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NM_007294.4(BRCA1):c.3991_4096+10delinsAT AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 2, 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:
RCV001190605.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.3991_4096+10delinsAT]

NM_007294.4(BRCA1):c.3991_4096+10delinsAT

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Indel
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3991_4096+10delinsAT
HGVS:
  • NC_000017.11:g.43091425_43091540del116insAT
  • NC_000017.11:g.43091425_43091540delinsAT
  • NG_005905.2:g.126444_126559delinsAT
  • NG_087068.1:g.407_522delinsAT
  • NM_001407571.1:c.3778_3883+10delinsAT
  • NM_001407581.1:c.3991_4096+10delinsAT
  • NM_001407582.1:c.3991_4096+10delinsAT
  • NM_001407583.1:c.3991_4096+10delinsAT
  • NM_001407585.1:c.3991_4096+10delinsAT
  • NM_001407587.1:c.3988_4093+10delinsAT
  • NM_001407590.1:c.3988_4093+10delinsAT
  • NM_001407591.1:c.3988_4093+10delinsAT
  • NM_001407593.1:c.3991_4096+10delinsAT
  • NM_001407594.1:c.3991_4096+10delinsAT
  • NM_001407596.1:c.3991_4096+10delinsAT
  • NM_001407597.1:c.3991_4096+10delinsAT
  • NM_001407598.1:c.3991_4096+10delinsAT
  • NM_001407602.1:c.3991_4096+10delinsAT
  • NM_001407603.1:c.3991_4096+10delinsAT
  • NM_001407605.1:c.3991_4096+10delinsAT
  • NM_001407610.1:c.3988_4093+10delinsAT
  • NM_001407611.1:c.3988_4093+10delinsAT
  • NM_001407612.1:c.3988_4093+10delinsAT
  • NM_001407613.1:c.3988_4093+10delinsAT
  • NM_001407614.1:c.3988_4093+10delinsAT
  • NM_001407615.1:c.3988_4093+10delinsAT
  • NM_001407616.1:c.3991_4096+10delinsAT
  • NM_001407617.1:c.3991_4096+10delinsAT
  • NM_001407618.1:c.3991_4096+10delinsAT
  • NM_001407619.1:c.3991_4096+10delinsAT
  • NM_001407620.1:c.3991_4096+10delinsAT
  • NM_001407621.1:c.3991_4096+10delinsAT
  • NM_001407622.1:c.3991_4096+10delinsAT
  • NM_001407623.1:c.3991_4096+10delinsAT
  • NM_001407624.1:c.3991_4096+10delinsAT
  • NM_001407625.1:c.3991_4096+10delinsAT
  • NM_001407626.1:c.3991_4096+10delinsAT
  • NM_001407627.1:c.3988_4093+10delinsAT
  • NM_001407628.1:c.3988_4093+10delinsAT
  • NM_001407629.1:c.3988_4093+10delinsAT
  • NM_001407630.1:c.3988_4093+10delinsAT
  • NM_001407631.1:c.3988_4093+10delinsAT
  • NM_001407632.1:c.3988_4093+10delinsAT
  • NM_001407633.1:c.3988_4093+10delinsAT
  • NM_001407634.1:c.3988_4093+10delinsAT
  • NM_001407635.1:c.3988_4093+10delinsAT
  • NM_001407636.1:c.3988_4093+10delinsAT
  • NM_001407637.1:c.3988_4093+10delinsAT
  • NM_001407638.1:c.3988_4093+10delinsAT
  • NM_001407639.1:c.3991_4096+10delinsAT
  • NM_001407640.1:c.3991_4096+10delinsAT
  • NM_001407641.1:c.3991_4096+10delinsAT
  • NM_001407642.1:c.3991_4096+10delinsAT
  • NM_001407644.1:c.3988_4093+10delinsAT
  • NM_001407645.1:c.3988_4093+10delinsAT
  • NM_001407646.1:c.3982_4087+10delinsAT
  • NM_001407647.1:c.3982_4087+10delinsAT
  • NM_001407648.1:c.3868_3973+10delinsAT
  • NM_001407649.1:c.3865_3970+10delinsAT
  • NM_001407652.1:c.3991_4096+10delinsAT
  • NM_001407653.1:c.3913_4018+10delinsAT
  • NM_001407654.1:c.3913_4018+10delinsAT
  • NM_001407655.1:c.3913_4018+10delinsAT
  • NM_001407656.1:c.3913_4018+10delinsAT
  • NM_001407657.1:c.3913_4018+10delinsAT
  • NM_001407658.1:c.3913_4018+10delinsAT
  • NM_001407659.1:c.3910_4015+10delinsAT
  • NM_001407660.1:c.3910_4015+10delinsAT
  • NM_001407661.1:c.3910_4015+10delinsAT
  • NM_001407662.1:c.3910_4015+10delinsAT
  • NM_001407663.1:c.3913_4018+10delinsAT
  • NM_001407664.1:c.3868_3973+10delinsAT
  • NM_001407665.1:c.3868_3973+10delinsAT
  • NM_001407666.1:c.3868_3973+10delinsAT
  • NM_001407667.1:c.3868_3973+10delinsAT
  • NM_001407668.1:c.3868_3973+10delinsAT
