP_001394589.1:p.Gln1757Thrfs
  • NP_001394590.1:p.Gln1757Thrfs
  • NP_001394591.1:p.Gln1757Thrfs
  • NP_001394592.1:p.Gln1757Thrfs
  • NP_001394593.1:p.Gln1744Thrfs
  • NP_001394594.1:p.Gln1744Thrfs
  • NP_001394595.1:p.Gln1744Thrfs
  • NP_001394596.1:p.Gln1744Thrfs
  • NP_001394597.1:p.Gln1744Thrfs
  • NP_001394598.1:p.Gln1744Thrfs
  • NP_001394599.1:p.Gln1743Thrfs
  • NP_001394600.1:p.Gln1743Thrfs
  • NP_001394601.1:p.Gln1743Thrfs
  • NP_001394602.1:p.Gln1743Thrfs
  • NP_001394603.1:p.Gln1743Thrfs
  • NP_001394604.1:p.Gln1743Thrfs
  • NP_001394605.1:p.Gln1743Thrfs
  • NP_001394606.1:p.Gln1743Thrfs
  • NP_001394607.1:p.Gln1743Thrfs
  • NP_001394608.1:p.Gln1743Thrfs
  • NP_001394609.1:p.Gln1743Thrfs
  • NP_001394610.1:p.Gln1742Thrfs
  • NP_001394611.1:p.Gln1742Thrfs
  • NP_001394612.1:p.Gln1742Thrfs
  • NP_001394614.1:p.Gln1742Thrfs
  • NP_001394615.1:p.Gln1742Thrfs
  • NP_001394616.1:p.Gln1742Thrfs
  • NP_001394617.1:p.Gln1742Thrfs
  • NP_001394618.1:p.Gln1742Thrfs
  • NP_001394619.1:p.Gln1741Thrfs
  • NP_001394620.1:p.Gln1741Thrfs
  • NP_001394621.1:p.Gln1738Thrfs
  • NP_001394623.1:p.Gln1738Thrfs
  • NP_001394624.1:p.Gln1738Thrfs
  • NP_001394625.1:p.Gln1738Thrfs
  • NP_001394626.1:p.Gln1738Thrfs
  • NP_001394627.1:p.Gln1738Thrfs
  • NP_001394653.1:p.Gln1738Thrfs
  • NP_001394654.1:p.Gln1738Thrfs
  • NP_001394655.1:p.Gln1738Thrfs
  • NP_001394656.1:p.Gln1738Thrfs
  • NP_001394657.1:p.Gln1738Thrfs
  • NP_001394658.1:p.Gln1738Thrfs
  • NP_001394659.1:p.Gln1738Thrfs
  • NP_001394660.1:p.Gln1738Thrfs
  • NP_001394661.1:p.Gln1737Thrfs
  • NP_001394662.1:p.Gln1737Thrfs
  • NP_001394663.1:p.Gln1737Thrfs
  • NP_001394664.1:p.Gln1737Thrfs
  • NP_001394665.1:p.Gln1737Thrfs
  • NP_001394666.1:p.Gln1737Thrfs
  • NP_001394667.1:p.Gln1737Thrfs
  • NP_001394668.1:p.Gln1737Thrfs
  • NP_001394669.1:p.Gln1737Thrfs
  • NP_001394670.1:p.Gln1737Thrfs
  • NP_001394671.1:p.Gln1737Thrfs
  • NP_001394672.1:p.Gln1737Thrfs
  • NP_001394673.1:p.Gln1737Thrfs
  • NP_001394674.1:p.Gln1737Thrfs
  • NP_001394675.1:p.Gln1737Thrfs
  • NP_001394676.1:p.Gln1737Thrfs
  • NP_001394677.1:p.Gln1737Thrfs
  • NP_001394678.1:p.Gln1737Thrfs
  • NP_001394679.1:p.Gln1737Thrfs
  • NP_001394680.1:p.Gln1737Thrfs
  • NP_001394681.1:p.Gln1737Thrfs
  • NP_001394767.1:p.Gln1736Thrfs
  • NP_001394768.1:p.Gln1736Thrfs
  • NP_001394770.1:p.Gln1736Thrfs
  • NP_001394771.1:p.Gln1736Thrfs
  • NP_001394772.1:p.Gln1736Thrfs
  • NP_001394773.1:p.Gln1736Thrfs
  • NP_001394774.1:p.Gln1736Thrfs
  • NP_001394775.1:p.Gln1736Thrfs
  • NP_001394776.1:p.Gln1736Thrfs
  • NP_001394777.1:p.Gln1736Thrfs
  • NP_001394778.1:p.Gln1736Thrfs
  • NP_001394779.1:p.Gln1736Thrfs
  • NP_001394780.1:p.Gln1736Thrfs
  • NP_001394781.1:p.Gln1736Thrfs
  • NP_001394782.1:p.Gln1736Thrfs
  • NP_001394791.1:p.Gln1718Thrfs
  • NP_001394792.1:p.Gln1717Thrfs
  • NP_001394803.1:p.Gln1716Thrfs
  • NP_001394804.1:p.Gln1716Thrfs
  • NP_001394808.1:p.Gln1715Thrfs
  • NP_001394810.1:p.Gln1715Thrfs
  • NP_001394811.1:p.Gln1715Thrfs
  • NP_001394813.1:p.Gln1715Thrfs
  • NP_001394814.1:p.Gln1715Thrfs
  • NP_001394815.1:p.Gln1715Thrfs
  • NP_001394816.1:p.Gln1715Thrfs
  • NP_001394818.1:p.Gln1715Thrfs
  • NP_001394823.1:p.Gln1714Thrfs
  • NP_001394824.1:p.Gln1714Thrfs
  • NP_001394825.1:p.Gln1714Thrfs
  • NP_001394826.1:p.Gln1714Thrfs
  • NP_001394827.1:p.Gln1714Thrfs
  • NP_001394828.1:p.Gln1714Thrfs
  • NP_001394829.1:p.Gln1714Thrfs
  • NP_001394831.1:p.Gln1714Thrfs
  • NP_001394833.1:p.Gln1714Thrfs
  • NP_001394835.1:p.Gln1714Thrfs
  • NP_001394836.1:p.Gln1714Thrfs
  • NP_001394837.1:p.Gln1714Thrfs
  • NP_001394838.1:p.Gln1714Thrfs
  • NP_001394839.1:p.Gln1714Thrfs
  • NP_001394844.1:p.Gln1713Thrfs
  • NP_001394845.1:p.Gln1713Thrfs
  • NP_001394846.1:p.Gln1713Thrfs
  • NP_001394847.1:p.Gln1713Thrfs
  • NP_001394849.1:p.Gln1697Thrfs
  • NP_001394850.1:p.Gln1697Thrfs
  • NP_001394851.1:p.Gln1697Thrfs
  • NP_001394852.1:p.Gln1697Thrfs
  • NP_001394853.1:p.Gln1697Thrfs
  • NP_001394854.1:p.Gln1697Thrfs
  • NP_001394855.1:p.Gln1697Thrfs
  • NP_001394856.1:p.Gln1696Thrfs
  • NP_001394857.1:p.Gln1696Thrfs
  • NP_001394858.1:p.Gln1696Thrfs
  • NP_001394859.1:p.Gln1696Thrfs
  • NP_001394860.1:p.Gln1696Thrfs
  • NP_001394861.1:p.Gln1696Thrfs
  • NP_001394862.1:p.Gln1696Thrfs
