NM_007294.4(BRCA1):c.5479A>G (p.Met1827Val) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Apr 12, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV001072218.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.5479A>G (p.Met1827Val)]

NM_007294.4(BRCA1):c.5479A>G (p.Met1827Val)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.5479A>G (p.Met1827Val)

HGVS:

NC_000017.11:g.43045791T>C
NG_005905.2:g.172193A>G
NM_001407571.1:c.5266A>G
NM_001407581.1:c.5545A>G
NM_001407582.1:c.5545A>G
NM_001407583.1:c.5542A>G
NM_001407585.1:c.5542A>G
NM_001407587.1:c.5542A>G
NM_001407590.1:c.5539A>G
NM_001407591.1:c.5539A>G
NM_001407593.1:c.5479A>G
NM_001407594.1:c.5479A>G
NM_001407596.1:c.5479A>G
NM_001407597.1:c.5479A>G
NM_001407598.1:c.5479A>G
NM_001407602.1:c.5479A>G
NM_001407603.1:c.5479A>G
NM_001407605.1:c.5479A>G
NM_001407610.1:c.5476A>G
NM_001407611.1:c.5476A>G
NM_001407612.1:c.5476A>G
NM_001407613.1:c.5476A>G
NM_001407614.1:c.5476A>G
NM_001407615.1:c.5476A>G
NM_001407616.1:c.5476A>G
NM_001407617.1:c.5476A>G
NM_001407618.1:c.5476A>G
NM_001407619.1:c.5476A>G
NM_001407620.1:c.5476A>G
NM_001407621.1:c.5476A>G
NM_001407622.1:c.5476A>G
NM_001407623.1:c.5476A>G
NM_001407624.1:c.5476A>G
NM_001407625.1:c.5476A>G
NM_001407626.1:c.5476A>G
NM_001407627.1:c.5473A>G
NM_001407628.1:c.5473A>G
NM_001407629.1:c.5473A>G
NM_001407630.1:c.5473A>G
NM_001407631.1:c.5473A>G
NM_001407632.1:c.5473A>G
NM_001407633.1:c.5473A>G
NM_001407634.1:c.5473A>G
NM_001407635.1:c.5473A>G
NM_001407636.1:c.5473A>G
NM_001407637.1:c.5473A>G
NM_001407638.1:c.5473A>G
NM_001407639.1:c.5473A>G
NM_001407640.1:c.5473A>G
NM_001407641.1:c.5473A>G
NM_001407642.1:c.5473A>G
NM_001407644.1:c.5470A>G
NM_001407645.1:c.5470A>G
NM_001407646.1:c.5467A>G
NM_001407647.1:c.5464A>G
NM_001407648.1:c.5422A>G
NM_001407649.1:c.5419A>G
NM_001407652.1:c.5401A>G
NM_001407653.1:c.5401A>G
NM_001407654.1:c.5401A>G
NM_001407655.1:c.5401A>G
NM_001407656.1:c.5398A>G
NM_001407657.1:c.5398A>G
NM_001407658.1:c.5398A>G
NM_001407659.1:c.5395A>G
NM_001407660.1:c.5395A>G
NM_001407661.1:c.5395A>G
NM_001407662.1:c.5395A>G
NM_001407663.1:c.5395A>G
NM_001407664.1:c.5356A>G
NM_001407665.1:c.5356A>G
NM_001407666.1:c.5356A>G
NM_001407667.1:c.5356A>G
NM_001407668.1:c.5356A>G
NM_001407669.1:c.5356A>G
NM_001407670.1:c.5353A>G
NM_001407671.1:c.5353A>G
NM_001407672.1:c.5353A>G
NM_001407673.1:c.5353A>G
NM_001407674.1:c.5353A>G
NM_001407675.1:c.5353A>G
NM_001407676.1:c.5353A>G
NM_001407677.1:c.5353A>G
NM_001407678.1:c.5353A>G
NM_001407679.1:c.5353A>G
NM_001407680.1:c.5353A>G
NM_001407681.1:c.5350A>G
NM_001407682.1:c.5350A>G
NM_001407683.1:c.5350A>G
NM_001407684.1:c.5350A>G
NM_001407685.1:c.5350A>G
NM_001407686.1:c.5350A>G
NM_001407687.1:c.5350A>G
NM_001407688.1:c.5350A>G
NM_001407689.1:c.5350A>G
NM_001407690.1:c.5347A>G
NM_001407691.1:c.5347A>G
NM_001407692.1:c.5338A>G
NM_001407694.1:c.5338A>G
