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NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Oct 31, 2023
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:
RCV001853601.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)]

NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)

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.4185G>C (p.Gln1395His)
HGVS:
  • NC_000017.11:g.43090944C>G
  • NG_005905.2:g.127040G>C
  • NM_001407571.1:c.3972G>C
  • NM_001407581.1:c.4185G>C
  • NM_001407582.1:c.4185G>C
  • NM_001407583.1:c.4185G>C
  • NM_001407585.1:c.4185G>C
  • NM_001407587.1:c.4182G>C
  • NM_001407590.1:c.4182G>C
  • NM_001407591.1:c.4182G>C
  • NM_001407593.1:c.4185G>C
  • NM_001407594.1:c.4185G>C
  • NM_001407596.1:c.4185G>C
  • NM_001407597.1:c.4185G>C
  • NM_001407598.1:c.4185G>C
  • NM_001407602.1:c.4185G>C
  • NM_001407603.1:c.4185G>C
  • NM_001407605.1:c.4185G>C
  • NM_001407610.1:c.4182G>C
  • NM_001407611.1:c.4182G>C
  • NM_001407612.1:c.4182G>C
  • NM_001407613.1:c.4182G>C
  • NM_001407614.1:c.4182G>C
  • NM_001407615.1:c.4182G>C
  • NM_001407616.1:c.4185G>C
  • NM_001407617.1:c.4185G>C
  • NM_001407618.1:c.4185G>C
  • NM_001407619.1:c.4185G>C
  • NM_001407620.1:c.4185G>C
  • NM_001407621.1:c.4185G>C
  • NM_001407622.1:c.4185G>C
  • NM_001407623.1:c.4185G>C
  • NM_001407624.1:c.4185G>C
  • NM_001407625.1:c.4185G>C
  • NM_001407626.1:c.4185G>C
  • NM_001407627.1:c.4182G>C
  • NM_001407628.1:c.4182G>C
  • NM_001407629.1:c.4182G>C
  • NM_001407630.1:c.4182G>C
  • NM_001407631.1:c.4182G>C
  • NM_001407632.1:c.4182G>C
  • NM_001407633.1:c.4182G>C
  • NM_001407634.1:c.4182G>C
  • NM_001407635.1:c.4182G>C
  • NM_001407636.1:c.4182G>C
  • NM_001407637.1:c.4182G>C
  • NM_001407638.1:c.4182G>C
  • NM_001407639.1:c.4185G>C
  • NM_001407640.1:c.4185G>C
  • NM_001407641.1:c.4185G>C
  • NM_001407642.1:c.4185G>C
  • NM_001407644.1:c.4182G>C
  • NM_001407645.1:c.4182G>C
  • NM_001407646.1:c.4176G>C
  • NM_001407647.1:c.4176G>C
  • NM_001407648.1:c.4062G>C
  • NM_001407649.1:c.4059G>C
  • NM_001407652.1:c.4185G>C
  • NM_001407653.1:c.4107G>C
  • NM_001407654.1:c.4107G>C
  • NM_001407655.1:c.4107G>C
  • NM_001407656.1:c.4107G>C
  • NM_001407657.1:c.4107G>C
  • NM_001407658.1:c.4107G>C
  • NM_001407659.1:c.4104G>C
  • NM_001407660.1:c.4104G>C
  • NM_001407661.1:c.4104G>C
  • NM_001407662.1:c.4104G>C
  • NM_001407663.1:c.4107G>C
  • NM_001407664.1:c.4062G>C
  • NM_001407665.1:c.4062G>C
  • NM_001407666.1:c.4062G>C
  • NM_001407667.1:c.4062G>C
  • NM_001407668.1:c.4062G>C
  • NM_001407669.1:c.4062G>C
  • NM_001407670.1:c.4059G>C
  • NM_001407671.1:c.4059G>C
  • NM_001407672.1:c.4059G>C
  • NM_001407673.1:c.4059G>C
  • NM_001407674.1:c.4062G>C
  • NM_001407675.1:c.4062G>C
  • NM_001407676.1:c.4062G>C
  • NM_001407677.1:c.4062G>C
  • NM_001407678.1:c.4062G>C
  • NM_001407679.1:c.4062G>C
  • NM_001407680.1:c.4062G>C
  • NM_001407681.1:c.4062G>C
  • NM_001407682.1:c.4062G>C
  • NM_001407683.1:c.4062G>C
  • NM_001407684.1:c.4185G>C
  • NM_001407685.1:c.4059G>C
  • NM_001407686.1:c.4059G>C
  • NM_001407687.1:c.4059G>C
  • NM_001407688.1:c.4059G>C
  • NM_001407689.1:c.4059G>C
  • NM_001407690.1:c.4059G>C
  • NM_001407691.1:c.4059G>C
  • NM_001407692.1:c.4044G>C
  • NM_001407694.1:c.4044G>C
  • NM_001407695.1:c.4044G>C
  • NM_001407696.1:c.4044G>C
  • NM_001407697.1:c.4044G>C
  • NM_001407698.1:c.4044G>C
  • NM_001407724.1:c.4044G>C
  • NM_001407725.1:c.4044G>C
  • NM_001407726.1:c.4044G>C
  • NM_001407727.1:c.4044G>C
  • NM_001407728.1:c.4044G>C
  • NM_001407729.1:c.4044G>C
  • NM_001407730.1:c.4044G>C
  • NM_001407731.1:c.4044G>C
  • NM_001407732.1:c.4044G>C
  • NM_001407733.1:c.4044G>C
  • NM_001407734.1:c.4044G>C
  • NM_001407735.1:c.4044G>C
  • NM_001407736.1:c.4044G>C