  • NM_001407669.1:c.3868_3973+10delinsAT
  • NM_001407670.1:c.3865_3970+10delinsAT
  • NM_001407671.1:c.3865_3970+10delinsAT
  • NM_001407672.1:c.3865_3970+10delinsAT
  • NM_001407673.1:c.3865_3970+10delinsAT
  • NM_001407674.1:c.3868_3973+10delinsAT
  • NM_001407675.1:c.3868_3973+10delinsAT
  • NM_001407676.1:c.3868_3973+10delinsAT
  • NM_001407677.1:c.3868_3973+10delinsAT
  • NM_001407678.1:c.3868_3973+10delinsAT
  • NM_001407679.1:c.3868_3973+10delinsAT
  • NM_001407680.1:c.3868_3973+10delinsAT
  • NM_001407681.1:c.3868_3973+10delinsAT
  • NM_001407682.1:c.3868_3973+10delinsAT
  • NM_001407683.1:c.3868_3973+10delinsAT
  • NM_001407684.1:c.3991_4096+10delinsAT
  • NM_001407685.1:c.3865_3970+10delinsAT
  • NM_001407686.1:c.3865_3970+10delinsAT
  • NM_001407687.1:c.3865_3970+10delinsAT
  • NM_001407688.1:c.3865_3970+10delinsAT
  • NM_001407689.1:c.3865_3970+10delinsAT
  • NM_001407690.1:c.3865_3970+10delinsAT
  • NM_001407691.1:c.3865_3970+10delinsAT
  • NM_001407692.1:c.3850_3955+10delinsAT
  • NM_001407694.1:c.3850_3955+10delinsAT
  • NM_001407695.1:c.3850_3955+10delinsAT
  • NM_001407696.1:c.3850_3955+10delinsAT
  • NM_001407697.1:c.3850_3955+10delinsAT
  • NM_001407698.1:c.3850_3955+10delinsAT
  • NM_001407724.1:c.3850_3955+10delinsAT
  • NM_001407725.1:c.3850_3955+10delinsAT
  • NM_001407726.1:c.3850_3955+10delinsAT
  • NM_001407727.1:c.3850_3955+10delinsAT
  • NM_001407728.1:c.3850_3955+10delinsAT
  • NM_001407729.1:c.3850_3955+10delinsAT
  • NM_001407730.1:c.3850_3955+10delinsAT
  • NM_001407731.1:c.3850_3955+10delinsAT
  • NM_001407732.1:c.3850_3955+10delinsAT
  • NM_001407733.1:c.3850_3955+10delinsAT
  • NM_001407734.1:c.3850_3955+10delinsAT
  • NM_001407735.1:c.3850_3955+10delinsAT
  • NM_001407736.1:c.3850_3955+10delinsAT
  • NM_001407737.1:c.3850_3955+10delinsAT
  • NM_001407738.1:c.3850_3955+10delinsAT
  • NM_001407739.1:c.3850_3955+10delinsAT
  • NM_001407740.1:c.3847_3952+10delinsAT
  • NM_001407741.1:c.3847_3952+10delinsAT
  • NM_001407742.1:c.3847_3952+10delinsAT
  • NM_001407743.1:c.3847_3952+10delinsAT
  • NM_001407744.1:c.3847_3952+10delinsAT
  • NM_001407745.1:c.3847_3952+10delinsAT
  • NM_001407746.1:c.3847_3952+10delinsAT
  • NM_001407747.1:c.3847_3952+10delinsAT
  • NM_001407748.1:c.3847_3952+10delinsAT
  • NM_001407749.1:c.3847_3952+10delinsAT
  • NM_001407750.1:c.3850_3955+10delinsAT
  • NM_001407751.1:c.3850_3955+10delinsAT
  • NM_001407752.1:c.3850_3955+10delinsAT
  • NM_001407838.1:c.3847_3952+10delinsAT
  • NM_001407839.1:c.3847_3952+10delinsAT
  • NM_001407841.1:c.3847_3952+10delinsAT
  • NM_001407842.1:c.3847_3952+10delinsAT
  • NM_001407843.1:c.3847_3952+10delinsAT
  • NM_001407844.1:c.3847_3952+10delinsAT
  • NM_001407845.1:c.3847_3952+10delinsAT
  • NM_001407846.1:c.3847_3952+10delinsAT
  • NM_001407847.1:c.3847_3952+10delinsAT
  • NM_001407848.1:c.3847_3952+10delinsAT
  • NM_001407849.1:c.3847_3952+10delinsAT
  • NM_001407850.1:c.3850_3955+10delinsAT
  • NM_001407851.1:c.3850_3955+10delinsAT
  • NM_001407852.1:c.3850_3955+10delinsAT
  • NM_001407853.1:c.3778_3883+10delinsAT
  • NM_001407854.1:c.3991_4096+10delinsAT
  • NM_001407858.1:c.3991_4096+10delinsAT
  • NM_001407859.1:c.3991_4096+10delinsAT
  • NM_001407860.1:c.3988_4093+10delinsAT
  • NM_001407861.1:c.3988_4093+10delinsAT
  • NM_001407862.1:c.3790_3895+10delinsAT
  • NM_001407863.1:c.3868_3973+10delinsAT
  • NM_001407874.1:c.3787_3892+10delinsAT
  • NM_001407875.1:c.3787_3892+10delinsAT
  • NM_001407879.1:c.3781_3886+10delinsAT
  • NM_001407881.1:c.3781_3886+10delinsAT
  • NM_001407882.1:c.3781_3886+10delinsAT
  • NM_001407884.1:c.3781_3886+10delinsAT
  • NM_001407885.1:c.3781_3886+10delinsAT
  • NM_001407886.1:c.3781_3886+10delinsAT