  • NP_001394863.1:p.Gln1695Thrfs
  • NP_001394864.1:p.Gln1695Thrfs
  • NP_001394865.1:p.Gln1695Thrfs
  • NP_001394875.1:p.Gln1674Thrfs
  • NP_001394876.1:p.Gln1674Thrfs
  • NP_001394877.1:p.Gln1674Thrfs
  • NP_001394878.1:p.Gln1674Thrfs
  • NP_001394879.1:p.Gln1673Thrfs
  • NP_001394880.1:p.Gln1673Thrfs
  • NP_001394881.1:p.Gln1673Thrfs
  • NP_001394882.1:p.Gln1673Thrfs
  • NP_001394883.1:p.Gln1673Thrfs
  • NP_001394884.1:p.Gln1673Thrfs
  • NP_001394885.1:p.Gln1672Thrfs
  • NP_001394886.1:p.Gln1672Thrfs
  • NP_001394887.1:p.Gln1672Thrfs
  • NP_001394888.1:p.Gln1658Thrfs
  • NP_001394889.1:p.Gln1657Thrfs
  • NP_001394891.1:p.Gln1657Thrfs
  • NP_001394892.1:p.Gln1656Thrfs
  • NP_001394893.1:p.Gln1631Thrfs
  • NP_001394894.1:p.Gln1616Thrfs
  • NP_001394895.1:p.Gln1489Thrfs
  • NP_001394896.1:p.Gln1488Thrfs
  • NP_001394897.1:p.Gln917Thrfs
  • NP_001394898.1:p.Gln916Thrfs
  • NP_001394899.1:p.Gln704Thrfs
  • NP_001394900.1:p.Gln704Thrfs
  • NP_001394901.1:p.Gln703Thrfs
  • NP_001394902.1:p.Gln682Thrfs
  • NP_001394903.1:p.Gln682Thrfs
  • NP_001394904.1:p.Gln682Thrfs
  • NP_001394905.1:p.Gln682Thrfs
  • NP_001394906.1:p.Gln682Thrfs
  • NP_001394907.1:p.Gln682Thrfs
  • NP_001394908.1:p.Gln681Thrfs
  • NP_001394909.1:p.Gln681Thrfs
  • NP_001394910.1:p.Gln681Thrfs
  • NP_001394911.1:p.Gln681Thrfs
  • NP_001394912.1:p.Gln681Thrfs
  • NP_001394913.1:p.Gln681Thrfs
  • NP_001394914.1:p.Gln681Thrfs
  • NP_001394915.1:p.Gln681Thrfs
  • NP_001394919.1:p.Gln681Thrfs
  • NP_001394920.1:p.Gln681Thrfs
  • NP_001394921.1:p.Gln681Thrfs
  • NP_001394922.1:p.Gln681Thrfs
  • NP_001395321.1:p.Gln680Thrfs
  • NP_001395325.1:p.Gln680Thrfs
  • NP_001395326.1:p.Gln680Thrfs
  • NP_001395327.1:p.Gln680Thrfs
  • NP_001395328.1:p.Gln680Thrfs
  • NP_001395329.1:p.Gln680Thrfs
  • NP_001395330.1:p.Gln680Thrfs
  • NP_001395331.1:p.Gln680Thrfs
  • NP_001395332.1:p.Gln680Thrfs
  • NP_001395333.1:p.Gln680Thrfs
  • NP_001395335.1:p.Gln679Thrfs
  • NP_001395336.1:p.Gln679Thrfs
  • NP_001395337.1:p.Gln679Thrfs
  • NP_001395338.1:p.Gln678Thrfs
  • NP_001395339.1:p.Gln657Thrfs
  • NP_001395340.1:p.Gln656Thrfs
  • NP_001395341.1:p.Gln655Thrfs
  • NP_001395342.1:p.Gln655Thrfs
  • NP_001395343.1:p.Gln655Thrfs
  • NP_001395344.1:p.Gln655Thrfs
  • NP_001395345.1:p.Gln655Thrfs
  • NP_001395347.1:p.Gln643Thrfs
  • NP_001395348.1:p.Gln643Thrfs
  • NP_001395349.1:p.Gln643Thrfs
  • NP_001395350.1:p.Gln642Thrfs
  • NP_001395351.1:p.Gln642Thrfs
  • NP_001395352.1:p.Gln642Thrfs
  • NP_001395353.1:p.Gln642Thrfs
  • NP_001395354.1:p.Gln641Thrfs
  • NP_001395355.1:p.Gln641Thrfs
  • NP_001395356.1:p.Gln641Thrfs
  • NP_001395357.1:p.Gln641Thrfs
  • NP_001395358.1:p.Gln641Thrfs
  • NP_001395359.1:p.Gln641Thrfs
  • NP_001395360.1:p.Gln641Thrfs
  • NP_001395361.1:p.Gln640Thrfs
  • NP_001395362.1:p.Gln640Thrfs
  • NP_001395363.1:p.Gln640Thrfs
  • NP_001395364.1:p.Gln640Thrfs
  • NP_001395365.1:p.Gln640Thrfs
  • NP_001395366.1:p.Gln640Thrfs
  • NP_001395367.1:p.Gln640Thrfs
  • NP_001395368.1:p.Gln640Thrfs
  • NP_001395369.1:p.Gln640Thrfs
  • NP_001395370.1:p.Gln640Thrfs
  • NP_001395371.1:p.Gln640Thrfs
  • NP_001395372.1:p.Gln640Thrfs
  • NP_001395373.1:p.Gln640Thrfs
  • NP_001395374.1:p.Gln639Thrfs
  • NP_001395375.1:p.Gln639Thrfs
  • NP_001395376.1:p.Gln639Thrfs
  • NP_001395377.1:p.Gln639Thrfs
  • NP_001395379.1:p.Gln639Thrfs
  • NP_001395380.1:p.Gln637Thrfs
  • NP_001395381.1:p.Gln635Thrfs
  • NP_001395382.1:p.Gln635Thrfs
  • NP_001395383.1:p.Gln635Thrfs
  • NP_001395384.1:p.Gln635Thrfs
  • NP_001395385.1:p.Gln635Thrfs
  • NP_001395386.1:p.Gln635Thrfs
  • NP_001395387.1:p.Gln634Thrfs
  • NP_001395388.1:p.Gln634Thrfs
  • NP_001395389.1:p.Gln634Thrfs
  • NP_001395390.1:p.Gln634Thrfs
  • NP_001395391.1:p.Gln634Thrfs
  • NP_001395392.1:p.Gln634Thrfs
  • NP_001395393.1:p.Gln634Thrfs
  • NP_001395394.1:p.Gln634Thrfs
  • NP_001395395.1:p.Gln634Thrfs
  • NP_001395396.1:p.Gln634Thrfs
  • NP_001395397.1:p.Gln633Thrfs
  • NP_001395398.1:p.Gln633Thrfs
  • NP_001395399.1:p.Gln633Thrfs
  • NP_001395403.1:p.Gln615Thrfs
  • NP_001395404.1:p.Gln614Thrfs
  • NP_001395405.1:p.Gln614Thrfs
  • NP_001395407.1:p.Gln612Thrfs
  • NP_001395408.1:p.Gln612Thrfs
  • NP_001395409.1:p.Gln612Thrfs
  • NP_001395410.1:p.Gln611Thrfs
  • NP_001395411.1:p.Gln611Thrfs
  • NP_001395412.1:p.Gln611Thrfs