  • NM_001407737.1:c.4044G>C
  • NM_001407738.1:c.4044G>C
  • NM_001407739.1:c.4044G>C
  • NM_001407740.1:c.4041G>C
  • NM_001407741.1:c.4041G>C
  • NM_001407742.1:c.4041G>C
  • NM_001407743.1:c.4041G>C
  • NM_001407744.1:c.4041G>C
  • NM_001407745.1:c.4041G>C
  • NM_001407746.1:c.4041G>C
  • NM_001407747.1:c.4041G>C
  • NM_001407748.1:c.4041G>C
  • NM_001407749.1:c.4041G>C
  • NM_001407750.1:c.4044G>C
  • NM_001407751.1:c.4044G>C
  • NM_001407752.1:c.4044G>C
  • NM_001407838.1:c.4041G>C
  • NM_001407839.1:c.4041G>C
  • NM_001407841.1:c.4041G>C
  • NM_001407842.1:c.4041G>C
  • NM_001407843.1:c.4041G>C
  • NM_001407844.1:c.4041G>C
  • NM_001407845.1:c.4041G>C
  • NM_001407846.1:c.4041G>C
  • NM_001407847.1:c.4041G>C
  • NM_001407848.1:c.4041G>C
  • NM_001407849.1:c.4041G>C
  • NM_001407850.1:c.4044G>C
  • NM_001407851.1:c.4044G>C
  • NM_001407852.1:c.4044G>C
  • NM_001407853.1:c.3972G>C
  • NM_001407854.1:c.4185G>C
  • NM_001407858.1:c.4185G>C
  • NM_001407859.1:c.4185G>C
  • NM_001407860.1:c.4182G>C
  • NM_001407861.1:c.4182G>C
  • NM_001407862.1:c.3984G>C
  • NM_001407863.1:c.4062G>C
  • NM_001407874.1:c.3981G>C
  • NM_001407875.1:c.3981G>C
  • NM_001407879.1:c.3975G>C
  • NM_001407881.1:c.3975G>C
  • NM_001407882.1:c.3975G>C
  • NM_001407884.1:c.3975G>C
  • NM_001407885.1:c.3975G>C
  • NM_001407886.1:c.3975G>C
  • NM_001407887.1:c.3975G>C
  • NM_001407889.1:c.3975G>C
  • NM_001407894.1:c.3972G>C
  • NM_001407895.1:c.3972G>C
  • NM_001407896.1:c.3972G>C
  • NM_001407897.1:c.3972G>C
  • NM_001407898.1:c.3972G>C
  • NM_001407899.1:c.3972G>C
  • NM_001407900.1:c.3975G>C
  • NM_001407902.1:c.3975G>C
  • NM_001407904.1:c.3975G>C
  • NM_001407906.1:c.3975G>C
  • NM_001407907.1:c.3975G>C
  • NM_001407908.1:c.3975G>C
  • NM_001407909.1:c.3975G>C
  • NM_001407910.1:c.3975G>C
  • NM_001407915.1:c.3972G>C
  • NM_001407916.1:c.3972G>C
  • NM_001407917.1:c.3972G>C
  • NM_001407918.1:c.3972G>C
  • NM_001407919.1:c.4062G>C
  • NM_001407920.1:c.3921G>C
  • NM_001407921.1:c.3921G>C
  • NM_001407922.1:c.3921G>C
  • NM_001407923.1:c.3921G>C
  • NM_001407924.1:c.3921G>C
  • NM_001407925.1:c.3921G>C
  • NM_001407926.1:c.3921G>C
  • NM_001407927.1:c.3921G>C
  • NM_001407928.1:c.3921G>C
  • NM_001407929.1:c.3921G>C
  • NM_001407930.1:c.3918G>C
  • NM_001407931.1:c.3918G>C
  • NM_001407932.1:c.3918G>C
  • NM_001407933.1:c.3921G>C
  • NM_001407934.1:c.3918G>C
  • NM_001407935.1:c.3921G>C
  • NM_001407936.1:c.3918G>C
  • NM_001407937.1:c.4062G>C
  • NM_001407938.1:c.4062G>C
  • NM_001407939.1:c.4062G>C
  • NM_001407940.1:c.4059G>C
  • NM_001407941.1:c.4059G>C
  • NM_001407942.1:c.4044G>C
  • NM_001407943.1:c.4041G>C
  • NM_001407944.1:c.4044G>C
  • NM_001407945.1:c.4044G>C
  • NM_001407946.1:c.3852G>C
  • NM_001407947.1:c.3852G>C
  • NM_001407948.1:c.3852G>C
  • NM_001407949.1:c.3852G>C
  • NM_001407950.1:c.3852G>C
  • NM_001407951.1:c.3852G>C
  • NM_001407952.1:c.3852G>C
  • NM_001407953.1:c.3852G>C
  • NM_001407954.1:c.3849G>C
  • NM_001407955.1:c.3849G>C
  • NM_001407956.1:c.3849G>C
  • NM_001407957.1:c.3852G>C
  • NM_001407958.1:c.3849G>C
  • NM_001407959.1:c.3804G>C
  • NM_001407960.1:c.3804G>C
  • NM_001407962.1:c.3801G>C
  • NM_001407963.1:c.3804G>C
  • NM_001407964.1:c.4041G>C
  • NM_001407965.1:c.3681G>C
  • NM_001407966.1:c.3297G>C
  • NM_001407967.1:c.3297G>C
  • NM_001407968.1:c.1581G>C
  • NM_001407969.1:c.1581G>C
  • NM_001407970.1:c.876G>C
  • NM_001407971.1:c.876G>C
  • NM_001407972.1:c.873G>C
  • NM_001407973.1:c.876G>C
  • NM_001407974.1:c.876G>C
  • NM_001407975.1:c.876G>C
  • NM_001407976.1:c.876G>C
  • NM_001407977.1:c.876G>C
  • NM_001407978.1:c.876G>C
  • NM_001407979.1:c.876G>C
  • NM_001407980.1:c.876G>C
  • NM_001407981.1:c.876G>C
  • NM_001407982.1:c.876G>C
  • NM_001407983.1:c.876G>C
