U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.2990del (p.Asn997fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 18, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000256846.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.2990del (p.Asn997fs)]

NM_007294.4(BRCA1):c.2990del (p.Asn997fs)

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.2990del (p.Asn997fs)
Other names:
3109delA
HGVS:
  • NC_000017.11:g.43092545del
  • NG_005905.2:g.125443del
  • NM_001407571.1:c.2777del
  • NM_001407581.1:c.2990del
  • NM_001407582.1:c.2990del
  • NM_001407583.1:c.2990del
  • NM_001407585.1:c.2990del
  • NM_001407587.1:c.2987del
  • NM_001407590.1:c.2987del
  • NM_001407591.1:c.2987del
  • NM_001407593.1:c.2990del
  • NM_001407594.1:c.2990del
  • NM_001407596.1:c.2990del
  • NM_001407597.1:c.2990del
  • NM_001407598.1:c.2990del
  • NM_001407602.1:c.2990del
  • NM_001407603.1:c.2990del
  • NM_001407605.1:c.2990del
  • NM_001407610.1:c.2987del
  • NM_001407611.1:c.2987del
  • NM_001407612.1:c.2987del
  • NM_001407613.1:c.2987del
  • NM_001407614.1:c.2987del
  • NM_001407615.1:c.2987del
  • NM_001407616.1:c.2990del
  • NM_001407617.1:c.2990del
  • NM_001407618.1:c.2990del
  • NM_001407619.1:c.2990del
  • NM_001407620.1:c.2990del
  • NM_001407621.1:c.2990del
  • NM_001407622.1:c.2990del
  • NM_001407623.1:c.2990del
  • NM_001407624.1:c.2990del
  • NM_001407625.1:c.2990del
  • NM_001407626.1:c.2990del
  • NM_001407627.1:c.2987del
  • NM_001407628.1:c.2987del
  • NM_001407629.1:c.2987del
  • NM_001407630.1:c.2987del
  • NM_001407631.1:c.2987del
  • NM_001407632.1:c.2987del
  • NM_001407633.1:c.2987del
  • NM_001407634.1:c.2987del
  • NM_001407635.1:c.2987del
  • NM_001407636.1:c.2987del
  • NM_001407637.1:c.2987del
  • NM_001407638.1:c.2987del
  • NM_001407639.1:c.2990del
  • NM_001407640.1:c.2990del
  • NM_001407641.1:c.2990del
  • NM_001407642.1:c.2990del
  • NM_001407644.1:c.2987del
  • NM_001407645.1:c.2987del
  • NM_001407646.1:c.2981del
  • NM_001407647.1:c.2981del
  • NM_001407648.1:c.2867del
  • NM_001407649.1:c.2864del
  • NM_001407652.1:c.2990del
  • NM_001407653.1:c.2912del
  • NM_001407654.1:c.2912del
  • NM_001407655.1:c.2912del
  • NM_001407656.1:c.2912del
  • NM_001407657.1:c.2912del
  • NM_001407658.1:c.2912del
  • NM_001407659.1:c.2909del
  • NM_001407660.1:c.2909del
  • NM_001407661.1:c.2909del
  • NM_001407662.1:c.2909del
  • NM_001407663.1:c.2912del
  • NM_001407664.1:c.2867del
  • NM_001407665.1:c.2867del
  • NM_001407666.1:c.2867del
  • NM_001407667.1:c.2867del
  • NM_001407668.1:c.2867del
  • NM_001407669.1:c.2867del
  • NM_001407670.1:c.2864del
  • NM_001407671.1:c.2864del
  • NM_001407672.1:c.2864del
  • NM_001407673.1:c.2864del
  • NM_001407674.1:c.2867del
  • NM_001407675.1:c.2867del
  • NM_001407676.1:c.2867del
  • NM_001407677.1:c.2867del
  • NM_001407678.1:c.2867del
  • NM_001407679.1:c.2867del
  • NM_001407680.1:c.2867del
  • NM_001407681.1:c.2867del
  • NM_001407682.1:c.2867del
  • NM_001407683.1:c.2867del
  • NM_001407684.1:c.2990del
  • NM_001407685.1:c.2864del
  • NM_001407686.1:c.2864del
  • NM_001407687.1:c.2864del
  • NM_001407688.1:c.2864del