  • NM_001407887.1:c.3781_3886+10delinsAT
  • NM_001407889.1:c.3781_3886+10delinsAT
  • NM_001407894.1:c.3778_3883+10delinsAT
  • NM_001407895.1:c.3778_3883+10delinsAT
  • NM_001407896.1:c.3778_3883+10delinsAT
  • NM_001407897.1:c.3778_3883+10delinsAT
  • NM_001407898.1:c.3778_3883+10delinsAT
  • NM_001407899.1:c.3778_3883+10delinsAT
  • NM_001407900.1:c.3781_3886+10delinsAT
  • NM_001407902.1:c.3781_3886+10delinsAT
  • NM_001407904.1:c.3781_3886+10delinsAT
  • NM_001407906.1:c.3781_3886+10delinsAT
  • NM_001407907.1:c.3781_3886+10delinsAT
  • NM_001407908.1:c.3781_3886+10delinsAT
  • NM_001407909.1:c.3781_3886+10delinsAT
  • NM_001407910.1:c.3781_3886+10delinsAT
  • NM_001407915.1:c.3778_3883+10delinsAT
  • NM_001407916.1:c.3778_3883+10delinsAT
  • NM_001407917.1:c.3778_3883+10delinsAT
  • NM_001407918.1:c.3778_3883+10delinsAT
  • NM_001407919.1:c.3868_3973+10delinsAT
  • NM_001407920.1:c.3727_3832+10delinsAT
  • NM_001407921.1:c.3727_3832+10delinsAT
  • NM_001407922.1:c.3727_3832+10delinsAT
  • NM_001407923.1:c.3727_3832+10delinsAT
  • NM_001407924.1:c.3727_3832+10delinsAT
  • NM_001407925.1:c.3727_3832+10delinsAT
  • NM_001407926.1:c.3727_3832+10delinsAT
  • NM_001407927.1:c.3727_3832+10delinsAT
  • NM_001407928.1:c.3727_3832+10delinsAT
  • NM_001407929.1:c.3727_3832+10delinsAT
  • NM_001407930.1:c.3724_3829+10delinsAT
  • NM_001407931.1:c.3724_3829+10delinsAT
  • NM_001407932.1:c.3724_3829+10delinsAT
  • NM_001407933.1:c.3727_3832+10delinsAT
  • NM_001407934.1:c.3724_3829+10delinsAT
  • NM_001407935.1:c.3727_3832+10delinsAT
  • NM_001407936.1:c.3724_3829+10delinsAT
  • NM_001407937.1:c.3868_3973+10delinsAT
  • NM_001407938.1:c.3868_3973+10delinsAT
  • NM_001407939.1:c.3868_3973+10delinsAT
  • NM_001407940.1:c.3865_3970+10delinsAT
  • NM_001407941.1:c.3865_3970+10delinsAT
  • NM_001407942.1:c.3850_3955+10delinsAT
  • NM_001407943.1:c.3847_3952+10delinsAT
  • NM_001407944.1:c.3850_3955+10delinsAT
  • NM_001407945.1:c.3850_3955+10delinsAT
  • NM_001407946.1:c.3658_3763+10delinsAT
  • NM_001407947.1:c.3658_3763+10delinsAT
  • NM_001407948.1:c.3658_3763+10delinsAT
  • NM_001407949.1:c.3658_3763+10delinsAT
  • NM_001407950.1:c.3658_3763+10delinsAT
  • NM_001407951.1:c.3658_3763+10delinsAT
  • NM_001407952.1:c.3658_3763+10delinsAT
  • NM_001407953.1:c.3658_3763+10delinsAT
  • NM_001407954.1:c.3655_3760+10delinsAT
  • NM_001407955.1:c.3655_3760+10delinsAT
  • NM_001407956.1:c.3655_3760+10delinsAT
  • NM_001407957.1:c.3658_3763+10delinsAT
  • NM_001407958.1:c.3655_3760+10delinsAT
  • NM_001407959.1:c.3610_3715+10delinsAT
  • NM_001407960.1:c.3610_3715+10delinsAT
  • NM_001407962.1:c.3607_3712+10delinsAT
  • NM_001407963.1:c.3610_3715+10delinsAT
  • NM_001407964.1:c.3847_3952+10delinsAT
  • NM_001407965.1:c.3487_3592+10delinsAT
  • NM_001407966.1:c.3103_3208+10delinsAT
  • NM_001407967.1:c.3103_3208+10delinsAT
  • NM_001407968.1:c.1387_1492+10delinsAT
  • NM_001407969.1:c.1387_1492+10delinsAT
  • NM_001407970.1:c.788-508_788-393delinsAT
  • NM_001407971.1:c.788-508_788-393delinsAT
  • NM_001407972.1:c.785-508_785-393delinsAT
  • NM_001407973.1:c.788-508_788-393delinsAT
  • NM_001407974.1:c.788-508_788-393delinsAT
  • NM_001407975.1:c.788-508_788-393delinsAT
  • NM_001407976.1:c.788-508_788-393delinsAT
  • NM_001407977.1:c.788-508_788-393delinsAT
  • NM_001407978.1:c.788-508_788-393delinsAT
  • NM_001407979.1:c.788-508_788-393delinsAT
  • NM_001407980.1:c.788-508_788-393delinsAT
  • NM_001407981.1:c.788-508_788-393delinsAT
  • NM_001407982.1:c.788-508_788-393delinsAT
  • NM_001407983.1:c.788-508_788-393delinsAT
  • NM_001407984.1:c.785-508_785-393delinsAT
  • NM_001407985.1:c.785-508_785-393delinsAT