  • NM_001407984.1:c.873G>C
  • NM_001407985.1:c.873G>C
  • NM_001407986.1:c.873G>C
  • NM_001407990.1:c.876G>C
  • NM_001407991.1:c.873G>C
  • NM_001407992.1:c.873G>C
  • NM_001407993.1:c.876G>C
  • NM_001408392.1:c.873G>C
  • NM_001408396.1:c.873G>C
  • NM_001408397.1:c.873G>C
  • NM_001408398.1:c.873G>C
  • NM_001408399.1:c.873G>C
  • NM_001408400.1:c.873G>C
  • NM_001408401.1:c.873G>C
  • NM_001408402.1:c.873G>C
  • NM_001408403.1:c.876G>C
  • NM_001408404.1:c.876G>C
  • NM_001408406.1:c.870G>C
  • NM_001408407.1:c.873G>C
  • NM_001408408.1:c.867G>C
  • NM_001408409.1:c.798G>C
  • NM_001408410.1:c.735G>C
  • NM_001408411.1:c.798G>C
  • NM_001408412.1:c.798G>C
  • NM_001408413.1:c.795G>C
  • NM_001408414.1:c.798G>C
  • NM_001408415.1:c.798G>C
  • NM_001408416.1:c.795G>C
  • NM_001408418.1:c.759G>C
  • NM_001408419.1:c.759G>C
  • NM_001408420.1:c.759G>C
  • NM_001408421.1:c.756G>C
  • NM_001408422.1:c.759G>C
  • NM_001408423.1:c.759G>C
  • NM_001408424.1:c.756G>C
  • NM_001408425.1:c.753G>C
  • NM_001408426.1:c.753G>C
  • NM_001408427.1:c.753G>C
  • NM_001408428.1:c.753G>C
  • NM_001408429.1:c.753G>C
  • NM_001408430.1:c.753G>C
  • NM_001408431.1:c.756G>C
  • NM_001408432.1:c.750G>C
  • NM_001408433.1:c.750G>C
  • NM_001408434.1:c.750G>C
  • NM_001408435.1:c.750G>C
  • NM_001408436.1:c.753G>C
  • NM_001408437.1:c.753G>C
  • NM_001408438.1:c.753G>C
  • NM_001408439.1:c.753G>C
  • NM_001408440.1:c.753G>C
  • NM_001408441.1:c.753G>C
  • NM_001408442.1:c.753G>C
  • NM_001408443.1:c.753G>C
  • NM_001408444.1:c.753G>C
  • NM_001408445.1:c.750G>C
  • NM_001408446.1:c.750G>C
  • NM_001408447.1:c.750G>C
  • NM_001408448.1:c.750G>C
  • NM_001408450.1:c.750G>C
  • NM_001408451.1:c.741G>C
  • NM_001408452.1:c.735G>C
  • NM_001408453.1:c.735G>C
  • NM_001408454.1:c.735G>C
  • NM_001408455.1:c.735G>C
  • NM_001408456.1:c.735G>C
  • NM_001408457.1:c.735G>C
  • NM_001408458.1:c.735G>C
  • NM_001408459.1:c.735G>C
  • NM_001408460.1:c.735G>C
  • NM_001408461.1:c.735G>C
  • NM_001408462.1:c.732G>C
  • NM_001408463.1:c.732G>C
  • NM_001408464.1:c.732G>C
  • NM_001408465.1:c.732G>C
  • NM_001408466.1:c.735G>C
  • NM_001408467.1:c.735G>C
  • NM_001408468.1:c.732G>C
  • NM_001408469.1:c.735G>C
  • NM_001408470.1:c.732G>C
  • NM_001408472.1:c.876G>C
  • NM_001408473.1:c.873G>C
  • NM_001408474.1:c.675G>C
  • NM_001408475.1:c.672G>C
  • NM_001408476.1:c.675G>C
  • NM_001408478.1:c.666G>C
  • NM_001408479.1:c.666G>C
  • NM_001408480.1:c.666G>C
  • NM_001408481.1:c.666G>C
  • NM_001408482.1:c.666G>C
  • NM_001408483.1:c.666G>C
  • NM_001408484.1:c.666G>C
  • NM_001408485.1:c.666G>C
  • NM_001408489.1:c.666G>C
  • NM_001408490.1:c.663G>C
  • NM_001408491.1:c.663G>C
  • NM_001408492.1:c.666G>C
  • NM_001408493.1:c.663G>C
  • NM_001408494.1:c.636G>C
  • NM_001408495.1:c.633G>C
  • NM_001408496.1:c.612G>C
  • NM_001408497.1:c.612G>C
  • NM_001408498.1:c.612G>C
  • NM_001408499.1:c.612G>C
  • NM_001408500.1:c.612G>C
  • NM_001408501.1:c.612G>C
  • NM_001408502.1:c.543G>C
  • NM_001408503.1:c.609G>C
  • NM_001408504.1:c.609G>C
  • NM_001408505.1:c.609G>C
  • NM_001408506.1:c.549G>C
  • NM_001408507.1:c.549G>C
  • NM_001408508.1:c.540G>C
  • NM_001408509.1:c.540G>C
  • NM_001408510.1:c.495G>C
  • NM_001408511.1:c.492G>C
  • NM_001408512.1:c.372G>C
  • NM_001408513.1:c.666G>C
  • NM_001408514.1:c.666G>C
  • NM_007294.4:c.4185G>CMANE SELECT
  • NM_007297.4:c.4044G>C
  • NM_007298.4:c.876G>C
  • NM_007299.4:c.876G>C
  • NM_007300.4:c.4185G>C
  • NM_007304.2:c.876G>C
  • NP_001394500.1:p.Gln1324His
  • NP_001394510.1:p.Gln1395His
  • NP_001394511.1:p.Gln1395His
  • NP_001394512.1:p.Gln1395His
  • NP_001394514.1:p.Gln1395His
  • NP_001394516.1:p.Gln1394His
  • NP_001394519.1:p.Gln1394His
  • NP_001394520.1:p.Gln1394His