  • NM_001407689.1:c.2864del
  • NM_001407690.1:c.2864del
  • NM_001407691.1:c.2864del
  • NM_001407692.1:c.2849del
  • NM_001407694.1:c.2849del
  • NM_001407695.1:c.2849del
  • NM_001407696.1:c.2849del
  • NM_001407697.1:c.2849del
  • NM_001407698.1:c.2849del
  • NM_001407724.1:c.2849del
  • NM_001407725.1:c.2849del
  • NM_001407726.1:c.2849del
  • NM_001407727.1:c.2849del
  • NM_001407728.1:c.2849del
  • NM_001407729.1:c.2849del
  • NM_001407730.1:c.2849del
  • NM_001407731.1:c.2849del
  • NM_001407732.1:c.2849del
  • NM_001407733.1:c.2849del
  • NM_001407734.1:c.2849del
  • NM_001407735.1:c.2849del
  • NM_001407736.1:c.2849del
  • NM_001407737.1:c.2849del
  • NM_001407738.1:c.2849del
  • NM_001407739.1:c.2849del
  • NM_001407740.1:c.2846del
  • NM_001407741.1:c.2846del
  • NM_001407742.1:c.2846del
  • NM_001407743.1:c.2846del
  • NM_001407744.1:c.2846del
  • NM_001407745.1:c.2846del
  • NM_001407746.1:c.2846del
  • NM_001407747.1:c.2846del
  • NM_001407748.1:c.2846del
  • NM_001407749.1:c.2846del
  • NM_001407750.1:c.2849del
  • NM_001407751.1:c.2849del
  • NM_001407752.1:c.2849del
  • NM_001407838.1:c.2846del
  • NM_001407839.1:c.2846del
  • NM_001407841.1:c.2846del
  • NM_001407842.1:c.2846del
  • NM_001407843.1:c.2846del
  • NM_001407844.1:c.2846del
  • NM_001407845.1:c.2846del
  • NM_001407846.1:c.2846del
  • NM_001407847.1:c.2846del
  • NM_001407848.1:c.2846del
  • NM_001407849.1:c.2846del
  • NM_001407850.1:c.2849del
  • NM_001407851.1:c.2849del
  • NM_001407852.1:c.2849del
  • NM_001407853.1:c.2777del
  • NM_001407854.1:c.2990del
  • NM_001407858.1:c.2990del
  • NM_001407859.1:c.2990del
  • NM_001407860.1:c.2987del
  • NM_001407861.1:c.2987del
  • NM_001407862.1:c.2789del
  • NM_001407863.1:c.2867del
  • NM_001407874.1:c.2786del
  • NM_001407875.1:c.2786del
  • NM_001407879.1:c.2780del
  • NM_001407881.1:c.2780del
  • NM_001407882.1:c.2780del
  • NM_001407884.1:c.2780del
  • NM_001407885.1:c.2780del
  • NM_001407886.1:c.2780del
  • NM_001407887.1:c.2780del
  • NM_001407889.1:c.2780del
  • NM_001407894.1:c.2777del
  • NM_001407895.1:c.2777del
  • NM_001407896.1:c.2777del
  • NM_001407897.1:c.2777del
  • NM_001407898.1:c.2777del
  • NM_001407899.1:c.2777del
  • NM_001407900.1:c.2780del
  • NM_001407902.1:c.2780del
  • NM_001407904.1:c.2780del
  • NM_001407906.1:c.2780del
  • NM_001407907.1:c.2780del
  • NM_001407908.1:c.2780del
  • NM_001407909.1:c.2780del
  • NM_001407910.1:c.2780del
  • NM_001407915.1:c.2777del
  • NM_001407916.1:c.2777del
  • NM_001407917.1:c.2777del
  • NM_001407918.1:c.2777del
  • NM_001407919.1:c.2867del
  • NM_001407920.1:c.2726del
  • NM_001407921.1:c.2726del
  • NM_001407922.1:c.2726del
  • NM_001407923.1:c.2726del
  • NM_001407924.1:c.2726del
  • NM_001407925.1:c.2726del
  • NM_001407926.1:c.2726del
  • NM_001407927.1:c.2726del
  • NM_001407928.1:c.2726del
  • NM_001407929.1:c.2726del
  • NM_001407930.1:c.2723del
  • NM_001407931.1:c.2723del
  • NM_001407932.1:c.2723del
  • NM_001407933.1:c.2726del
  • NM_001407934.1:c.2723del
  • NM_001407935.1:c.2726del
  • NM_001407936.1:c.2723del
  • NM_001407937.1:c.2867del
  • NM_001407938.1:c.2867del
  • NM_001407939.1:c.2867del