NM_001407695.1:c.5338A>G
NM_001407696.1:c.5338A>G
NM_001407697.1:c.5338A>G
NM_001407698.1:c.5338A>G
NM_001407724.1:c.5338A>G
NM_001407725.1:c.5338A>G
NM_001407726.1:c.5338A>G
NM_001407727.1:c.5338A>G
NM_001407728.1:c.5338A>G
NM_001407729.1:c.5338A>G
NM_001407730.1:c.5338A>G
NM_001407731.1:c.5338A>G
NM_001407732.1:c.5335A>G
NM_001407733.1:c.5335A>G
NM_001407734.1:c.5335A>G
NM_001407735.1:c.5335A>G
NM_001407736.1:c.5335A>G
NM_001407737.1:c.5335A>G
NM_001407738.1:c.5335A>G
NM_001407739.1:c.5335A>G
NM_001407740.1:c.5335A>G
NM_001407741.1:c.5335A>G
NM_001407742.1:c.5335A>G
NM_001407743.1:c.5335A>G
NM_001407744.1:c.5335A>G
NM_001407745.1:c.5335A>G
NM_001407746.1:c.5335A>G
NM_001407747.1:c.5335A>G
NM_001407748.1:c.5335A>G
NM_001407749.1:c.5335A>G
NM_001407750.1:c.5335A>G
NM_001407751.1:c.5335A>G
NM_001407752.1:c.5335A>G
NM_001407838.1:c.5332A>G
NM_001407839.1:c.5332A>G
NM_001407841.1:c.5332A>G
NM_001407842.1:c.5332A>G
NM_001407843.1:c.5332A>G
NM_001407844.1:c.5332A>G
NM_001407845.1:c.5332A>G
NM_001407846.1:c.5332A>G
NM_001407847.1:c.5332A>G
NM_001407848.1:c.5332A>G
NM_001407849.1:c.5332A>G
NM_001407850.1:c.5332A>G
NM_001407851.1:c.5332A>G
NM_001407852.1:c.5332A>G
NM_001407853.1:c.5332A>G
NM_001407854.1:c.5405A>G
NM_001407858.1:c.5402A>G
NM_001407859.1:c.5402A>G
NM_001407860.1:c.5402A>G
NM_001407861.1:c.5399A>G
NM_001407862.1:c.5278A>G
NM_001407863.1:c.5275A>G
NM_001407874.1:c.5272A>G
NM_001407875.1:c.5272A>G
NM_001407879.1:c.5269A>G
NM_001407881.1:c.5269A>G
NM_001407882.1:c.5269A>G
NM_001407884.1:c.5269A>G
NM_001407885.1:c.5269A>G
NM_001407886.1:c.5269A>G
NM_001407887.1:c.5269A>G
NM_001407889.1:c.5269A>G
NM_001407894.1:c.5266A>G
NM_001407895.1:c.5266A>G
NM_001407896.1:c.5266A>G
NM_001407897.1:c.5266A>G
NM_001407898.1:c.5266A>G
NM_001407899.1:c.5266A>G
NM_001407900.1:c.5266A>G
NM_001407902.1:c.5266A>G
NM_001407904.1:c.5266A>G
NM_001407906.1:c.5266A>G
NM_001407907.1:c.5266A>G
NM_001407908.1:c.5266A>G
NM_001407909.1:c.5266A>G
NM_001407910.1:c.5266A>G
NM_001407915.1:c.5263A>G
NM_001407916.1:c.5263A>G
NM_001407917.1:c.5263A>G
NM_001407918.1:c.5263A>G
NM_001407919.1:c.5227A>G
NM_001407920.1:c.5215A>G
NM_001407921.1:c.5215A>G
NM_001407922.1:c.5215A>G
NM_001407923.1:c.5215A>G
NM_001407924.1:c.5215A>G
NM_001407925.1:c.5215A>G
NM_001407926.1:c.5215A>G
NM_001407927.1:c.5212A>G
NM_001407928.1:c.5212A>G
NM_001407929.1:c.5212A>G
NM_001407930.1:c.5212A>G
NM_001407931.1:c.5212A>G
NM_001407932.1:c.5212A>G
NM_001407933.1:c.5212A>G
NM_001407934.1:c.5209A>G
NM_001407935.1:c.5209A>G
NM_001407936.1:c.5209A>G
NM_001407937.1:c.5282A>G
NM_001407938.1:c.5282A>G
NM_001407939.1:c.5279A>G
NM_001407940.1:c.5279A>G
NM_001407941.1:c.5276A>G
NM_001407942.1:c.5264A>G
NM_001407943.1:c.5261A>G
NM_001407944.1:c.5261A>G
NM_001407945.1:c.5261A>G
NM_001407946.1:c.5146A>G
NM_001407947.1:c.5146A>G
NM_001407948.1:c.5146A>G
NM_001407949.1:c.5146A>G
NM_001407950.1:c.5143A>G