  • NP_001394522.1:p.Gln1395His
  • NP_001394523.1:p.Gln1395His
  • NP_001394525.1:p.Gln1395His
  • NP_001394526.1:p.Gln1395His
  • NP_001394527.1:p.Gln1395His
  • NP_001394531.1:p.Gln1395His
  • NP_001394532.1:p.Gln1395His
  • NP_001394534.1:p.Gln1395His
  • NP_001394539.1:p.Gln1394His
  • NP_001394540.1:p.Gln1394His
  • NP_001394541.1:p.Gln1394His
  • NP_001394542.1:p.Gln1394His
  • NP_001394543.1:p.Gln1394His
  • NP_001394544.1:p.Gln1394His
  • NP_001394545.1:p.Gln1395His
  • NP_001394546.1:p.Gln1395His
  • NP_001394547.1:p.Gln1395His
  • NP_001394548.1:p.Gln1395His
  • NP_001394549.1:p.Gln1395His
  • NP_001394550.1:p.Gln1395His
  • NP_001394551.1:p.Gln1395His
  • NP_001394552.1:p.Gln1395His
  • NP_001394553.1:p.Gln1395His
  • NP_001394554.1:p.Gln1395His
  • NP_001394555.1:p.Gln1395His
  • NP_001394556.1:p.Gln1394His
  • NP_001394557.1:p.Gln1394His
  • NP_001394558.1:p.Gln1394His
  • NP_001394559.1:p.Gln1394His
  • NP_001394560.1:p.Gln1394His
  • NP_001394561.1:p.Gln1394His
  • NP_001394562.1:p.Gln1394His
  • NP_001394563.1:p.Gln1394His
  • NP_001394564.1:p.Gln1394His
  • NP_001394565.1:p.Gln1394His
  • NP_001394566.1:p.Gln1394His
  • NP_001394567.1:p.Gln1394His
  • NP_001394568.1:p.Gln1395His
  • NP_001394569.1:p.Gln1395His
  • NP_001394570.1:p.Gln1395His
  • NP_001394571.1:p.Gln1395His
  • NP_001394573.1:p.Gln1394His
  • NP_001394574.1:p.Gln1394His
  • NP_001394575.1:p.Gln1392His
  • NP_001394576.1:p.Gln1392His
  • NP_001394577.1:p.Gln1354His
  • NP_001394578.1:p.Gln1353His
  • NP_001394581.1:p.Gln1395His
  • NP_001394582.1:p.Gln1369His
  • NP_001394583.1:p.Gln1369His
  • NP_001394584.1:p.Gln1369His
  • NP_001394585.1:p.Gln1369His
  • NP_001394586.1:p.Gln1369His
  • NP_001394587.1:p.Gln1369His
  • NP_001394588.1:p.Gln1368His
  • NP_001394589.1:p.Gln1368His
  • NP_001394590.1:p.Gln1368His
  • NP_001394591.1:p.Gln1368His
  • NP_001394592.1:p.Gln1369His
  • NP_001394593.1:p.Gln1354His
  • NP_001394594.1:p.Gln1354His
  • NP_001394595.1:p.Gln1354His
  • NP_001394596.1:p.Gln1354His
  • NP_001394597.1:p.Gln1354His
  • NP_001394598.1:p.Gln1354His
  • NP_001394599.1:p.Gln1353His
  • NP_001394600.1:p.Gln1353His
  • NP_001394601.1:p.Gln1353His
  • NP_001394602.1:p.Gln1353His
  • NP_001394603.1:p.Gln1354His
  • NP_001394604.1:p.Gln1354His
  • NP_001394605.1:p.Gln1354His
  • NP_001394606.1:p.Gln1354His
  • NP_001394607.1:p.Gln1354His
  • NP_001394608.1:p.Gln1354His
  • NP_001394609.1:p.Gln1354His
  • NP_001394610.1:p.Gln1354His
  • NP_001394611.1:p.Gln1354His
  • NP_001394612.1:p.Gln1354His
  • NP_001394613.1:p.Gln1395His
  • NP_001394614.1:p.Gln1353His
  • NP_001394615.1:p.Gln1353His
  • NP_001394616.1:p.Gln1353His
  • NP_001394617.1:p.Gln1353His
  • NP_001394618.1:p.Gln1353His
  • NP_001394619.1:p.Gln1353His
  • NP_001394620.1:p.Gln1353His
  • NP_001394621.1:p.Gln1348His
  • NP_001394623.1:p.Gln1348His
  • NP_001394624.1:p.Gln1348His
  • NP_001394625.1:p.Gln1348His
  • NP_001394626.1:p.Gln1348His
  • NP_001394627.1:p.Gln1348His
  • NP_001394653.1:p.Gln1348His
  • NP_001394654.1:p.Gln1348His
  • NP_001394655.1:p.Gln1348His
  • NP_001394656.1:p.Gln1348His
  • NP_001394657.1:p.Gln1348His
  • NP_001394658.1:p.Gln1348His
  • NP_001394659.1:p.Gln1348His
  • NP_001394660.1:p.Gln1348His
  • NP_001394661.1:p.Gln1348His
  • NP_001394662.1:p.Gln1348His
  • NP_001394663.1:p.Gln1348His
  • NP_001394664.1:p.Gln1348His
  • NP_001394665.1:p.Gln1348His
  • NP_001394666.1:p.Gln1348His
  • NP_001394667.1:p.Gln1348His
  • NP_001394668.1:p.Gln1348His
  • NP_001394669.1:p.Gln1347His
  • NP_001394670.1:p.Gln1347His
  • NP_001394671.1:p.Gln1347His
  • NP_001394672.1:p.Gln1347His
  • NP_001394673.1:p.Gln1347His
  • NP_001394674.1:p.Gln1347His
  • NP_001394675.1:p.Gln1347His
  • NP_001394676.1:p.Gln1347His
