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NM_007294.4(BRCA1):c.3016del (p.His1006fs) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001523807.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.3016del (p.His1006fs)]

NM_007294.4(BRCA1):c.3016del (p.His1006fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3016del (p.His1006fs)
HGVS:
  • NC_000017.11:g.43092515del
  • NG_005905.2:g.125469del
  • NM_001407571.1:c.2803del
  • NM_001407581.1:c.3016del
  • NM_001407582.1:c.3016del
  • NM_001407583.1:c.3016del
  • NM_001407585.1:c.3016del
  • NM_001407587.1:c.3013del
  • NM_001407590.1:c.3013del
  • NM_001407591.1:c.3013del
  • NM_001407593.1:c.3016del
  • NM_001407594.1:c.3016del
  • NM_001407596.1:c.3016del
  • NM_001407597.1:c.3016del
  • NM_001407598.1:c.3016del
  • NM_001407602.1:c.3016del
  • NM_001407603.1:c.3016del
  • NM_001407605.1:c.3016del
  • NM_001407610.1:c.3013del
  • NM_001407611.1:c.3013del
  • NM_001407612.1:c.3013del
  • NM_001407613.1:c.3013del
  • NM_001407614.1:c.3013del
  • NM_001407615.1:c.3013del
  • NM_001407616.1:c.3016del
  • NM_001407617.1:c.3016del
  • NM_001407618.1:c.3016del
  • NM_001407619.1:c.3016del
  • NM_001407620.1:c.3016del
  • NM_001407621.1:c.3016del
  • NM_001407622.1:c.3016del
  • NM_001407623.1:c.3016del
  • NM_001407624.1:c.3016del
  • NM_001407625.1:c.3016del
  • NM_001407626.1:c.3016del
  • NM_001407627.1:c.3013del
  • NM_001407628.1:c.3013del
  • NM_001407629.1:c.3013del
  • NM_001407630.1:c.3013del
  • NM_001407631.1:c.3013del
  • NM_001407632.1:c.3013del
  • NM_001407633.1:c.3013del
  • NM_001407634.1:c.3013del
  • NM_001407635.1:c.3013del
  • NM_001407636.1:c.3013del
  • NM_001407637.1:c.3013del
  • NM_001407638.1:c.3013del
  • NM_001407639.1:c.3016del
  • NM_001407640.1:c.3016del
  • NM_001407641.1:c.3016del
  • NM_001407642.1:c.3016del
  • NM_001407644.1:c.3013del
  • NM_001407645.1:c.3013del
  • NM_001407646.1:c.3007del
  • NM_001407647.1:c.3007del
  • NM_001407648.1:c.2893del
  • NM_001407649.1:c.2890del
  • NM_001407652.1:c.3016del
  • NM_001407653.1:c.2938del
  • NM_001407654.1:c.2938del
  • NM_001407655.1:c.2938del
  • NM_001407656.1:c.2938del
  • NM_001407657.1:c.2938del
  • NM_001407658.1:c.2938del
  • NM_001407659.1:c.2935del
  • NM_001407660.1:c.2935del
  • NM_001407661.1:c.2935del
  • NM_001407662.1:c.2935del
  • NM_001407663.1:c.2938del
  • NM_001407664.1:c.2893del
  • NM_001407665.1:c.2893del
  • NM_001407666.1:c.2893del
  • NM_001407667.1:c.2893del
  • NM_001407668.1:c.2893del
  • NM_001407669.1:c.2893del
  • NM_001407670.1:c.2890del
  • NM_001407671.1:c.2890del
  • NM_001407672.1:c.2890del
  • NM_001407673.1:c.2890del
  • NM_001407674.1:c.2893del
  • NM_001407675.1:c.2893del
  • NM_001407676.1:c.2893del
  • NM_001407677.1:c.2893del
  • NM_001407678.1:c.2893del
  • NM_001407679.1:c.2893del
  • NM_001407680.1:c.2893del
  • NM_001407681.1:c.2893del
  • NM_001407682.1:c.2893del
  • NM_001407683.1:c.2893del
  • NM_001407684.1:c.3016del
  • NM_001407685.1:c.2890del