NM_001407951.1:c.5143A>G
NM_001407952.1:c.5143A>G
NM_001407953.1:c.5143A>G
NM_001407954.1:c.5143A>G
NM_001407955.1:c.5143A>G
NM_001407956.1:c.5140A>G
NM_001407957.1:c.5140A>G
NM_001407958.1:c.5140A>G
NM_001407959.1:c.5098A>G
NM_001407960.1:c.5095A>G
NM_001407962.1:c.5095A>G
NM_001407963.1:c.5092A>G
NM_001407964.1:c.5017A>G
NM_001407965.1:c.4972A>G
NM_001407966.1:c.4591A>G
NM_001407967.1:c.4588A>G
NM_001407968.1:c.2875A>G
NM_001407969.1:c.2872A>G
NM_001407970.1:c.2236A>G
NM_001407971.1:c.2236A>G
NM_001407972.1:c.2233A>G
NM_001407973.1:c.2170A>G
NM_001407974.1:c.2170A>G
NM_001407975.1:c.2170A>G
NM_001407976.1:c.2170A>G
NM_001407977.1:c.2170A>G
NM_001407978.1:c.2170A>G
NM_001407979.1:c.2167A>G
NM_001407980.1:c.2167A>G
NM_001407981.1:c.2167A>G
NM_001407982.1:c.2167A>G
NM_001407983.1:c.2167A>G
NM_001407984.1:c.2167A>G
NM_001407985.1:c.2167A>G
NM_001407986.1:c.2167A>G
NM_001407990.1:c.2167A>G
NM_001407991.1:c.2167A>G
NM_001407992.1:c.2167A>G
NM_001407993.1:c.2167A>G
NM_001408392.1:c.2164A>G
NM_001408396.1:c.2164A>G
NM_001408397.1:c.2164A>G
NM_001408398.1:c.2164A>G
NM_001408399.1:c.2164A>G
NM_001408400.1:c.2164A>G
NM_001408401.1:c.2164A>G
NM_001408402.1:c.2164A>G
NM_001408403.1:c.2164A>G
NM_001408404.1:c.2164A>G
NM_001408406.1:c.2161A>G
NM_001408407.1:c.2161A>G
NM_001408408.1:c.2161A>G
NM_001408409.1:c.2158A>G
NM_001408410.1:c.2095A>G
NM_001408411.1:c.2092A>G
NM_001408412.1:c.2089A>G
NM_001408413.1:c.2089A>G
NM_001408414.1:c.2089A>G
NM_001408415.1:c.2089A>G
NM_001408416.1:c.2089A>G
NM_001408418.1:c.2053A>G
NM_001408419.1:c.2053A>G
NM_001408420.1:c.2053A>G
NM_001408421.1:c.2050A>G
NM_001408422.1:c.2050A>G
NM_001408423.1:c.2050A>G
NM_001408424.1:c.2050A>G
NM_001408425.1:c.2047A>G
NM_001408426.1:c.2047A>G
NM_001408427.1:c.2047A>G
NM_001408428.1:c.2047A>G
NM_001408429.1:c.2047A>G
NM_001408430.1:c.2047A>G
NM_001408431.1:c.2047A>G
NM_001408432.1:c.2044A>G
NM_001408433.1:c.2044A>G
NM_001408434.1:c.2044A>G
NM_001408435.1:c.2044A>G
NM_001408436.1:c.2044A>G
NM_001408437.1:c.2044A>G
NM_001408438.1:c.2044A>G
NM_001408439.1:c.2044A>G
NM_001408440.1:c.2044A>G
NM_001408441.1:c.2044A>G
NM_001408442.1:c.2044A>G
NM_001408443.1:c.2044A>G
NM_001408444.1:c.2044A>G
NM_001408445.1:c.2041A>G
NM_001408446.1:c.2041A>G
NM_001408447.1:c.2041A>G
NM_001408448.1:c.2041A>G
NM_001408450.1:c.2041A>G
NM_001408451.1:c.2035A>G
NM_001408452.1:c.2029A>G
NM_001408453.1:c.2029A>G
NM_001408454.1:c.2029A>G
NM_001408455.1:c.2029A>G
NM_001408456.1:c.2029A>G
NM_001408457.1:c.2029A>G
NM_001408458.1:c.2026A>G
NM_001408459.1:c.2026A>G
NM_001408460.1:c.2026A>G
NM_001408461.1:c.2026A>G
NM_001408462.1:c.2026A>G
NM_001408463.1:c.2026A>G
NM_001408464.1:c.2026A>G
NM_001408465.1:c.2026A>G
NM_001408466.1:c.2026A>G
NM_001408467.1:c.2026A>G
NM_001408468.1:c.2023A>G
NM_001408469.1:c.2023A>G
NM_001408470.1:c.2023A>G
NM_001408472.1:c.2093A>G
NM_001408473.1:c.2090A>G