  • NP_001395413.1:p.Gln611Thrfs
  • NP_001395414.1:p.Gln611Thrfs
  • NP_001395418.1:p.Gln611Thrfs
  • NP_001395419.1:p.Gln611Thrfs
  • NP_001395420.1:p.Gln611Thrfs
  • NP_001395421.1:p.Gln610Thrfs
  • NP_001395422.1:p.Gln610Thrfs
  • NP_001395423.1:p.Gln602Thrfs
  • NP_001395424.1:p.Gln600Thrfs
  • NP_001395425.1:p.Gln594Thrfs
  • NP_001395426.1:p.Gln594Thrfs
  • NP_001395427.1:p.Gln594Thrfs
  • NP_001395428.1:p.Gln594Thrfs
  • NP_001395429.1:p.Gln594Thrfs
  • NP_001395430.1:p.Gln594Thrfs
  • NP_001395431.1:p.Gln593Thrfs
  • NP_001395432.1:p.Gln593Thrfs
  • NP_001395433.1:p.Gln593Thrfs
  • NP_001395434.1:p.Gln592Thrfs
  • NP_001395435.1:p.Gln573Thrfs
  • NP_001395436.1:p.Gln572Thrfs
  • NP_001395437.1:p.Gln569Thrfs
  • NP_001395438.1:p.Gln568Thrfs
  • NP_001395439.1:p.Gln555Thrfs
  • NP_001395440.1:p.Gln554Thrfs
  • NP_001395441.1:p.Gln514Thrfs
  • NP_001395442.1:p.Gln505Thrfs
  • NP_001395443.1:p.Gln373Thrfs
  • NP_009225.1:p.Gln1785fs
  • NP_009228.2:p.Gln1738fs
  • NP_009229.2:p.Gln681Thrfs
  • NP_009229.2:p.Gln681fs
  • NP_009231.2:p.Gln1806fs
  • NP_009235.2:p.Gln681Thrfs
  • LRG_292:g.168809dup
  • NC_000017.10:g.41201192dup
  • NM_007294.3:c.5352dupA
  • NM_007298.3:c.2040dup
  • NR_027676.2:n.5529dup
  • U14680.1:n.5471_5472insA
Protein change:
Q1738fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5471&base_change=ins A; dbSNP: rs80357744
NCBI 1000 Genomes Browser:
rs80357744
Molecular consequence:
  • NM_001407571.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5418dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5418dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5415dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5415dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5415dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5412dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5412dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5349dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5346dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5343dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5343dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5340dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5337dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5295dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5292dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5274dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5274dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5274dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5274dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5271dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5271dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5271dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5268dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5268dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5268dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5268dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5268dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5229dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5229dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5229dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5229dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5229dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5229dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5223dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5223dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5223dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5223dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5223dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5223dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5223dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5223dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5205dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5151dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5148dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5145dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5145dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5142dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5142dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5142dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5142dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5142dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5142dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5142dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5142dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5139dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5136dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5136dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5136dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5136dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5088dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5088dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5088dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5088dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5088dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5088dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5088dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5085dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5085dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5085dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5085dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5085dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5085dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5085dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5082dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5082dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5082dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5019dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5019dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5019dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5019dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5016dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5016dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5016dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5016dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5016dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5016dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5013dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5013dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5013dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.4971dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.4968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.4968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.4965dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4890dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4845dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4464dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4461dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2748dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2745dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2109dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2109dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2106dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2034dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2034dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2034dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2031dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.1968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.1965dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.1962dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.1962dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.1962dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.1962dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.1962dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1917dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1914dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1914dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1914dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1914dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1914dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1902dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1902dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1902dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1902dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1902dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1902dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1896dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1896dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1896dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1833dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1833dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1833dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1830dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1830dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1830dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1830dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1830dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1830dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1830dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1830dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1827dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1827dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1803dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1797dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1779dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1779dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1779dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1779dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1779dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1779dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1776dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1776dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1776dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1773dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1713dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1704dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1701dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1662dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1659dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1539dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1512dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1116dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5352dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5415dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.2021-1472dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.5529dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000587502Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014) 		germlineresearch

SCV002157235Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 16, 2023) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

Millot GA, Berger A, Lejour V, Boulé JB, Bobo C, Cullin C, Lopes J, Stoppa-Lyonnet D, Nicolas A.

Hum Mutat. 2011 Dec;32(12):1470-80. doi: 10.1002/humu.21608. Epub 2011 Oct 20.

PubMed [citation]
PMID:
21922593

Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

Hayes F, Cayanan C, BarillĂ  D, Monteiro AN.

Cancer Res. 2000 May 1;60(9):2411-8.

PubMed [citation]
PMID:
10811118
PMCID:
PMC4893312
See all PubMed Citations (10)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002157235.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

A different truncation (p.Tyr1853*) that lies downstream of this variant has been determined to be pathogenic (PMID: 21922593, 10811118, 11739404, 12400015, 7894493, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant disrupts the C-terminal end of the BRCA1 protein partially including the BRCT domain (residues 1646-1859), which is important for DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While functional studies have not been performed to directly test the effect on BRCA1 protein function, this suggests that disruption of the C-terminal portion of the protein is functionally important. ClinVar contains an entry for this variant (Variation ID: 125832). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1785Thrfs*45) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 79 amino acid(s) of the BRCA1 protein. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Apr 28, 2025