  • NM_001407686.1:c.2890del
  • NM_001407687.1:c.2890del
  • NM_001407688.1:c.2890del
  • NM_001407689.1:c.2890del
  • NM_001407690.1:c.2890del
  • NM_001407691.1:c.2890del
  • NM_001407692.1:c.2875del
  • NM_001407694.1:c.2875del
  • NM_001407695.1:c.2875del
  • NM_001407696.1:c.2875del
  • NM_001407697.1:c.2875del
  • NM_001407698.1:c.2875del
  • NM_001407724.1:c.2875del
  • NM_001407725.1:c.2875del
  • NM_001407726.1:c.2875del
  • NM_001407727.1:c.2875del
  • NM_001407728.1:c.2875del
  • NM_001407729.1:c.2875del
  • NM_001407730.1:c.2875del
  • NM_001407731.1:c.2875del
  • NM_001407732.1:c.2875del
  • NM_001407733.1:c.2875del
  • NM_001407734.1:c.2875del
  • NM_001407735.1:c.2875del
  • NM_001407736.1:c.2875del
  • NM_001407737.1:c.2875del
  • NM_001407738.1:c.2875del
  • NM_001407739.1:c.2875del
  • NM_001407740.1:c.2872del
  • NM_001407741.1:c.2872del
  • NM_001407742.1:c.2872del
  • NM_001407743.1:c.2872del
  • NM_001407744.1:c.2872del
  • NM_001407745.1:c.2872del
  • NM_001407746.1:c.2872del
  • NM_001407747.1:c.2872del
  • NM_001407748.1:c.2872del
  • NM_001407749.1:c.2872del
  • NM_001407750.1:c.2875del
  • NM_001407751.1:c.2875del
  • NM_001407752.1:c.2875del
  • NM_001407838.1:c.2872del
  • NM_001407839.1:c.2872del
  • NM_001407841.1:c.2872del
  • NM_001407842.1:c.2872del
  • NM_001407843.1:c.2872del
  • NM_001407844.1:c.2872del
  • NM_001407845.1:c.2872del
  • NM_001407846.1:c.2872del
  • NM_001407847.1:c.2872del
  • NM_001407848.1:c.2872del
  • NM_001407849.1:c.2872del
  • NM_001407850.1:c.2875del
  • NM_001407851.1:c.2875del
  • NM_001407852.1:c.2875del
  • NM_001407853.1:c.2803del
  • NM_001407854.1:c.3016del
  • NM_001407858.1:c.3016del
  • NM_001407859.1:c.3016del
  • NM_001407860.1:c.3013del
  • NM_001407861.1:c.3013del
  • NM_001407862.1:c.2815del
  • NM_001407863.1:c.2893del
  • NM_001407874.1:c.2812del
  • NM_001407875.1:c.2812del
  • NM_001407879.1:c.2806del
  • NM_001407881.1:c.2806del
  • NM_001407882.1:c.2806del
  • NM_001407884.1:c.2806del
  • NM_001407885.1:c.2806del
  • NM_001407886.1:c.2806del
  • NM_001407887.1:c.2806del
  • NM_001407889.1:c.2806del
  • NM_001407894.1:c.2803del
  • NM_001407895.1:c.2803del
  • NM_001407896.1:c.2803del
  • NM_001407897.1:c.2803del
  • NM_001407898.1:c.2803del
  • NM_001407899.1:c.2803del
  • NM_001407900.1:c.2806del
  • NM_001407902.1:c.2806del
  • NM_001407904.1:c.2806del
  • NM_001407906.1:c.2806del
  • NM_001407907.1:c.2806del
  • NM_001407908.1:c.2806del
  • NM_001407909.1:c.2806del
  • NM_001407910.1:c.2806del
  • NM_001407915.1:c.2803del
  • NM_001407916.1:c.2803del
  • NM_001407917.1:c.2803del
  • NM_001407918.1:c.2803del
  • NM_001407919.1:c.2893del
  • NM_001407920.1:c.2752del
  • NM_001407921.1:c.2752del
  • NM_001407922.1:c.2752del
  • NM_001407923.1:c.2752del
  • NM_001407924.1:c.2752del
  • NM_001407925.1:c.2752del
  • NM_001407926.1:c.2752del
  • NM_001407927.1:c.2752del
  • NM_001407928.1:c.2752del
  • NM_001407929.1:c.2752del
  • NM_001407930.1:c.2749del
  • NM_001407931.1:c.2749del