  • NM_001407986.1:c.785-508_785-393delinsAT
  • NM_001407990.1:c.788-508_788-393delinsAT
  • NM_001407991.1:c.785-508_785-393delinsAT
  • NM_001407992.1:c.785-508_785-393delinsAT
  • NM_001407993.1:c.788-508_788-393delinsAT
  • NM_001408392.1:c.785-508_785-393delinsAT
  • NM_001408396.1:c.785-508_785-393delinsAT
  • NM_001408397.1:c.785-508_785-393delinsAT
  • NM_001408398.1:c.785-508_785-393delinsAT
  • NM_001408399.1:c.785-508_785-393delinsAT
  • NM_001408400.1:c.785-508_785-393delinsAT
  • NM_001408401.1:c.785-508_785-393delinsAT
  • NM_001408402.1:c.785-508_785-393delinsAT
  • NM_001408403.1:c.788-508_788-393delinsAT
  • NM_001408404.1:c.788-508_788-393delinsAT
  • NM_001408406.1:c.791-517_791-402delinsAT
  • NM_001408407.1:c.785-508_785-393delinsAT
  • NM_001408408.1:c.779-508_779-393delinsAT
  • NM_001408409.1:c.710-508_710-393delinsAT
  • NM_001408410.1:c.647-508_647-393delinsAT
  • NM_001408411.1:c.710-508_710-393delinsAT
  • NM_001408412.1:c.710-508_710-393delinsAT
  • NM_001408413.1:c.707-508_707-393delinsAT
  • NM_001408414.1:c.710-508_710-393delinsAT
  • NM_001408415.1:c.710-508_710-393delinsAT
  • NM_001408416.1:c.707-508_707-393delinsAT
  • NM_001408418.1:c.671-508_671-393delinsAT
  • NM_001408419.1:c.671-508_671-393delinsAT
  • NM_001408420.1:c.671-508_671-393delinsAT
  • NM_001408421.1:c.668-508_668-393delinsAT
  • NM_001408422.1:c.671-508_671-393delinsAT
  • NM_001408423.1:c.671-508_671-393delinsAT
  • NM_001408424.1:c.668-508_668-393delinsAT
  • NM_001408425.1:c.665-508_665-393delinsAT
  • NM_001408426.1:c.665-508_665-393delinsAT
  • NM_001408427.1:c.665-508_665-393delinsAT
  • NM_001408428.1:c.665-508_665-393delinsAT
  • NM_001408429.1:c.665-508_665-393delinsAT
  • NM_001408430.1:c.665-508_665-393delinsAT
  • NM_001408431.1:c.668-508_668-393delinsAT
  • NM_001408432.1:c.662-508_662-393delinsAT
  • NM_001408433.1:c.662-508_662-393delinsAT
  • NM_001408434.1:c.662-508_662-393delinsAT
  • NM_001408435.1:c.662-508_662-393delinsAT
  • NM_001408436.1:c.665-508_665-393delinsAT
  • NM_001408437.1:c.665-508_665-393delinsAT
  • NM_001408438.1:c.665-508_665-393delinsAT
  • NM_001408439.1:c.665-508_665-393delinsAT
  • NM_001408440.1:c.665-508_665-393delinsAT
  • NM_001408441.1:c.665-508_665-393delinsAT
  • NM_001408442.1:c.665-508_665-393delinsAT
  • NM_001408443.1:c.665-508_665-393delinsAT
  • NM_001408444.1:c.665-508_665-393delinsAT
  • NM_001408445.1:c.662-508_662-393delinsAT
  • NM_001408446.1:c.662-508_662-393delinsAT
  • NM_001408447.1:c.662-508_662-393delinsAT
  • NM_001408448.1:c.662-508_662-393delinsAT
  • NM_001408450.1:c.662-508_662-393delinsAT
  • NM_001408451.1:c.653-508_653-393delinsAT
  • NM_001408452.1:c.647-508_647-393delinsAT
  • NM_001408453.1:c.647-508_647-393delinsAT
  • NM_001408454.1:c.647-508_647-393delinsAT
  • NM_001408455.1:c.647-508_647-393delinsAT
  • NM_001408456.1:c.647-508_647-393delinsAT
  • NM_001408457.1:c.647-508_647-393delinsAT
  • NM_001408458.1:c.647-508_647-393delinsAT
  • NM_001408459.1:c.647-508_647-393delinsAT
  • NM_001408460.1:c.647-508_647-393delinsAT
  • NM_001408461.1:c.647-508_647-393delinsAT
  • NM_001408462.1:c.644-508_644-393delinsAT
  • NM_001408463.1:c.644-508_644-393delinsAT
  • NM_001408464.1:c.644-508_644-393delinsAT
  • NM_001408465.1:c.644-508_644-393delinsAT
  • NM_001408466.1:c.647-508_647-393delinsAT
  • NM_001408467.1:c.647-508_647-393delinsAT
  • NM_001408468.1:c.644-508_644-393delinsAT
  • NM_001408469.1:c.647-508_647-393delinsAT
  • NM_001408470.1:c.644-508_644-393delinsAT
  • NM_001408472.1:c.788-508_788-393delinsAT
  • NM_001408473.1:c.785-508_785-393delinsAT
  • NM_001408474.1:c.587-508_587-393delinsAT
  • NM_001408475.1:c.584-508_584-393delinsAT