  • NM_001407940.1:c.2864del
  • NM_001407941.1:c.2864del
  • NM_001407942.1:c.2849del
  • NM_001407943.1:c.2846del
  • NM_001407944.1:c.2849del
  • NM_001407945.1:c.2849del
  • NM_001407946.1:c.2657del
  • NM_001407947.1:c.2657del
  • NM_001407948.1:c.2657del
  • NM_001407949.1:c.2657del
  • NM_001407950.1:c.2657del
  • NM_001407951.1:c.2657del
  • NM_001407952.1:c.2657del
  • NM_001407953.1:c.2657del
  • NM_001407954.1:c.2654del
  • NM_001407955.1:c.2654del
  • NM_001407956.1:c.2654del
  • NM_001407957.1:c.2657del
  • NM_001407958.1:c.2654del
  • NM_001407959.1:c.2609del
  • NM_001407960.1:c.2609del
  • NM_001407962.1:c.2606del
  • NM_001407963.1:c.2609del
  • NM_001407964.1:c.2846del
  • NM_001407965.1:c.2486del
  • NM_001407966.1:c.2102del
  • NM_001407967.1:c.2102del
  • NM_001407968.1:c.788-402del
  • NM_001407969.1:c.788-402del
  • NM_001407970.1:c.788-1509del
  • NM_001407971.1:c.788-1509del
  • NM_001407972.1:c.785-1509del
  • NM_001407973.1:c.788-1509del
  • NM_001407974.1:c.788-1509del
  • NM_001407975.1:c.788-1509del
  • NM_001407976.1:c.788-1509del
  • NM_001407977.1:c.788-1509del
  • NM_001407978.1:c.788-1509del
  • NM_001407979.1:c.788-1509del
  • NM_001407980.1:c.788-1509del
  • NM_001407981.1:c.788-1509del
  • NM_001407982.1:c.788-1509del
  • NM_001407983.1:c.788-1509del
  • NM_001407984.1:c.785-1509del
  • NM_001407985.1:c.785-1509del
  • NM_001407986.1:c.785-1509del
  • NM_001407990.1:c.788-1509del
  • NM_001407991.1:c.785-1509del
  • NM_001407992.1:c.785-1509del
  • NM_001407993.1:c.788-1509del
  • NM_001408392.1:c.785-1509del
  • NM_001408396.1:c.785-1509del
  • NM_001408397.1:c.785-1509del
  • NM_001408398.1:c.785-1509del
  • NM_001408399.1:c.785-1509del
  • NM_001408400.1:c.785-1509del
  • NM_001408401.1:c.785-1509del
  • NM_001408402.1:c.785-1509del
  • NM_001408403.1:c.788-1509del
  • NM_001408404.1:c.788-1509del
  • NM_001408406.1:c.791-1518del
  • NM_001408407.1:c.785-1509del
  • NM_001408408.1:c.779-1509del
  • NM_001408409.1:c.710-1509del
  • NM_001408410.1:c.647-1509del
  • NM_001408411.1:c.710-1509del
  • NM_001408412.1:c.710-1509del
  • NM_001408413.1:c.707-1509del
  • NM_001408414.1:c.710-1509del
  • NM_001408415.1:c.710-1509del
  • NM_001408416.1:c.707-1509del
  • NM_001408418.1:c.671-1509del
  • NM_001408419.1:c.671-1509del
  • NM_001408420.1:c.671-1509del
  • NM_001408421.1:c.668-1509del
  • NM_001408422.1:c.671-1509del
  • NM_001408423.1:c.671-1509del
  • NM_001408424.1:c.668-1509del
  • NM_001408425.1:c.665-1509del
  • NM_001408426.1:c.665-1509del
  • NM_001408427.1:c.665-1509del
  • NM_001408428.1:c.665-1509del
  • NM_001408429.1:c.665-1509del
  • NM_001408430.1:c.665-1509del
  • NM_001408431.1:c.668-1509del
  • NM_001408432.1:c.662-1509del
  • NM_001408433.1:c.662-1509del
  • NM_001408434.1:c.662-1509del
  • NM_001408435.1:c.662-1509del
  • NM_001408436.1:c.665-1509del
  • NM_001408437.1:c.665-1509del
  • NM_001408438.1:c.665-1509del
  • NM_001408439.1:c.665-1509del
  • NM_001408440.1:c.665-1509del
  • NM_001408441.1:c.665-1509del
  • NM_001408442.1:c.665-1509del
  • NM_001408443.1:c.665-1509del
  • NM_001408444.1:c.665-1509del
  • NM_001408445.1:c.662-1509del