NM_001408474.1:c.1969A>G
NM_001408475.1:c.1966A>G
NM_001408476.1:c.1966A>G
NM_001408478.1:c.1960A>G
NM_001408479.1:c.1960A>G
NM_001408480.1:c.1960A>G
NM_001408481.1:c.1957A>G
NM_001408482.1:c.1957A>G
NM_001408483.1:c.1957A>G
NM_001408484.1:c.1957A>G
NM_001408485.1:c.1957A>G
NM_001408489.1:c.1957A>G
NM_001408490.1:c.1957A>G
NM_001408491.1:c.1957A>G
NM_001408492.1:c.1954A>G
NM_001408493.1:c.1954A>G
NM_001408494.1:c.1930A>G
NM_001408495.1:c.1924A>G
NM_001408496.1:c.1906A>G
NM_001408497.1:c.1906A>G
NM_001408498.1:c.1906A>G
NM_001408499.1:c.1906A>G
NM_001408500.1:c.1906A>G
NM_001408501.1:c.1906A>G
NM_001408502.1:c.1903A>G
NM_001408503.1:c.1903A>G
NM_001408504.1:c.1903A>G
NM_001408505.1:c.1900A>G
NM_001408506.1:c.1843A>G
NM_001408507.1:c.1840A>G
NM_001408508.1:c.1831A>G
NM_001408509.1:c.1828A>G
NM_001408510.1:c.1789A>G
NM_001408511.1:c.1786A>G
NM_001408512.1:c.1666A>G
NM_001408513.1:c.1639A>G
NM_001408514.1:c.1243A>G
NM_007294.4:c.5479A>GMANE SELECT
NM_007297.4:c.5338A>G
NM_007298.4:c.2167A>G
NM_007299.4:c.2093A>G
NM_007300.4:c.5542A>G
NM_007304.2:c.2167A>G
NP_001394500.1:p.Met1756Val
NP_001394510.1:p.Met1849Val
NP_001394511.1:p.Met1849Val
NP_001394512.1:p.Met1848Val
NP_001394514.1:p.Met1848Val
NP_001394516.1:p.Met1848Val
NP_001394519.1:p.Met1847Val
NP_001394520.1:p.Met1847Val
NP_001394522.1:p.Met1827Val
NP_001394523.1:p.Met1827Val
NP_001394525.1:p.Met1827Val
NP_001394526.1:p.Met1827Val
NP_001394527.1:p.Met1827Val
NP_001394531.1:p.Met1827Val
NP_001394532.1:p.Met1827Val
NP_001394534.1:p.Met1827Val
NP_001394539.1:p.Met1826Val
NP_001394540.1:p.Met1826Val
NP_001394541.1:p.Met1826Val
NP_001394542.1:p.Met1826Val
NP_001394543.1:p.Met1826Val
NP_001394544.1:p.Met1826Val
NP_001394545.1:p.Met1826Val
NP_001394546.1:p.Met1826Val
NP_001394547.1:p.Met1826Val
NP_001394548.1:p.Met1826Val
NP_001394549.1:p.Met1826Val
NP_001394550.1:p.Met1826Val
NP_001394551.1:p.Met1826Val
NP_001394552.1:p.Met1826Val
NP_001394553.1:p.Met1826Val
NP_001394554.1:p.Met1826Val
NP_001394555.1:p.Met1826Val
NP_001394556.1:p.Met1825Val
NP_001394557.1:p.Met1825Val
NP_001394558.1:p.Met1825Val
NP_001394559.1:p.Met1825Val
NP_001394560.1:p.Met1825Val
NP_001394561.1:p.Met1825Val
NP_001394562.1:p.Met1825Val
NP_001394563.1:p.Met1825Val
NP_001394564.1:p.Met1825Val
NP_001394565.1:p.Met1825Val
NP_001394566.1:p.Met1825Val
NP_001394567.1:p.Met1825Val
NP_001394568.1:p.Met1825Val
NP_001394569.1:p.Met1825Val
NP_001394570.1:p.Met1825Val
NP_001394571.1:p.Met1825Val
NP_001394573.1:p.Met1824Val
NP_001394574.1:p.Met1824Val
NP_001394575.1:p.Met1823Val
NP_001394576.1:p.Met1822Val
NP_001394577.1:p.Met1808Val
NP_001394578.1:p.Met1807Val
NP_001394581.1:p.Met1801Val
NP_001394582.1:p.Met1801Val
NP_001394583.1:p.Met1801Val
NP_001394584.1:p.Met1801Val
NP_001394585.1:p.Met1800Val
NP_001394586.1:p.Met1800Val
NP_001394587.1:p.Met1800Val
NP_001394588.1:p.Met1799Val
NP_001394589.1:p.Met1799Val