  • NP_001394677.1:p.Gln1347His
  • NP_001394678.1:p.Gln1347His
  • NP_001394679.1:p.Gln1348His
  • NP_001394680.1:p.Gln1348His
  • NP_001394681.1:p.Gln1348His
  • NP_001394767.1:p.Gln1347His
  • NP_001394768.1:p.Gln1347His
  • NP_001394770.1:p.Gln1347His
  • NP_001394771.1:p.Gln1347His
  • NP_001394772.1:p.Gln1347His
  • NP_001394773.1:p.Gln1347His
  • NP_001394774.1:p.Gln1347His
  • NP_001394775.1:p.Gln1347His
  • NP_001394776.1:p.Gln1347His
  • NP_001394777.1:p.Gln1347His
  • NP_001394778.1:p.Gln1347His
  • NP_001394779.1:p.Gln1348His
  • NP_001394780.1:p.Gln1348His
  • NP_001394781.1:p.Gln1348His
  • NP_001394782.1:p.Gln1324His
  • NP_001394783.1:p.Gln1395His
  • NP_001394787.1:p.Gln1395His
  • NP_001394788.1:p.Gln1395His
  • NP_001394789.1:p.Gln1394His
  • NP_001394790.1:p.Gln1394His
  • NP_001394791.1:p.Gln1328His
  • NP_001394792.1:p.Gln1354His
  • NP_001394803.1:p.Gln1327His
  • NP_001394804.1:p.Gln1327His
  • NP_001394808.1:p.Gln1325His
  • NP_001394810.1:p.Gln1325His
  • NP_001394811.1:p.Gln1325His
  • NP_001394813.1:p.Gln1325His
  • NP_001394814.1:p.Gln1325His
  • NP_001394815.1:p.Gln1325His
  • NP_001394816.1:p.Gln1325His
  • NP_001394818.1:p.Gln1325His
  • NP_001394823.1:p.Gln1324His
  • NP_001394824.1:p.Gln1324His
  • NP_001394825.1:p.Gln1324His
  • NP_001394826.1:p.Gln1324His
  • NP_001394827.1:p.Gln1324His
  • NP_001394828.1:p.Gln1324His
  • NP_001394829.1:p.Gln1325His
  • NP_001394831.1:p.Gln1325His
  • NP_001394833.1:p.Gln1325His
  • NP_001394835.1:p.Gln1325His
  • NP_001394836.1:p.Gln1325His
  • NP_001394837.1:p.Gln1325His
  • NP_001394838.1:p.Gln1325His
  • NP_001394839.1:p.Gln1325His
  • NP_001394844.1:p.Gln1324His
  • NP_001394845.1:p.Gln1324His
  • NP_001394846.1:p.Gln1324His
  • NP_001394847.1:p.Gln1324His
  • NP_001394848.1:p.Gln1354His
  • NP_001394849.1:p.Gln1307His
  • NP_001394850.1:p.Gln1307His
  • NP_001394851.1:p.Gln1307His
  • NP_001394852.1:p.Gln1307His
  • NP_001394853.1:p.Gln1307His
  • NP_001394854.1:p.Gln1307His
  • NP_001394855.1:p.Gln1307His
  • NP_001394856.1:p.Gln1307His
  • NP_001394857.1:p.Gln1307His
  • NP_001394858.1:p.Gln1307His
  • NP_001394859.1:p.Gln1306His
  • NP_001394860.1:p.Gln1306His
  • NP_001394861.1:p.Gln1306His
  • NP_001394862.1:p.Gln1307His
  • NP_001394863.1:p.Gln1306His
  • NP_001394864.1:p.Gln1307His
  • NP_001394865.1:p.Gln1306His
  • NP_001394866.1:p.Gln1354His
  • NP_001394867.1:p.Gln1354His
  • NP_001394868.1:p.Gln1354His
  • NP_001394869.1:p.Gln1353His
  • NP_001394870.1:p.Gln1353His
  • NP_001394871.1:p.Gln1348His
  • NP_001394872.1:p.Gln1347His
  • NP_001394873.1:p.Gln1348His
  • NP_001394874.1:p.Gln1348His
  • NP_001394875.1:p.Gln1284His
  • NP_001394876.1:p.Gln1284His
  • NP_001394877.1:p.Gln1284His
  • NP_001394878.1:p.Gln1284His
  • NP_001394879.1:p.Gln1284His
  • NP_001394880.1:p.Gln1284His
  • NP_001394881.1:p.Gln1284His
  • NP_001394882.1:p.Gln1284His
  • NP_001394883.1:p.Gln1283His
  • NP_001394884.1:p.Gln1283His
  • NP_001394885.1:p.Gln1283His
  • NP_001394886.1:p.Gln1284His
  • NP_001394887.1:p.Gln1283His
  • NP_001394888.1:p.Gln1268His
  • NP_001394889.1:p.Gln1268His
  • NP_001394891.1:p.Gln1267His
  • NP_001394892.1:p.Gln1268His
  • NP_001394893.1:p.Gln1347His
  • NP_001394894.1:p.Gln1227His
  • NP_001394895.1:p.Gln1099His
  • NP_001394896.1:p.Gln1099His
  • NP_001394897.1:p.Gln527His
  • NP_001394898.1:p.Gln527His
  • NP_001394899.1:p.Gln292His
  • NP_001394900.1:p.Gln292His
  • NP_001394901.1:p.Gln291His
  • NP_001394902.1:p.Gln292His
  • NP_001394903.1:p.Gln292His
  • NP_001394904.1:p.Gln292His
  • NP_001394905.1:p.Gln292His
  • NP_001394906.1:p.Gln292His
  • NP_001394907.1:p.Gln292His
  • NP_001394908.1:p.Gln292His
  • NP_001394909.1:p.Gln292His
  • NP_001394910.1:p.Gln292His