  • NM_001408446.1:c.662-1509del
  • NM_001408447.1:c.662-1509del
  • NM_001408448.1:c.662-1509del
  • NM_001408450.1:c.662-1509del
  • NM_001408451.1:c.653-1509del
  • NM_001408452.1:c.647-1509del
  • NM_001408453.1:c.647-1509del
  • NM_001408454.1:c.647-1509del
  • NM_001408455.1:c.647-1509del
  • NM_001408456.1:c.647-1509del
  • NM_001408457.1:c.647-1509del
  • NM_001408458.1:c.647-1509del
  • NM_001408459.1:c.647-1509del
  • NM_001408460.1:c.647-1509del
  • NM_001408461.1:c.647-1509del
  • NM_001408462.1:c.644-1509del
  • NM_001408463.1:c.644-1509del
  • NM_001408464.1:c.644-1509del
  • NM_001408465.1:c.644-1509del
  • NM_001408466.1:c.647-1509del
  • NM_001408467.1:c.647-1509del
  • NM_001408468.1:c.644-1509del
  • NM_001408469.1:c.647-1509del
  • NM_001408470.1:c.644-1509del
  • NM_001408472.1:c.788-1509del
  • NM_001408473.1:c.785-1509del
  • NM_001408474.1:c.587-1509del
  • NM_001408475.1:c.584-1509del
  • NM_001408476.1:c.587-1509del
  • NM_001408478.1:c.578-1509del
  • NM_001408479.1:c.578-1509del
  • NM_001408480.1:c.578-1509del
  • NM_001408481.1:c.578-1509del
  • NM_001408482.1:c.578-1509del
  • NM_001408483.1:c.578-1509del
  • NM_001408484.1:c.578-1509del
  • NM_001408485.1:c.578-1509del
  • NM_001408489.1:c.578-1509del
  • NM_001408490.1:c.575-1509del
  • NM_001408491.1:c.575-1509del
  • NM_001408492.1:c.578-1509del
  • NM_001408493.1:c.575-1509del
  • NM_001408494.1:c.548-1509del
  • NM_001408495.1:c.545-1509del
  • NM_001408496.1:c.524-1509del
  • NM_001408497.1:c.524-1509del
  • NM_001408498.1:c.524-1509del
  • NM_001408499.1:c.524-1509del
  • NM_001408500.1:c.524-1509del
  • NM_001408501.1:c.524-1509del
  • NM_001408502.1:c.455-1509del
  • NM_001408503.1:c.521-1509del
  • NM_001408504.1:c.521-1509del
  • NM_001408505.1:c.521-1509del
  • NM_001408506.1:c.461-1509del
  • NM_001408507.1:c.461-1509del
  • NM_001408508.1:c.452-1509del
  • NM_001408509.1:c.452-1509del
  • NM_001408510.1:c.407-1509del
  • NM_001408511.1:c.404-1509del
  • NM_001408512.1:c.284-1509del
  • NM_001408513.1:c.578-1509del
  • NM_001408514.1:c.578-1509del
  • NM_007294.4:c.2990delMANE SELECT
  • NM_007297.4:c.2849del
  • NM_007298.4:c.788-1509del
  • NM_007299.4:c.788-1509del
  • NM_007300.4:c.2990del
  • NP_001394500.1:p.Asn926fs
  • NP_001394510.1:p.Asn997fs
  • NP_001394511.1:p.Asn997fs
  • NP_001394512.1:p.Asn997fs
  • NP_001394514.1:p.Asn997fs
  • NP_001394516.1:p.Asn996fs
  • NP_001394519.1:p.Asn996fs
  • NP_001394520.1:p.Asn996fs
  • NP_001394522.1:p.Asn997fs
  • NP_001394523.1:p.Asn997fs
  • NP_001394525.1:p.Asn997fs
  • NP_001394526.1:p.Asn997fs
  • NP_001394527.1:p.Asn997fs
  • NP_001394531.1:p.Asn997fs
  • NP_001394532.1:p.Asn997fs
  • NP_001394534.1:p.Asn997fs
  • NP_001394539.1:p.Asn996fs
  • NP_001394540.1:p.Asn996fs
  • NP_001394541.1:p.Asn996fs
  • NP_001394542.1:p.Asn996fs
  • NP_001394543.1:p.Asn996fs
  • NP_001394544.1:p.Asn996fs
  • NP_001394545.1:p.Asn997fs
  • NP_001394546.1:p.Asn997fs
  • NP_001394547.1:p.Asn997fs
  • NP_001394548.1:p.Asn997fs
  • NP_001394549.1:p.Asn997fs
  • NP_001394550.1:p.Asn997fs
  • NP_001394551.1:p.Asn997fs
  • NP_001394552.1:p.Asn997fs
  • NP_001394553.1:p.Asn997fs