NP_001394590.1:p.Met1799Val
NP_001394591.1:p.Met1799Val
NP_001394592.1:p.Met1799Val
NP_001394593.1:p.Met1786Val
NP_001394594.1:p.Met1786Val
NP_001394595.1:p.Met1786Val
NP_001394596.1:p.Met1786Val
NP_001394597.1:p.Met1786Val
NP_001394598.1:p.Met1786Val
NP_001394599.1:p.Met1785Val
NP_001394600.1:p.Met1785Val
NP_001394601.1:p.Met1785Val
NP_001394602.1:p.Met1785Val
NP_001394603.1:p.Met1785Val
NP_001394604.1:p.Met1785Val
NP_001394605.1:p.Met1785Val
NP_001394606.1:p.Met1785Val
NP_001394607.1:p.Met1785Val
NP_001394608.1:p.Met1785Val
NP_001394609.1:p.Met1785Val
NP_001394610.1:p.Met1784Val
NP_001394611.1:p.Met1784Val
NP_001394612.1:p.Met1784Val
NP_001394613.1:p.Met1784Val
NP_001394614.1:p.Met1784Val
NP_001394615.1:p.Met1784Val
NP_001394616.1:p.Met1784Val
NP_001394617.1:p.Met1784Val
NP_001394618.1:p.Met1784Val
NP_001394619.1:p.Met1783Val
NP_001394620.1:p.Met1783Val
NP_001394621.1:p.Met1780Val
NP_001394623.1:p.Met1780Val
NP_001394624.1:p.Met1780Val
NP_001394625.1:p.Met1780Val
NP_001394626.1:p.Met1780Val
NP_001394627.1:p.Met1780Val
NP_001394653.1:p.Met1780Val
NP_001394654.1:p.Met1780Val
NP_001394655.1:p.Met1780Val
NP_001394656.1:p.Met1780Val
NP_001394657.1:p.Met1780Val
NP_001394658.1:p.Met1780Val
NP_001394659.1:p.Met1780Val
NP_001394660.1:p.Met1780Val
NP_001394661.1:p.Met1779Val
NP_001394662.1:p.Met1779Val
NP_001394663.1:p.Met1779Val
NP_001394664.1:p.Met1779Val
NP_001394665.1:p.Met1779Val
NP_001394666.1:p.Met1779Val
NP_001394667.1:p.Met1779Val
NP_001394668.1:p.Met1779Val
NP_001394669.1:p.Met1779Val
NP_001394670.1:p.Met1779Val
NP_001394671.1:p.Met1779Val
NP_001394672.1:p.Met1779Val
NP_001394673.1:p.Met1779Val
NP_001394674.1:p.Met1779Val
NP_001394675.1:p.Met1779Val
NP_001394676.1:p.Met1779Val
NP_001394677.1:p.Met1779Val
NP_001394678.1:p.Met1779Val
NP_001394679.1:p.Met1779Val
NP_001394680.1:p.Met1779Val
NP_001394681.1:p.Met1779Val
NP_001394767.1:p.Met1778Val
NP_001394768.1:p.Met1778Val
NP_001394770.1:p.Met1778Val
NP_001394771.1:p.Met1778Val
NP_001394772.1:p.Met1778Val
NP_001394773.1:p.Met1778Val
NP_001394774.1:p.Met1778Val
NP_001394775.1:p.Met1778Val
NP_001394776.1:p.Met1778Val
NP_001394777.1:p.Met1778Val
NP_001394778.1:p.Met1778Val
NP_001394779.1:p.Met1778Val
NP_001394780.1:p.Met1778Val
NP_001394781.1:p.Met1778Val
NP_001394782.1:p.Met1778Val
NP_001394783.1:p.Asp1802Gly
NP_001394787.1:p.Asp1801Gly
NP_001394788.1:p.Asp1801Gly
NP_001394789.1:p.Asp1801Gly
NP_001394790.1:p.Asp1800Gly
NP_001394791.1:p.Met1760Val
NP_001394792.1:p.Met1759Val
NP_001394803.1:p.Met1758Val
NP_001394804.1:p.Met1758Val
NP_001394808.1:p.Met1757Val
NP_001394810.1:p.Met1757Val
NP_001394811.1:p.Met1757Val
NP_001394813.1:p.Met1757Val
NP_001394814.1:p.Met1757Val
NP_001394815.1:p.Met1757Val
NP_001394816.1:p.Met1757Val
NP_001394818.1:p.Met1757Val
NP_001394823.1:p.Met1756Val
NP_001394824.1:p.Met1756Val
NP_001394825.1:p.Met1756Val
NP_001394826.1:p.Met1756Val