  • NP_001394911.1:p.Gln292His
  • NP_001394912.1:p.Gln292His
  • NP_001394913.1:p.Gln291His
  • NP_001394914.1:p.Gln291His
  • NP_001394915.1:p.Gln291His
  • NP_001394919.1:p.Gln292His
  • NP_001394920.1:p.Gln291His
  • NP_001394921.1:p.Gln291His
  • NP_001394922.1:p.Gln292His
  • NP_001395321.1:p.Gln291His
  • NP_001395325.1:p.Gln291His
  • NP_001395326.1:p.Gln291His
  • NP_001395327.1:p.Gln291His
  • NP_001395328.1:p.Gln291His
  • NP_001395329.1:p.Gln291His
  • NP_001395330.1:p.Gln291His
  • NP_001395331.1:p.Gln291His
  • NP_001395332.1:p.Gln292His
  • NP_001395333.1:p.Gln292His
  • NP_001395335.1:p.Gln290His
  • NP_001395336.1:p.Gln291His
  • NP_001395337.1:p.Gln289His
  • NP_001395338.1:p.Gln266His
  • NP_001395339.1:p.Gln245His
  • NP_001395340.1:p.Gln266His
  • NP_001395341.1:p.Gln266His
  • NP_001395342.1:p.Gln265His
  • NP_001395343.1:p.Gln266His
  • NP_001395344.1:p.Gln266His
  • NP_001395345.1:p.Gln265His
  • NP_001395347.1:p.Gln253His
  • NP_001395348.1:p.Gln253His
  • NP_001395349.1:p.Gln253His
  • NP_001395350.1:p.Gln252His
  • NP_001395351.1:p.Gln253His
  • NP_001395352.1:p.Gln253His
  • NP_001395353.1:p.Gln252His
  • NP_001395354.1:p.Gln251His
  • NP_001395355.1:p.Gln251His
  • NP_001395356.1:p.Gln251His
  • NP_001395357.1:p.Gln251His
  • NP_001395358.1:p.Gln251His
  • NP_001395359.1:p.Gln251His
  • NP_001395360.1:p.Gln252His
  • NP_001395361.1:p.Gln250His
  • NP_001395362.1:p.Gln250His
  • NP_001395363.1:p.Gln250His
  • NP_001395364.1:p.Gln250His
  • NP_001395365.1:p.Gln251His
  • NP_001395366.1:p.Gln251His
  • NP_001395367.1:p.Gln251His
  • NP_001395368.1:p.Gln251His
  • NP_001395369.1:p.Gln251His
  • NP_001395370.1:p.Gln251His
  • NP_001395371.1:p.Gln251His
  • NP_001395372.1:p.Gln251His
  • NP_001395373.1:p.Gln251His
  • NP_001395374.1:p.Gln250His
  • NP_001395375.1:p.Gln250His
  • NP_001395376.1:p.Gln250His
  • NP_001395377.1:p.Gln250His
  • NP_001395379.1:p.Gln250His
  • NP_001395380.1:p.Gln247His
  • NP_001395381.1:p.Gln245His
  • NP_001395382.1:p.Gln245His
  • NP_001395383.1:p.Gln245His
  • NP_001395384.1:p.Gln245His
  • NP_001395385.1:p.Gln245His
  • NP_001395386.1:p.Gln245His
  • NP_001395387.1:p.Gln245His
  • NP_001395388.1:p.Gln245His
  • NP_001395389.1:p.Gln245His
  • NP_001395390.1:p.Gln245His
  • NP_001395391.1:p.Gln244His
  • NP_001395392.1:p.Gln244His
  • NP_001395393.1:p.Gln244His
  • NP_001395394.1:p.Gln244His
  • NP_001395395.1:p.Gln245His
  • NP_001395396.1:p.Gln245His
  • NP_001395397.1:p.Gln244His
  • NP_001395398.1:p.Gln245His
  • NP_001395399.1:p.Gln244His
  • NP_001395401.1:p.Gln292His
  • NP_001395402.1:p.Gln291His
  • NP_001395403.1:p.Gln225His
  • NP_001395404.1:p.Gln224His
  • NP_001395405.1:p.Gln225His
  • NP_001395407.1:p.Gln222His
  • NP_001395408.1:p.Gln222His
  • NP_001395409.1:p.Gln222His
  • NP_001395410.1:p.Gln222His
  • NP_001395411.1:p.Gln222His
  • NP_001395412.1:p.Gln222His
  • NP_001395413.1:p.Gln222His
  • NP_001395414.1:p.Gln222His
  • NP_001395418.1:p.Gln222His
  • NP_001395419.1:p.Gln221His
  • NP_001395420.1:p.Gln221His
  • NP_001395421.1:p.Gln222His
  • NP_001395422.1:p.Gln221His
  • NP_001395423.1:p.Gln212His
  • NP_001395424.1:p.Gln211His
  • NP_001395425.1:p.Gln204His
  • NP_001395426.1:p.Gln204His
  • NP_001395427.1:p.Gln204His
  • NP_001395428.1:p.Gln204His
  • NP_001395429.1:p.Gln204His
  • NP_001395430.1:p.Gln204His
  • NP_001395431.1:p.Gln181His
  • NP_001395432.1:p.Gln203His
  • NP_001395433.1:p.Gln203His
  • NP_001395434.1:p.Gln203His
  • NP_001395435.1:p.Gln183His
  • NP_001395436.1:p.Gln183His
  • NP_001395437.1:p.Gln180His
  • NP_001395438.1:p.Gln180His
  • NP_001395439.1:p.Gln165His
  • NP_001395440.1:p.Gln164His
  • NP_001395441.1:p.Gln124His
  • NP_001395442.1:p.Gln222His
  • NP_001395443.1:p.Gln222His