  • NP_001394554.1:p.Asn997fs
  • NP_001394555.1:p.Asn997fs
  • NP_001394556.1:p.Asn996fs
  • NP_001394557.1:p.Asn996fs
  • NP_001394558.1:p.Asn996fs
  • NP_001394559.1:p.Asn996fs
  • NP_001394560.1:p.Asn996fs
  • NP_001394561.1:p.Asn996fs
  • NP_001394562.1:p.Asn996fs
  • NP_001394563.1:p.Asn996fs
  • NP_001394564.1:p.Asn996fs
  • NP_001394565.1:p.Asn996fs
  • NP_001394566.1:p.Asn996fs
  • NP_001394567.1:p.Asn996fs
  • NP_001394568.1:p.Asn997fs
  • NP_001394569.1:p.Asn997fs
  • NP_001394570.1:p.Asn997fs
  • NP_001394571.1:p.Asn997fs
  • NP_001394573.1:p.Asn996fs
  • NP_001394574.1:p.Asn996fs
  • NP_001394575.1:p.Asn994fs
  • NP_001394576.1:p.Asn994fs
  • NP_001394577.1:p.Asn956fs
  • NP_001394578.1:p.Asn955fs
  • NP_001394581.1:p.Asn997fs
  • NP_001394582.1:p.Asn971fs
  • NP_001394583.1:p.Asn971fs
  • NP_001394584.1:p.Asn971fs
  • NP_001394585.1:p.Asn971fs
  • NP_001394586.1:p.Asn971fs
  • NP_001394587.1:p.Asn971fs
  • NP_001394588.1:p.Asn970fs
  • NP_001394589.1:p.Asn970fs
  • NP_001394590.1:p.Asn970fs
  • NP_001394591.1:p.Asn970fs
  • NP_001394592.1:p.Asn971fs
  • NP_001394593.1:p.Asn956fs
  • NP_001394594.1:p.Asn956fs
  • NP_001394595.1:p.Asn956fs
  • NP_001394596.1:p.Asn956fs
  • NP_001394597.1:p.Asn956fs
  • NP_001394598.1:p.Asn956fs
  • NP_001394599.1:p.Asn955fs
  • NP_001394600.1:p.Asn955fs
  • NP_001394601.1:p.Asn955fs
  • NP_001394602.1:p.Asn955fs
  • NP_001394603.1:p.Asn956fs
  • NP_001394604.1:p.Asn956fs
  • NP_001394605.1:p.Asn956fs
  • NP_001394606.1:p.Asn956fs
  • NP_001394607.1:p.Asn956fs
  • NP_001394608.1:p.Asn956fs
  • NP_001394609.1:p.Asn956fs
  • NP_001394610.1:p.Asn956fs
  • NP_001394611.1:p.Asn956fs
  • NP_001394612.1:p.Asn956fs
  • NP_001394613.1:p.Asn997fs
  • NP_001394614.1:p.Asn955fs
  • NP_001394615.1:p.Asn955fs
  • NP_001394616.1:p.Asn955fs
  • NP_001394617.1:p.Asn955fs
  • NP_001394618.1:p.Asn955fs
  • NP_001394619.1:p.Asn955fs
  • NP_001394620.1:p.Asn955fs
  • NP_001394621.1:p.Asn950fs
  • NP_001394623.1:p.Asn950fs
  • NP_001394624.1:p.Asn950fs
  • NP_001394625.1:p.Asn950fs
  • NP_001394626.1:p.Asn950fs
  • NP_001394627.1:p.Asn950fs
  • NP_001394653.1:p.Asn950fs
  • NP_001394654.1:p.Asn950fs
  • NP_001394655.1:p.Asn950fs
  • NP_001394656.1:p.Asn950fs
  • NP_001394657.1:p.Asn950fs
  • NP_001394658.1:p.Asn950fs
  • NP_001394659.1:p.Asn950fs
  • NP_001394660.1:p.Asn950fs
  • NP_001394661.1:p.Asn950fs
  • NP_001394662.1:p.Asn950fs
  • NP_001394663.1:p.Asn950fs
  • NP_001394664.1:p.Asn950fs
  • NP_001394665.1:p.Asn950fs
  • NP_001394666.1:p.Asn950fs
  • NP_001394667.1:p.Asn950fs
  • NP_001394668.1:p.Asn950fs
  • NP_001394669.1:p.Asn949fs
  • NP_001394670.1:p.Asn949fs
  • NP_001394671.1:p.Asn949fs
  • NP_001394672.1:p.Asn949fs
  • NP_001394673.1:p.Asn949fs
  • NP_001394674.1:p.Asn949fs
  • NP_001394675.1:p.Asn949fs
  • NP_001394676.1:p.Asn949fs
  • NP_001394677.1:p.Asn949fs
  • NP_001394678.1:p.Asn949fs
  • NP_001394679.1:p.Asn950fs
  • NP_001394680.1:p.Asn950fs
  • NP_001394681.1:p.Asn950fs
  • NP_001394767.1:p.Asn949fs
  • NP_001394768.1:p.Asn949fs
  • NP_001394770.1:p.Asn949fs
  • NP_001394771.1:p.Asn949fs
  • NP_001394772.1:p.Asn949fs
  • NP_001394773.1:p.Asn949fs