  • NM_001408476.1:c.587-508_587-393delinsAT
  • NM_001408478.1:c.578-508_578-393delinsAT
  • NM_001408479.1:c.578-508_578-393delinsAT
  • NM_001408480.1:c.578-508_578-393delinsAT
  • NM_001408481.1:c.578-508_578-393delinsAT
  • NM_001408482.1:c.578-508_578-393delinsAT
  • NM_001408483.1:c.578-508_578-393delinsAT
  • NM_001408484.1:c.578-508_578-393delinsAT
  • NM_001408485.1:c.578-508_578-393delinsAT
  • NM_001408489.1:c.578-508_578-393delinsAT
  • NM_001408490.1:c.575-508_575-393delinsAT
  • NM_001408491.1:c.575-508_575-393delinsAT
  • NM_001408492.1:c.578-508_578-393delinsAT
  • NM_001408493.1:c.575-508_575-393delinsAT
  • NM_001408494.1:c.548-508_548-393delinsAT
  • NM_001408495.1:c.545-508_545-393delinsAT
  • NM_001408496.1:c.524-508_524-393delinsAT
  • NM_001408497.1:c.524-508_524-393delinsAT
  • NM_001408498.1:c.524-508_524-393delinsAT
  • NM_001408499.1:c.524-508_524-393delinsAT
  • NM_001408500.1:c.524-508_524-393delinsAT
  • NM_001408501.1:c.524-508_524-393delinsAT
  • NM_001408502.1:c.455-508_455-393delinsAT
  • NM_001408503.1:c.521-508_521-393delinsAT
  • NM_001408504.1:c.521-508_521-393delinsAT
  • NM_001408505.1:c.521-508_521-393delinsAT
  • NM_001408506.1:c.461-508_461-393delinsAT
  • NM_001408507.1:c.461-508_461-393delinsAT
  • NM_001408508.1:c.452-508_452-393delinsAT
  • NM_001408509.1:c.452-508_452-393delinsAT
  • NM_001408510.1:c.407-508_407-393delinsAT
  • NM_001408511.1:c.404-508_404-393delinsAT
  • NM_001408512.1:c.284-508_284-393delinsAT
  • NM_001408513.1:c.578-508_578-393delinsAT
  • NM_001408514.1:c.578-508_578-393delinsAT
  • NM_007294.4:c.3991_4096+10delinsATMANE SELECT
  • NM_007297.4:c.3850_3955+10delinsAT
  • NM_007298.4:c.788-508_788-393delinsAT
  • NM_007299.4:c.788-508_788-393delinsAT
  • NM_007300.4:c.3991_4096+10delinsAT
  • LRG_292t1:c.3991_4096+10delinsAT
  • LRG_292:g.126444_126559delinsAT
  • NC_000017.10:g.41243442_41243557delinsAT
  • NC_000017.10:g.41243442_41243557delinsAT
  • NM_007294.3:c.3991_4096+10delinsAT
Links:
dbSNP: rs2053467384
NCBI 1000 Genomes Browser:
rs2053467384
Molecular consequence:
  • NM_001407970.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-517_791-402delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-508_779-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-508_710-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-508_710-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-508_710-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-508_707-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-508_710-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-508_710-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-508_707-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-508_671-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-508_671-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-508_671-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-508_668-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-508_671-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-508_671-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-508_668-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-508_668-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-508_665-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-508_662-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-508_653-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-508_644-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-508_644-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-508_644-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-508_644-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-508_644-