  • NM_001407932.1:c.2749del
  • NM_001407933.1:c.2752del
  • NM_001407934.1:c.2749del
  • NM_001407935.1:c.2752del
  • NM_001407936.1:c.2749del
  • NM_001407937.1:c.2893del
  • NM_001407938.1:c.2893del
  • NM_001407939.1:c.2893del
  • NM_001407940.1:c.2890del
  • NM_001407941.1:c.2890del
  • NM_001407942.1:c.2875del
  • NM_001407943.1:c.2872del
  • NM_001407944.1:c.2875del
  • NM_001407945.1:c.2875del
  • NM_001407946.1:c.2683del
  • NM_001407947.1:c.2683del
  • NM_001407948.1:c.2683del
  • NM_001407949.1:c.2683del
  • NM_001407950.1:c.2683del
  • NM_001407951.1:c.2683del
  • NM_001407952.1:c.2683del
  • NM_001407953.1:c.2683del
  • NM_001407954.1:c.2680del
  • NM_001407955.1:c.2680del
  • NM_001407956.1:c.2680del
  • NM_001407957.1:c.2683del
  • NM_001407958.1:c.2680del
  • NM_001407959.1:c.2635del
  • NM_001407960.1:c.2635del
  • NM_001407962.1:c.2632del
  • NM_001407963.1:c.2635del
  • NM_001407964.1:c.2872del
  • NM_001407965.1:c.2512del
  • NM_001407966.1:c.2128del
  • NM_001407967.1:c.2128del
  • NM_001407968.1:c.788-376del
  • NM_001407969.1:c.788-376del
  • NM_001407970.1:c.788-1483del
  • NM_001407971.1:c.788-1483del
  • NM_001407972.1:c.785-1483del
  • NM_001407973.1:c.788-1483del
  • NM_001407974.1:c.788-1483del
  • NM_001407975.1:c.788-1483del
  • NM_001407976.1:c.788-1483del
  • NM_001407977.1:c.788-1483del
  • NM_001407978.1:c.788-1483del
  • NM_001407979.1:c.788-1483del
  • NM_001407980.1:c.788-1483del
  • NM_001407981.1:c.788-1483del
  • NM_001407982.1:c.788-1483del
  • NM_001407983.1:c.788-1483del
  • NM_001407984.1:c.785-1483del
  • NM_001407985.1:c.785-1483del
  • NM_001407986.1:c.785-1483del
  • NM_001407990.1:c.788-1483del
  • NM_001407991.1:c.785-1483del
  • NM_001407992.1:c.785-1483del
  • NM_001407993.1:c.788-1483del
  • NM_001408392.1:c.785-1483del
  • NM_001408396.1:c.785-1483del
  • NM_001408397.1:c.785-1483del
  • NM_001408398.1:c.785-1483del
  • NM_001408399.1:c.785-1483del
  • NM_001408400.1:c.785-1483del
  • NM_001408401.1:c.785-1483del
  • NM_001408402.1:c.785-1483del
  • NM_001408403.1:c.788-1483del
  • NM_001408404.1:c.788-1483del
  • NM_001408406.1:c.791-1492del
  • NM_001408407.1:c.785-1483del
  • NM_001408408.1:c.779-1483del
  • NM_001408409.1:c.710-1483del
  • NM_001408410.1:c.647-1483del
  • NM_001408411.1:c.710-1483del
  • NM_001408412.1:c.710-1483del
  • NM_001408413.1:c.707-1483del
  • NM_001408414.1:c.710-1483del
  • NM_001408415.1:c.710-1483del
  • NM_001408416.1:c.707-1483del
  • NM_001408418.1:c.671-1483del
  • NM_001408419.1:c.671-1483del
  • NM_001408420.1:c.671-1483del
  • NM_001408421.1:c.668-1483del
  • NM_001408422.1:c.671-1483del
  • NM_001408423.1:c.671-1483del
  • NM_001408424.1:c.668-1483del
  • NM_001408425.1:c.665-1483del
  • NM_001408426.1:c.665-1483del
  • NM_001408427.1:c.665-1483del
  • NM_001408428.1:c.665-1483del
  • NM_001408429.1:c.665-1483del
  • NM_001408430.1:c.665-1483del
  • NM_001408431.1:c.668-1483del
  • NM_001408432.1:c.662-1483del
  • NM_001408433.1:c.662-1483del
  • NM_001408434.1:c.662-1483del