  • NP_009225.1:p.Gln1395His
  • NP_009225.1:p.Gln1395His
  • NP_009228.2:p.Gln1348His
  • NP_009229.2:p.Gln292His
  • NP_009229.2:p.Gln292His
  • NP_009230.2:p.Gln292His
  • NP_009231.2:p.Gln1395His
  • NP_009235.2:p.Gln292His
  • LRG_292t1:c.4185G>C
  • LRG_292:g.127040G>C
  • LRG_292p1:p.Gln1395His
  • NC_000017.10:g.41242961C>G
  • NM_007294.3:c.4185G>C
  • NM_007298.3:c.876G>C
  • NR_027676.2:n.4362G>C
Protein change:
Q1099H
Links:
dbSNP: rs80356857
NCBI 1000 Genomes Browser:
rs80356857
Molecular consequence:
  • NM_001407571.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4176G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4176G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4104G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4104G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4104G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4104G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4107G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4182G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3984G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3981G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3981G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3975G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3972G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3918G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3918G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3918G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3918G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3918G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3804G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3804G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3804G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3297G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3297G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1581G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1581G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.795G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.798G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.795G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.759G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.759G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.759G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.756G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.759G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.759G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.756G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.756G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.741G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.732G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.732G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.732G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.732G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.732G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.735G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.732G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.873G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.675G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.672G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.675G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.663G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.663G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.663G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.636G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.633G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.612G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.612G