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-508_647-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-508_644-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-508_785-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-508_587-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-508_584-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-508_587-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-508_575-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-508_575-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-508_575-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-508_548-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-508_545-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-508_524-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-508_524-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-508_524-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-508_524-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-508_524-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-508_524-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-508_455-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-508_521-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-508_521-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-508_521-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-508_461-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-508_461-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-508_452-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-508_452-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-508_407-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-508_404-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-508_284-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-508_578-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-508_788-393delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.3982_4087+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.3982_4087+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.3913_4018+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.3913_4018+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.3913_4018+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.3913_4018+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.3913_4018+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.3913_4018+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.3910_4015+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.3910_4015+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.3910_4015+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.3910_4015+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.3913_4018+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407692.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407698.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407726.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407732.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407736.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407738.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407742.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407744.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407747.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407750.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407751.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407841.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407845.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407849.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407852.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.3988_4093+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.3790_3895+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.3787_3892+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.3787_3892+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407881.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407898.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407902.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.3781_3886+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.3778_3883+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407924.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407925.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407928.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407929.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.3724_3829+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407931.1:c.3724_3829+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407932.1:c.3724_3829+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.3724_3829+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.3727_3832+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407936.1:c.3724_3829+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.3868_3973+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.3865_3970+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407945.1:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.3655_3760+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.3655_3760+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.3655_3760+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.3658_3763+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.3655_3760+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407959.1:c.3610_3715+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.3610_3715+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.3607_3712+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407963.1:c.3610_3715+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.3847_3952+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.3487_3592+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407966.1:c.3103_3208+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407967.1:c.3103_3208+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.1387_1492+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.1387_1492+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.3850_3955+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.3991_4096+10delinsAT - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001358122Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 2, 2020) 		germlineclinical testing

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

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Summary from all submissions

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

Citations

PubMed

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 Color Diagnostics, LLC DBA Color Health, SCV001358122.2

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

Description

This variant causes a deletion encompassing the last 106 bases of exon 10 and the intron 10 splice donor site in the BRCA1 gene. To our knowledge, functional studies have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. However, a canonical intron 10 splice site variant (c.4096+1G>A) has been reported to reduce full-length BRCA1 transcript level (PMID: 17011978) and also has been reported in multiple individuals affected with breast cancer (PMID: 21156238, 23239986, 27328445, 29116469, 30728895) and ovarian cancer (PMID: 17011978, 24131973). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

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

Last Updated: Sep 29, 2024