NP_001394827.1:p.Met1756Val
NP_001394828.1:p.Met1756Val
NP_001394829.1:p.Met1756Val
NP_001394831.1:p.Met1756Val
NP_001394833.1:p.Met1756Val
NP_001394835.1:p.Met1756Val
NP_001394836.1:p.Met1756Val
NP_001394837.1:p.Met1756Val
NP_001394838.1:p.Met1756Val
NP_001394839.1:p.Met1756Val
NP_001394844.1:p.Met1755Val
NP_001394845.1:p.Met1755Val
NP_001394846.1:p.Met1755Val
NP_001394847.1:p.Met1755Val
NP_001394848.1:p.Met1743Val
NP_001394849.1:p.Met1739Val
NP_001394850.1:p.Met1739Val
NP_001394851.1:p.Met1739Val
NP_001394852.1:p.Met1739Val
NP_001394853.1:p.Met1739Val
NP_001394854.1:p.Met1739Val
NP_001394855.1:p.Met1739Val
NP_001394856.1:p.Met1738Val
NP_001394857.1:p.Met1738Val
NP_001394858.1:p.Met1738Val
NP_001394859.1:p.Met1738Val
NP_001394860.1:p.Met1738Val
NP_001394861.1:p.Met1738Val
NP_001394862.1:p.Met1738Val
NP_001394863.1:p.Met1737Val
NP_001394864.1:p.Met1737Val
NP_001394865.1:p.Met1737Val
NP_001394866.1:p.Asp1761Gly
NP_001394867.1:p.Asp1761Gly
NP_001394868.1:p.Asp1760Gly
NP_001394869.1:p.Asp1760Gly
NP_001394870.1:p.Asp1759Gly
NP_001394871.1:p.Asp1755Gly
NP_001394872.1:p.Asp1754Gly
NP_001394873.1:p.Asp1754Gly
NP_001394874.1:p.Asp1754Gly
NP_001394875.1:p.Met1716Val
NP_001394876.1:p.Met1716Val
NP_001394877.1:p.Met1716Val
NP_001394878.1:p.Met1716Val
NP_001394879.1:p.Met1715Val
NP_001394880.1:p.Met1715Val
NP_001394881.1:p.Met1715Val
NP_001394882.1:p.Met1715Val
NP_001394883.1:p.Met1715Val
NP_001394884.1:p.Met1715Val
NP_001394885.1:p.Met1714Val
NP_001394886.1:p.Met1714Val
NP_001394887.1:p.Met1714Val
NP_001394888.1:p.Met1700Val
NP_001394889.1:p.Met1699Val
NP_001394891.1:p.Met1699Val
NP_001394892.1:p.Met1698Val
NP_001394893.1:p.Met1673Val
NP_001394894.1:p.Met1658Val
NP_001394895.1:p.Met1531Val
NP_001394896.1:p.Met1530Val
NP_001394897.1:p.Met959Val
NP_001394898.1:p.Met958Val
NP_001394899.1:p.Met746Val
NP_001394900.1:p.Met746Val
NP_001394901.1:p.Met745Val
NP_001394902.1:p.Met724Val
NP_001394903.1:p.Met724Val
NP_001394904.1:p.Met724Val
NP_001394905.1:p.Met724Val
NP_001394906.1:p.Met724Val
NP_001394907.1:p.Met724Val
NP_001394908.1:p.Met723Val
NP_001394909.1:p.Met723Val
NP_001394910.1:p.Met723Val
NP_001394911.1:p.Met723Val
NP_001394912.1:p.Met723Val
NP_001394913.1:p.Met723Val
NP_001394914.1:p.Met723Val
NP_001394915.1:p.Met723Val
NP_001394919.1:p.Met723Val
NP_001394920.1:p.Met723Val
NP_001394921.1:p.Met723Val
NP_001394922.1:p.Met723Val
NP_001395321.1:p.Met722Val
NP_001395325.1:p.Met722Val
NP_001395326.1:p.Met722Val
NP_001395327.1:p.Met722Val
NP_001395328.1:p.Met722Val
NP_001395329.1:p.Met722Val
NP_001395330.1:p.Met722Val
NP_001395331.1:p.Met722Val
NP_001395332.1:p.Met722Val
NP_001395333.1:p.Met722Val
NP_001395335.1:p.Met721Val
NP_001395336.1:p.Met721Val
NP_001395337.1:p.Met721Val
NP_001395338.1:p.Met720Val
NP_001395339.1:p.Met699Val
NP_001395340.1:p.Met698Val
NP_001395341.1:p.Met697Val
NP_001395342.1:p.Met697Val
NP_001395343.1:p.Met697Val