  • NP_001394774.1:p.Asn949fs
  • NP_001394775.1:p.Asn949fs
  • NP_001394776.1:p.Asn949fs
  • NP_001394777.1:p.Asn949fs
  • NP_001394778.1:p.Asn949fs
  • NP_001394779.1:p.Asn950fs
  • NP_001394780.1:p.Asn950fs
  • NP_001394781.1:p.Asn950fs
  • NP_001394782.1:p.Asn926fs
  • NP_001394783.1:p.Asn997fs
  • NP_001394787.1:p.Asn997fs
  • NP_001394788.1:p.Asn997fs
  • NP_001394789.1:p.Asn996fs
  • NP_001394790.1:p.Asn996fs
  • NP_001394791.1:p.Asn930fs
  • NP_001394792.1:p.Asn956fs
  • NP_001394803.1:p.Asn929fs
  • NP_001394804.1:p.Asn929fs
  • NP_001394808.1:p.Asn927fs
  • NP_001394810.1:p.Asn927fs
  • NP_001394811.1:p.Asn927fs
  • NP_001394813.1:p.Asn927fs
  • NP_001394814.1:p.Asn927fs
  • NP_001394815.1:p.Asn927fs
  • NP_001394816.1:p.Asn927fs
  • NP_001394818.1:p.Asn927fs
  • NP_001394823.1:p.Asn926fs
  • NP_001394824.1:p.Asn926fs
  • NP_001394825.1:p.Asn926fs
  • NP_001394826.1:p.Asn926fs
  • NP_001394827.1:p.Asn926fs
  • NP_001394828.1:p.Asn926fs
  • NP_001394829.1:p.Asn927fs
  • NP_001394831.1:p.Asn927fs
  • NP_001394833.1:p.Asn927fs
  • NP_001394835.1:p.Asn927fs
  • NP_001394836.1:p.Asn927fs
  • NP_001394837.1:p.Asn927fs
  • NP_001394838.1:p.Asn927fs
  • NP_001394839.1:p.Asn927fs
  • NP_001394844.1:p.Asn926fs
  • NP_001394845.1:p.Asn926fs
  • NP_001394846.1:p.Asn926fs
  • NP_001394847.1:p.Asn926fs
  • NP_001394848.1:p.Asn956fs
  • NP_001394849.1:p.Asn909fs
  • NP_001394850.1:p.Asn909fs
  • NP_001394851.1:p.Asn909fs
  • NP_001394852.1:p.Asn909fs
  • NP_001394853.1:p.Asn909fs
  • NP_001394854.1:p.Asn909fs
  • NP_001394855.1:p.Asn909fs
  • NP_001394856.1:p.Asn909fs
  • NP_001394857.1:p.Asn909fs
  • NP_001394858.1:p.Asn909fs
  • NP_001394859.1:p.Asn908fs
  • NP_001394860.1:p.Asn908fs
  • NP_001394861.1:p.Asn908fs
  • NP_001394862.1:p.Asn909fs
  • NP_001394863.1:p.Asn908fs
  • NP_001394864.1:p.Asn909fs
  • NP_001394865.1:p.Asn908fs
  • NP_001394866.1:p.Asn956fs
  • NP_001394867.1:p.Asn956fs
  • NP_001394868.1:p.Asn956fs
  • NP_001394869.1:p.Asn955fs
  • NP_001394870.1:p.Asn955fs
  • NP_001394871.1:p.Asn950fs
  • NP_001394872.1:p.Asn949fs
  • NP_001394873.1:p.Asn950fs
  • NP_001394874.1:p.Asn950fs
  • NP_001394875.1:p.Asn886fs
  • NP_001394876.1:p.Asn886fs
  • NP_001394877.1:p.Asn886fs
  • NP_001394878.1:p.Asn886fs
  • NP_001394879.1:p.Asn886fs
  • NP_001394880.1:p.Asn886fs
  • NP_001394881.1:p.Asn886fs
  • NP_001394882.1:p.Asn886fs
  • NP_001394883.1:p.Asn885fs
  • NP_001394884.1:p.Asn885fs
  • NP_001394885.1:p.Asn885fs
  • NP_001394886.1:p.Asn886fs
  • NP_001394887.1:p.Asn885fs
  • NP_001394888.1:p.Asn870fs
  • NP_001394889.1:p.Asn870fs
  • NP_001394891.1:p.Asn869fs
  • NP_001394892.1:p.Asn870fs
  • NP_001394893.1:p.Asn949fs
  • NP_001394894.1:p.Asn829fs
  • NP_001394895.1:p.Asn701fs
  • NP_001394896.1:p.Asn701fs
  • NP_009225.1:p.Asn997Ilefs
  • NP_009225.1:p.Asn997fs
  • NP_009228.2:p.Asn950fs
  • NP_009231.2:p.Asn997fs
  • LRG_292t1:c.2986del
  • LRG_292:g.125443del
  • LRG_292p1:p.Asn997Ilefs
  • NC_000017.10:g.41244562del
  • NM_007294.3:c.2986delA
  • NM_007294.3:c.2990delA
  • NR_027676.1:n.3122delA
  • p.Asn997fs
Protein change:
N701fs
Links:
dbSNP: rs80357829
NCBI 1000 Genomes Browser:
rs80357829
Molecular consequence:
  • NM_001407571.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2981del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2981del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2912del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2912del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2912del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2912del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2912del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2912del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2909del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2909del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2909del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2909del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2912del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2777del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2723del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2654del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2654del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2654del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2654del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2609del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2609del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2606del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2609del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2846del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2486del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2102del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2102del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2849del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-402del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-402del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1518del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1509del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000323549Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
    reviewed by expert panel

    (ENIGMA BRCA1/2 Classification Criteria (2015))    		Pathogenic
    (Oct 18, 2016)     		germlinecuration

    Citation Link,

    SCV000325517Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
    criteria provided, single submitter

    (CIMBA Mutation Classification guidelines May 2016)    		Pathogenic
    (Oct 2, 2015)     		germlineclinical testing

    CIMBA_Mutation_Classification_guidelines_May16.pdf

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknownnot provided1not providednot providednot providedclinical testing, curation

    Details of each submission

    From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323549.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedcurationnot provided

    Description

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

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

    From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325517.4

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot provided1not provided

    Last Updated: Nov 3, 2024