  • NM_001408435.1:c.662-1483del
  • NM_001408436.1:c.665-1483del
  • NM_001408437.1:c.665-1483del
  • NM_001408438.1:c.665-1483del
  • NM_001408439.1:c.665-1483del
  • NM_001408440.1:c.665-1483del
  • NM_001408441.1:c.665-1483del
  • NM_001408442.1:c.665-1483del
  • NM_001408443.1:c.665-1483del
  • NM_001408444.1:c.665-1483del
  • NM_001408445.1:c.662-1483del
  • NM_001408446.1:c.662-1483del
  • NM_001408447.1:c.662-1483del
  • NM_001408448.1:c.662-1483del
  • NM_001408450.1:c.662-1483del
  • NM_001408451.1:c.653-1483del
  • NM_001408452.1:c.647-1483del
  • NM_001408453.1:c.647-1483del
  • NM_001408454.1:c.647-1483del
  • NM_001408455.1:c.647-1483del
  • NM_001408456.1:c.647-1483del
  • NM_001408457.1:c.647-1483del
  • NM_001408458.1:c.647-1483del
  • NM_001408459.1:c.647-1483del
  • NM_001408460.1:c.647-1483del
  • NM_001408461.1:c.647-1483del
  • NM_001408462.1:c.644-1483del
  • NM_001408463.1:c.644-1483del
  • NM_001408464.1:c.644-1483del
  • NM_001408465.1:c.644-1483del
  • NM_001408466.1:c.647-1483del
  • NM_001408467.1:c.647-1483del
  • NM_001408468.1:c.644-1483del
  • NM_001408469.1:c.647-1483del
  • NM_001408470.1:c.644-1483del
  • NM_001408472.1:c.788-1483del
  • NM_001408473.1:c.785-1483del
  • NM_001408474.1:c.587-1483del
  • NM_001408475.1:c.584-1483del
  • NM_001408476.1:c.587-1483del
  • NM_001408478.1:c.578-1483del
  • NM_001408479.1:c.578-1483del
  • NM_001408480.1:c.578-1483del
  • NM_001408481.1:c.578-1483del
  • NM_001408482.1:c.578-1483del
  • NM_001408483.1:c.578-1483del
  • NM_001408484.1:c.578-1483del
  • NM_001408485.1:c.578-1483del
  • NM_001408489.1:c.578-1483del
  • NM_001408490.1:c.575-1483del
  • NM_001408491.1:c.575-1483del
  • NM_001408492.1:c.578-1483del
  • NM_001408493.1:c.575-1483del
  • NM_001408494.1:c.548-1483del
  • NM_001408495.1:c.545-1483del
  • NM_001408496.1:c.524-1483del
  • NM_001408497.1:c.524-1483del
  • NM_001408498.1:c.524-1483del
  • NM_001408499.1:c.524-1483del
  • NM_001408500.1:c.524-1483del
  • NM_001408501.1:c.524-1483del
  • NM_001408502.1:c.455-1483del
  • NM_001408503.1:c.521-1483del
  • NM_001408504.1:c.521-1483del
  • NM_001408505.1:c.521-1483del
  • NM_001408506.1:c.461-1483del
  • NM_001408507.1:c.461-1483del
  • NM_001408508.1:c.452-1483del
  • NM_001408509.1:c.452-1483del
  • NM_001408510.1:c.407-1483del
  • NM_001408511.1:c.404-1483del
  • NM_001408512.1:c.284-1483del
  • NM_001408513.1:c.578-1483del
  • NM_001408514.1:c.578-1483del
  • NM_007294.4:c.3016delMANE SELECT
  • NM_007297.4:c.2875del
  • NM_007298.4:c.788-1483del
  • NM_007299.4:c.788-1483del
  • NM_007300.4:c.3016del
  • NP_001394500.1:p.His935fs
  • NP_001394510.1:p.His1006fs
  • NP_001394511.1:p.His1006fs
  • NP_001394512.1:p.His1006fs
  • NP_001394514.1:p.His1006fs
  • NP_001394516.1:p.His1005fs
  • NP_001394519.1:p.His1005fs
  • NP_001394520.1:p.His1005fs
  • NP_001394522.1:p.His1006fs
  • NP_001394523.1:p.His1006fs
  • NP_001394525.1:p.His1006fs
  • NP_001394526.1:p.His1006fs
  • NP_001394527.1:p.His1006fs
  • NP_001394531.1:p.His1006fs
  • NP_001394532.1:p.His1006fs
  • NP_001394534.1:p.His1006fs
  • NP_001394539.1:p.His1005fs
  • NP_001394540.1:p.His1005fs
  • NP_001394541.1:p.His1005fs
  • NP_001394542.1:p.His1005fs
  • NP_001394543.1:p.His1005fs
  • NP_001394544.1:p.His1005fs
  • NP_001394545.1:p.His1006fs
  • NP_001394546.1:p.His1006fs
  • NP_001394547.1:p.His1006fs
  • NP_001394548.1:p.His1006fs
  • NP_001394549.1:p.His1006fs
  • NP_001394550.1:p.His1006fs
  • NP_001394551.1:p.His1006fs
  • NP_001394552.1:p.His1006fs
  • NP_001394553.1:p.His1006fs
  • NP_001394554.1:p.His1006fs
  • NP_001394555.1:p.His1006fs
  • NP_001394556.1:p.His1005fs
  • NP_001394557.1:p.His1005fs
  • NP_001394558.1:p.His1005fs
  • NP_001394559.1:p.His1005fs
  • NP_001394560.1:p.His1005fs
  • NP_001394561.1:p.His1005fs
  • NP_001394562.1:p.His1005fs
  • NP_001394563.1:p.His1005fs
  • NP_001394564.1:p.His1005fs
  • NP_001394565.1:p.His1005fs
  • NP_001394566.1:p.His1005fs
  • NP_001394567.1:p.His1005fs
  • NP_001394568.1:p.His1006fs
  • NP_001394569.1:p.His1006fs
  • NP_001394570.1:p.His1006fs
  • NP_001394571.1:p.His1006fs
  • NP_001394573.1:p.His1005fs
  • NP_001394574.1:p.His1005fs
  • NP_001394575.1:p.His1003fs
  • NP_001394576.1:p.His1003fs
  • NP_001394577.1:p.His965fs
  • NP_001394578.1:p.His964fs
  • NP_001394581.1:p.His1006fs
  • NP_001394582.1:p.His980fs
  • NP_001394583.1:p.His980fs
  • NP_001394584.1:p.His980fs
  • NP_001394585.1:p.His980fs
  • NP_001394586.1:p.His980fs
  • NP_001394587.1:p.His980fs
  • NP_001394588.1:p.His979fs
  • NP_001394589.1:p.His979fs
  • NP_001394590.1:p.His979fs
  • NP_001394591.1:p.His979fs
  • NP_001394592.1:p.His980fs
  • NP_001394593.1:p.His965fs
  • NP_001394594.1:p.His965fs
  • NP_001394595.1:p.His965fs
  • NP_001394596.1:p.His965fs
  • NP_001394597.1:p.His965fs
  • NP_001394598.1:p.His965fs
  • NP_001394599.1:p.His964fs
  • NP_001394600.1:p.His964fs
  • NP_001394601.1:p.His964fs
  • NP_001394602.1:p.His964fs
  • NP_001394603.1:p.His965fs
  • NP_001394604.1:p.His965fs
  • NP_001394605.1:p.His965fs
  • NP_001394606.1:p.His965fs
  • NP_001394607.1:p.His965fs
  • NP_001394608.1:p.His965fs
  • NP_001394609.1:p.His965fs
  • NP_001394610.1:p.His965fs
  • NP_001394611.1:p.His965fs
  • NP_001394612.1:p.His965fs
  • NP_001394613.1:p.His1006fs
  • NP_001394614.1:p.His964fs
  • NP_001394615.1:p.His964fs
  • NP_001394616.1:p.His964fs
  • NP_001394617.1:p.His964fs
  • NP_001394618.1:p.His964fs
  • NP_001394619.1:p.His964fs
  • NP_001394620.1:p.His964fs
  • NP_001394621.1:p.His959fs
  • NP_001394623.1:p.His959fs
  • NP_001394624.1:p.His959fs
  • NP_001394625.1:p.His959fs
  • NP_001394626.1:p.His959fs
  • NP_001394627.1:p.His959fs
  • NP_001394653.1:p.His959fs
  • NP_001394654.1:p.His959fs
  • NP_001394655.1:p.His959fs
  • NP_001394656.1:p.His959fs
  • NP_001394657.1:p.His959fs
  • NP_001394658.1:p.His959fs
  • NP_001394659.1:p.His959fs
  • NP_001394660.1:p.His959fs
  • NP_001394661.1:p.His959fs
  • NP_001394662.1:p.His959fs
  • NP_001394663.1:p.His959fs
  • NP_001394664.1:p.His959fs
  • NP_001394665.1:p.His959fs
  • NP_001394666.1:p.His959fs
  • NP_001394667.1:p.His959fs
  • NP_001394668.1:p.His959fs
  • NP_001394669.1:p.His958fs
  • NP_001394670.1:p.His958fs
  • NP_001394671.1:p.His958fs
  • NP_001394672.1:p.His958fs
  • NP_001394673.1:p.His958fs
  • NP_001394674.1:p.His958fs
  • NP_001394675.1:p.His958fs
  • NP_001394676.1:p.His958fs
  • NP_001394677.1:p.His958fs
  • NP_001394678.1:p.His958fs
  • NP_001394679.1:p.His959fs
  • NP_001394680.1:p.His959fs
  • NP_001394681.1:p.His959fs
  • NP_001394767.1:p.His958fs
  • NP_001394768.1:p.His958fs
  • NP_001394770.1:p.His958fs
  • NP_001394771.1:p.His958fs
  • NP_001394772.1:p.His958fs
  • NP_001394773.1:p.His958fs
  • NP_001394774.1:p.His958fs
  • NP_001394775.1:p.His958fs
  • NP_001394776.1:p.His958fs
  • NP_001394777.1:p.His958fs
  • NP_001394778.1:p.His958fs
  • NP_001394779.1:p.His959fs
  • NP_001394780.1:p.His959fs
  • NP_001394781.1:p.His959fs
  • NP_001394782.1:p.His935fs
  • NP_001394783.1:p.His1006fs
  • NP_001394787.1:p.His1006fs
  • NP_001394788.1:p.His1006fs
  • NP_001394789.1:p.His1005fs
  • NP_001394790.1:p.His1005fs
  • NP_001394791.1:p.His939fs
  • NP_001394792.1:p.His965fs
  • NP_001394803.1:p.His938fs
  • NP_001394804.1:p.His938fs
  • NP_001394808.1:p.His936fs
  • NP_001394810.1:p.His936fs
  • NP_001394811.1:p.His936fs
  • NP_001394813.1:p.His936fs
  • NP_001394814.1:p.His936fs
  • NP_001394815.1:p.His936fs
  • NP_001394816.1:p.His936fs
  • NP_001394818.1:p.His936fs
  • NP_001394823.1:p.His935fs
  • NP_001394824.1:p.His935fs
  • NP_001394825.1:p.His935fs
  • NP_001394826.1:p.His935fs
  • NP_001394827.1:p.His935fs
  • NP_001394828.1:p.His935fs
  • NP_001394829.1:p.His936fs
  • NP_001394831.1:p.His936fs
  • NP_001394833.1:p.His936fs
  • NP_001394835.1:p.His936fs
  • NP_001394836.1:p.His936fs
  • NP_001394837.1:p.His936fs
  • NP_001394838.1:p.His936fs
  • NP_001394839.1:p.His936fs
  • NP_001394844.1:p.His935fs
  • NP_001394845.1:p.His935fs
  • NP_001394846.1:p.His935fs
  • NP_001394847.1:p.His935fs
  • NP_001394848.1:p.His965fs
  • NP_001394849.1:p.His918fs
  • NP_001394850.1:p.His918fs
  • NP_001394851.1:p.His918fs
  • NP_001394852.1:p.His918fs
  • NP_001394853.1:p.His918fs
  • NP_001394854.1:p.His918fs
  • NP_001394855.1:p.His918fs
  • NP_001394856.1:p.His918fs
  • NP_001394857.1:p.His918fs
  • NP_001394858.1:p.His918fs
  • NP_001394859.1:p.His917fs
  • NP_001394860.1:p.His917fs
  • NP_001394861.1:p.His917fs
  • NP_001394862.1:p.His918fs
  • NP_001394863.1:p.His917fs
  • NP_001394864.1:p.His918fs
  • NP_001394865.1:p.His917fs
  • NP_001394866.1:p.His965fs
  • NP_001394867.1:p.His965fs
  • NP_001394868.1:p.His965fs
  • NP_001394869.1:p.His964fs
  • NP_001394870.1:p.His964fs
  • NP_001394871.1:p.His959fs
  • NP_001394872.1:p.His958fs
  • NP_001394873.1:p.His959fs
  • NP_001394874.1:p.His959fs
  • NP_001394875.1:p.His895fs
  • NP_001394876.1:p.His895fs
  • NP_001394877.1:p.His895fs
  • NP_001394878.1:p.His895fs
  • NP_001394879.1:p.His895fs
  • NP_001394880.1:p.His895fs
  • NP_001394881.1:p.His895fs
  • NP_001394882.1:p.His895fs
  • NP_001394883.1:p.His894fs
  • NP_001394884.1:p.His894fs
  • NP_001394885.1:p.His894fs
  • NP_001394886.1:p.His895fs
  • NP_001394887.1:p.His894fs
  • NP_001394888.1:p.His879fs
  • NP_001394889.1:p.His879fs
  • NP_001394891.1:p.His878fs
  • NP_001394892.1:p.His879fs
  • NP_001394893.1:p.His958fs
  • NP_001394894.1:p.His838fs
  • NP_001394895.1:p.His710fs
  • NP_001394896.1:p.His710fs
  • NP_009225.1:p.His1006Ilefs
  • NP_009225.1:p.His1006fs
  • NP_009228.2:p.His959fs
  • NP_009231.2:p.His1006fs
  • LRG_292t1:c.3016del
  • LRG_292:g.125469del
  • LRG_292p1:p.His1006Ilefs
  • NC_000017.10:g.41244532del
  • NM_007294.3:c.3016delC
  • NM_007294.4:c.3016delCMANE SELECT
  • NR_027676.1:n.3152delC
Protein change:
H1003fs
Links:
dbSNP: rs2154347100
NCBI 1000 Genomes Browser:
rs2154347100
Molecular consequence:
  • NM_001407571.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3007del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3007del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3013del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2815del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2812del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2812del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2749del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2749del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2749del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2749del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2749del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2890del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2680del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2680del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2680del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2680del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2635del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2635del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2632del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2635del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2512del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-376del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-376del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1492del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1483del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001478109Department of Pediatrics, Memorial Sloan Kettering Cancer Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 15, 2020) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, et al.

JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137. Erratum in: JAMA. 2018 Dec 11;320(22):2381. doi: 10.1001/jama.2018.17511.

PubMed [citation]
PMID:
28873162
PMCID:
PMC5611881

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Pediatrics, Memorial Sloan Kettering Cancer Center, SCV001478109.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024