NP_001395344.1:p.Met697Val
NP_001395345.1:p.Met697Val
NP_001395347.1:p.Met685Val
NP_001395348.1:p.Met685Val
NP_001395349.1:p.Met685Val
NP_001395350.1:p.Met684Val
NP_001395351.1:p.Met684Val
NP_001395352.1:p.Met684Val
NP_001395353.1:p.Met684Val
NP_001395354.1:p.Met683Val
NP_001395355.1:p.Met683Val
NP_001395356.1:p.Met683Val
NP_001395357.1:p.Met683Val
NP_001395358.1:p.Met683Val
NP_001395359.1:p.Met683Val
NP_001395360.1:p.Met683Val
NP_001395361.1:p.Met682Val
NP_001395362.1:p.Met682Val
NP_001395363.1:p.Met682Val
NP_001395364.1:p.Met682Val
NP_001395365.1:p.Met682Val
NP_001395366.1:p.Met682Val
NP_001395367.1:p.Met682Val
NP_001395368.1:p.Met682Val
NP_001395369.1:p.Met682Val
NP_001395370.1:p.Met682Val
NP_001395371.1:p.Met682Val
NP_001395372.1:p.Met682Val
NP_001395373.1:p.Met682Val
NP_001395374.1:p.Met681Val
NP_001395375.1:p.Met681Val
NP_001395376.1:p.Met681Val
NP_001395377.1:p.Met681Val
NP_001395379.1:p.Met681Val
NP_001395380.1:p.Met679Val
NP_001395381.1:p.Met677Val
NP_001395382.1:p.Met677Val
NP_001395383.1:p.Met677Val
NP_001395384.1:p.Met677Val
NP_001395385.1:p.Met677Val
NP_001395386.1:p.Met677Val
NP_001395387.1:p.Met676Val
NP_001395388.1:p.Met676Val
NP_001395389.1:p.Met676Val
NP_001395390.1:p.Met676Val
NP_001395391.1:p.Met676Val
NP_001395392.1:p.Met676Val
NP_001395393.1:p.Met676Val
NP_001395394.1:p.Met676Val
NP_001395395.1:p.Met676Val
NP_001395396.1:p.Met676Val
NP_001395397.1:p.Met675Val
NP_001395398.1:p.Met675Val
NP_001395399.1:p.Met675Val
NP_001395401.1:p.Asp698Gly
NP_001395402.1:p.Asp697Gly
NP_001395403.1:p.Met657Val
NP_001395404.1:p.Met656Val
NP_001395405.1:p.Met656Val
NP_001395407.1:p.Met654Val
NP_001395408.1:p.Met654Val
NP_001395409.1:p.Met654Val
NP_001395410.1:p.Met653Val
NP_001395411.1:p.Met653Val
NP_001395412.1:p.Met653Val
NP_001395413.1:p.Met653Val
NP_001395414.1:p.Met653Val
NP_001395418.1:p.Met653Val
NP_001395419.1:p.Met653Val
NP_001395420.1:p.Met653Val
NP_001395421.1:p.Met652Val
NP_001395422.1:p.Met652Val
NP_001395423.1:p.Met644Val
NP_001395424.1:p.Met642Val
NP_001395425.1:p.Met636Val
NP_001395426.1:p.Met636Val
NP_001395427.1:p.Met636Val
NP_001395428.1:p.Met636Val
NP_001395429.1:p.Met636Val
NP_001395430.1:p.Met636Val
NP_001395431.1:p.Met635Val
NP_001395432.1:p.Met635Val
NP_001395433.1:p.Met635Val
NP_001395434.1:p.Met634Val
NP_001395435.1:p.Met615Val
NP_001395436.1:p.Met614Val
NP_001395437.1:p.Met611Val
NP_001395438.1:p.Met610Val
NP_001395439.1:p.Met597Val
NP_001395440.1:p.Met596Val
NP_001395441.1:p.Met556Val
NP_001395442.1:p.Met547Val
NP_001395443.1:p.Met415Val
NP_009225.1:p.Met1827Val
NP_009225.1:p.Met1827Val
NP_009228.2:p.Met1780Val
NP_009229.2:p.Met723Val
NP_009229.2:p.Met723Val
NP_009230.2:p.Asp698Gly
NP_009231.2:p.Met1848Val
NP_009235.2:p.Met723Val
LRG_292t1:c.5479A>G
LRG_292:g.172193A>G
LRG_292p1:p.Met1827Val
NC_000017.10:g.41197808T>C
NM_007294.3:c.5479A>G
NM_007298.3:c.2167A>G
NR_027676.2:n.5656A>G