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.612G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.612G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.612G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.612G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.609G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.609G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.609G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.549G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.549G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.495G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.492G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.372G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.666G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4044G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4185G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.876G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4362G>C - 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
SCV002146944Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 10, 2022) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

SCV004122467Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Oct 31, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, Seal S, Hamoudi R, van Rensburg EJ, Dunning AM, Love R, Evans G, Easton D, Clayton D, Stratton MR, Ponder BA.

Nat Genet. 1995 Dec;11(4):428-33.

PubMed [citation]
PMID:
7493024

BRCA1 mutations in southern England.

Eccles DM, Englefield P, Soulby MA, Campbell IG.

Br J Cancer. 1998 Jun;77(12):2199-203.

PubMed [citation]
PMID:
9649133
PMCID:
PMC2150412
See all PubMed Citations (10)

Details of each submission

From Invitae, SCV002146944.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the c.4185G nucleotide in the BRCA1 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 7493024, 9649133, 12759930, 23239986). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 232793). This missense change has been observed in individual(s) with breast cancer (PMID: 28993434). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1395 of the BRCA1 protein (p.Gln1395His). This variant also falls at the last nucleotide of exon 11, which is part of the consensus splice site for this exon.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004122467.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: BRCA1 c.4185G>C (p.Gln1395His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. In addition, this variant disrupts the last nucleotide of exon 11, and therefore can affect splicing. Several computational tools predict a significant impact on normal splicing: three predict the variant abolishes a 5' splicing donor site, and one predicts the variant weakens a 5' donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing and leads to exon 12 skipping (e.g., Leman_2018). The variant was absent in 242736 control chromosomes (gnomAD). To our knowledge, no occurrence of c.4185G>C in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome has been reported. One publication reports experimental evidence evaluating the impact of Q1395H on protein function and found that this missense variant displayed a moderate defect in homologous recombination activity (e.g., Foo_2021). However, the exact nucleotide change utilized for the mutant protein was not disclosed and therefore this study does not allow convincing conclusions about the variant effect. The following publications have been ascertained in the context of this evaluation (PMID: 34301763, 29750258, 28993434). Two submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. One submitter classified the variant as likely pathogenic, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Jun 2, 2024