Protein change:

D1754G

Links:

dbSNP: rs771606902

NCBI 1000 Genomes Browser:

rs771606902

Molecular consequence:

NM_001407571.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.5545A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.5545A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.5542A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.5542A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.5542A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.5539A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.5539A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.5476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.5473A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.5470A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.5470A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.5467A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.5464A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.5422A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.5419A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.5401A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.5401A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.5401A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.5401A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.5398A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.5398A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.5398A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.5395A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.5395A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.5395A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.5395A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.5395A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.5356A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.5356A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.5356A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.5356A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.5356A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.5356A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.5353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.5350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.5347A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.5347A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.5335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.5332A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.5405A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.5402A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.5402A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.5402A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.5399A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.5278A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.5275A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.5272A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.5272A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.5269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.5269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.5269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.5269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.5269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.5269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.5269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.5269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.5266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.5263A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.5263A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.5263A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.5263A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.5227A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.5215A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.5215A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.5215A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.5215A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.5215A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.5215A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.5215A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.5212A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.5212A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.5212A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.5212A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.5212A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.5212A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.5212A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.5209A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.5209A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.5209A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.5282A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.5282A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.5279A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.5279A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.5276A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.5264A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.5261A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.5261A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.5261A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.5146A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.5146A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.5146A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.5146A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.5143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.5143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.5143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.5143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.5143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.5143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.5140A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.5140A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.5140A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.5098A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.5095A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.5095A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.5092A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.5017A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.4591A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.4588A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2875A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2872A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.2236A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.2236A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.2233A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.2170A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.2170A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.2170A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.2170A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.2170A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.2170A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.2161A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.2161A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.2161A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.2095A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.2092A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.2053A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.2053A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.2053A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.2047A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.2047A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.2047A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.2047A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.2047A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.2047A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.2047A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.2029A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.2029A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.2029A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.2029A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.2029A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.2029A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.2093A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.2090A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1969A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1966A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1966A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1960A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1960A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1960A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1930A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1924A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1906A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1906A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1906A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1906A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1906A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1906A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1900A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1843A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.1840A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.1828A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.1789A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.1666A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408513.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408514.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.5338A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.2093A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.5542A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.5656A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

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
SCV001237559	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV005058284	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 2, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005402715	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Dawood et al. (medRxiv. 2024))	Likely Benign (Apr 12, 2024)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 39142283, 34793697, 38645101

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001237559

Brotman Baty Institute, University of Washington

no classification provided

not provided

not applicable

in vitro

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

Citation Link,

SCV005058284

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 2, 2024)

unknown

clinical testing

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

SCV005402715

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Dawood et al. (medRxiv. 2024))

Likely Benign
(Apr 12, 2024)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]

PMID:: 30209399
PMCID:: PMC6181777

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

See all PubMed Citations (5)

Details of each submission

From Brotman Baty Institute, University of Washington, SCV001237559.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

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

From Baylor Genetics, SCV005058284.1

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

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

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV005402715.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

Description

Each variant was annotated with functional scores from MAVE data which was translated into functional evidence codes. All other evidence codes and combining criteria were adhered to as closely as possible based on the ClinGen VCEP (Variant Curation Expert Panel) gene-specific recommendations. See Supplemental Figure 34 of final paper (Supp Fig. 28 in preprint: doi:10.1101/2024.04.11.24305690) for a table to see which lines of evidence we did not have data for. The ClinGen VCEPs are highly regarded as the gold-standard for gene-specific variant curation and are developed after extensive evaluation of the evidence by clinical and scientific experts for the particular gene to classify genomic variants on a spectrum from pathogenic to benign using the 2015 ACMG/AMP Variant Interpretation Guidelines as a backbone (PMID: 25741868). Reclassification of these VUS variants from gnomAD or All of Us focused only on variants originally prescribed as VUS in ClinVar. To ensure reproducibility, transparency, and increased throughput, all the procedures for annotating variants and assigning evidence codes were codified using Python. All code has been made freely available and is linked in the Code Availability section and all reclassified variants with evidence codes used can be found in Tables S18-19 (preprint: doi:10.1101/2024.04.11.24305690). For the MAVE data, the clinical curation and clinical strength assignment as per the ClinGen recommendations in Brnich et al. (2020) (PMID: 31892348) for or against pathogenicity or benignity of each of these MAVE datasets utilized in this study were previously published in Fayer et al. (2021) (PMID: 34793697).In brief, for BRCA1 variants, if a variant was categorized as FUNC (functional), it was assigned BS3 evidence and no PS3 evidence, whereas if it was categorized as LOF (loss of function), the variant was assigned PS3 evidence and no BS3 evidence. Variants categorized as INT (intermediate) were left unannotated. For the BRCA1 combining criteria, greater than or equal to 1 criteria of strong benign evidence was enough to reclassify the VUS as Likely Benign. This variant GRCh37:17:41197808:T>C was assigned evidence codes ['BS3', 'BP4'] and an overall classification of Likely Benign

#	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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine