NM_007294.4(BRCA1):c.115_134+1567del AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 29, 2022
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:: RCV002346685.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.115_134+1567del]

NM_007294.4(BRCA1):c.115_134+1567del

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.115_134+1567del

HGVS:

NC_000017.11:g.43114161_43115747del
NG_005905.2:g.102239_103825del
NM_001407571.1:c.-74_-55+1567del
NM_001407581.1:c.115_134+1567del
NM_001407582.1:c.115_134+1567del
NM_001407583.1:c.115_134+1567del
NM_001407585.1:c.115_134+1567del
NM_001407587.1:c.115_134+1567del
NM_001407590.1:c.115_134+1567del
NM_001407591.1:c.115_134+1567del
NM_001407593.1:c.115_134+1567del
NM_001407594.1:c.115_134+1567del
NM_001407596.1:c.115_134+1567del
NM_001407597.1:c.115_134+1567del
NM_001407598.1:c.115_134+1567del
NM_001407602.1:c.115_134+1567del
NM_001407603.1:c.115_134+1567del
NM_001407605.1:c.115_134+1567del
NM_001407610.1:c.115_134+1567del
NM_001407611.1:c.115_134+1567del
NM_001407612.1:c.115_134+1567del
NM_001407613.1:c.115_134+1567del
NM_001407614.1:c.115_134+1567del
NM_001407615.1:c.115_134+1567del
NM_001407616.1:c.115_134+1567del
NM_001407617.1:c.115_134+1567del
NM_001407618.1:c.115_134+1567del
NM_001407619.1:c.115_134+1567del
NM_001407620.1:c.115_134+1567del
NM_001407621.1:c.115_134+1567del
NM_001407622.1:c.115_134+1567del
NM_001407623.1:c.115_134+1567del
NM_001407624.1:c.115_134+1567del
NM_001407625.1:c.115_134+1567del
NM_001407626.1:c.115_134+1567del
NM_001407627.1:c.115_134+1567del
NM_001407628.1:c.115_134+1567del
NM_001407629.1:c.115_134+1567del
NM_001407630.1:c.115_134+1567del
NM_001407631.1:c.115_134+1567del
NM_001407632.1:c.115_134+1567del
NM_001407633.1:c.115_134+1567del
NM_001407634.1:c.115_134+1567del
NM_001407635.1:c.115_134+1567del
NM_001407636.1:c.115_134+1567del
NM_001407637.1:c.115_134+1567del
NM_001407638.1:c.115_134+1567del
NM_001407639.1:c.115_134+1567del
NM_001407640.1:c.115_134+1567del
NM_001407641.1:c.115_134+1567del
NM_001407642.1:c.115_134+1567del
NM_001407644.1:c.115_134+1567del
NM_001407645.1:c.115_134+1567del
NM_001407646.1:c.115_134+1567del
NM_001407647.1:c.115_134+1567del
NM_001407648.1:c.115_134+1567del
NM_001407649.1:c.115_134+1567del
NM_001407652.1:c.115_134+1567del
NM_001407653.1:c.115_134+1567del
NM_001407654.1:c.115_134+1567del
NM_001407655.1:c.115_134+1567del
NM_001407656.1:c.115_134+1567del
NM_001407657.1:c.115_134+1567del
NM_001407658.1:c.115_134+1567del
NM_001407659.1:c.115_134+1567del
NM_001407660.1:c.115_134+1567del
NM_001407661.1:c.115_134+1567del
NM_001407662.1:c.115_134+1567del
NM_001407663.1:c.115_134+1567del
NM_001407664.1:c.115_134+1567del
NM_001407665.1:c.115_134+1567del
NM_001407666.1:c.115_134+1567del
NM_001407667.1:c.115_134+1567del
NM_001407668.1:c.115_134+1567del
NM_001407669.1:c.115_134+1567del
NM_001407670.1:c.115_134+1567del
NM_001407671.1:c.115_134+1567del
NM_001407672.1:c.115_134+1567del
NM_001407673.1:c.115_134+1567del
NM_001407674.1:c.115_134+1567del
NM_001407675.1:c.115_134+1567del
NM_001407676.1:c.115_134+1567del
NM_001407677.1:c.115_134+1567del
NM_001407678.1:c.115_134+1567del
NM_001407679.1:c.115_134+1567del
NM_001407680.1:c.115_134+1567del
NM_001407681.1:c.115_134+1567del
NM_001407682.1:c.115_134+1567del
NM_001407683.1:c.115_134+1567del
NM_001407684.1:c.115_134+1567del
NM_001407685.1:c.115_134+1567del
NM_001407686.1:c.115_134+1567del
NM_001407687.1:c.115_134+1567del
NM_001407688.1:c.115_134+1567del
NM_001407689.1:c.115_134+1567del
NM_001407690.1:c.115_134+1567del
NM_001407691.1:c.115_134+1567del
NM_001407692.1:c.-7-9212_-7-7626del
NM_001407694.1:c.-143_-124+1567del
NM_001407695.1:c.-147_-127-1553del
NM_001407696.1:c.-143_-124+1567del
NM_001407697.1:c.-27_-8+1567del
NM_001407698.1:c.-8+8272_-7-7626del
NM_001407724.1:c.-143_-124+1567del
NM_001407725.1:c.-27_-8+1567del
NM_001407726.1:c.-8+5813_-8+7399del
NM_001407727.1:c.-143_-124+1567del
NM_001407728.1:c.-27_-8+1567del
NM_001407729.1:c.-27_-8+1567del
NM_001407730.1:c.-27_-8+1567del
NM_001407731.1:c.-143_-124+1567del
NM_001407732.1:c.-8+8272_-7-7626del
NM_001407733.1:c.-143_-124+1567del
NM_001407734.1:c.-27_-8+1567del
NM_001407735.1:c.-27_-8+1567del
NM_001407736.1:c.-8+8272_-7-7626del
NM_001407737.1:c.-27_-8+1567del
NM_001407738.1:c.-8+8272_-7-7626del
NM_001407739.1:c.-27_-8+1567del
NM_001407740.1:c.-27_-8+1567del
NM_001407741.1:c.-27_-8+1567del
NM_001407742.1:c.-8+8272_-7-7626del
NM_001407743.1:c.-27_-8+1567del
NM_001407744.1:c.-8+8272_-7-7626del
NM_001407745.1:c.-27_-8+1567del
NM_001407746.1:c.-143_-124+1567del
NM_001407747.1:c.-7-9212_-7-7626del
NM_001407748.1:c.-27_-8+1567del
NM_001407749.1:c.-143_-124+1567del
NM_001407750.1:c.-8+8272_-7-7626del
NM_001407751.1:c.-8+5813_-8+7399del
NM_001407752.1:c.-27_-8+1567del
NM_001407838.1:c.-27_-8+1567del
NM_001407839.1:c.-27_-8+1567del
NM_001407841.1:c.-23_-8+1571del
NM_001407842.1:c.-143_-124+1567del
NM_001407843.1:c.-143_-124+1567del
NM_001407844.1:c.-27_-8+1567del
NM_001407845.1:c.-8+8272_-7-7626del
NM_001407846.1:c.-27_-8+1567del
NM_001407847.1:c.-27_-8+1567del
NM_001407848.1:c.-27_-8+1567del
NM_001407849.1:c.-8+8272_-7-7626del
NM_001407850.1:c.-27_-8+1567del
NM_001407851.1:c.-27_-8+1567del
NM_001407852.1:c.-8+8272_-7-7626del
NM_001407853.1:c.-74_-55+1567del
NM_001407854.1:c.115_134+1567del
NM_001407858.1:c.115_134+1567del
NM_001407859.1:c.115_134+1567del
NM_001407860.1:c.115_134+1567del
NM_001407861.1:c.115_134+1567del
NM_001407862.1:c.115_134+1567del
NM_001407863.1:c.115_134+1567del
NM_001407874.1:c.115_134+1567del
NM_001407875.1:c.115_134+1567del
NM_001407879.1:c.-74_-55+1567del
NM_001407881.1:c.-55+8272_-54-7626del
NM_001407882.1:c.-74_-55+1567del
NM_001407884.1:c.-74_-55+1567del
NM_001407885.1:c.-74_-55+1567del
NM_001407886.1:c.-74_-55+1567del
NM_001407887.1:c.-74_-55+1567del
NM_001407889.1:c.-190_-170-1557del
NM_001407894.1:c.-74_-55+1567del
NM_001407895.1:c.-74_-55+1567del
NM_001407896.1:c.-74_-55+1567del
NM_001407897.1:c.-74_-55+1567del
NM_001407898.1:c.-55+8272_-54-7626del
NM_001407899.1:c.-74_-55+1567del
NM_001407900.1:c.-190_-171+1567del
NM_001407902.1:c.-55+8272_-54-7626del
NM_001407904.1:c.-74_-55+1567del
NM_001407906.1:c.-74_-55+1567del
NM_001407907.1:c.-74_-55+1567del
NM_001407908.1:c.-74_-55+1567del
NM_001407909.1:c.-74_-55+1567del
NM_001407910.1:c.-74_-55+1567del
NM_001407915.1:c.-74_-55+1567del
NM_001407916.1:c.-74_-55+1567del
NM_001407917.1:c.-74_-55+1567del
NM_001407918.1:c.-74_-55+1567del
NM_001407919.1:c.115_134+1567del
NM_001407920.1:c.-27_-8+1567del
NM_001407921.1:c.-27_-8+1567del
NM_001407922.1:c.-27_-8+1567del
NM_001407923.1:c.-27_-8+1567del
NM_001407924.1:c.-8+8272_-7-7626del
NM_001407925.1:c.-8+8272_-7-7626del
NM_001407926.1:c.-27_-8+1567del
NM_001407927.1:c.-27_-8+1567del
NM_001407928.1:c.-8+8272_-7-7626del
NM_001407929.1:c.-8+8272_-7-7626del
NM_001407930.1:c.-143_-124+1567del
NM_001407931.1:c.-7-9212_-7-7626del
NM_001407932.1:c.-8+8272_-7-7626del
NM_001407933.1:c.-27_-8+1567del
NM_001407934.1:c.-27_-8+1567del
NM_001407935.1:c.-27_-8+1567del
NM_001407936.1:c.-8+8272_-7-7626del
NM_001407937.1:c.115_134+1567del
NM_001407938.1:c.115_134+1567del
NM_001407939.1:c.115_134+1567del
NM_001407940.1:c.115_134+1567del
NM_001407941.1:c.115_134+1567del
NM_001407942.1:c.-143_-124+1567del
NM_001407943.1:c.-27_-8+1567del
NM_001407944.1:c.-27_-8+1567del
NM_001407945.1:c.-8+8272_-7-7626del
NM_001407946.1:c.-74_-55+1567del
NM_001407947.1:c.-74_-55+1567del
NM_001407948.1:c.-74_-55+1567del
NM_001407949.1:c.-74_-55+1567del
NM_001407950.1:c.-74_-55+1567del
NM_001407951.1:c.-74_-55+1567del
NM_001407952.1:c.-74_-55+1567del
NM_001407953.1:c.-74_-55+1567del
NM_001407954.1:c.-74_-55+1567del
NM_001407955.1:c.-74_-55+1567del
NM_001407956.1:c.-74_-55+1567del
NM_001407957.1:c.-74_-55+1567del
NM_001407958.1:c.-74_-55+1567del
NM_001407959.1:c.-170+9532_-169-9203del
NM_001407960.1:c.-189_-170+1567del
NM_001407962.1:c.-189_-170+1567del
NM_001407963.1:c.-170+9526_-169-9203del
NM_001407964.1:c.-27_-8+1567del
NM_001407965.1:c.-305_-286+1567del
NM_001407966.1:c.-219+9526_-219+11112del
NM_001407967.1:c.-219+9532_-219+11118del
NM_001407968.1:c.115_134+1567del
NM_001407969.1:c.115_134+1567del
NM_001407970.1:c.115_134+1567del
NM_001407971.1:c.115_134+1567del
NM_001407972.1:c.115_134+1567del
NM_001407973.1:c.115_134+1567del
NM_001407974.1:c.115_134+1567del
NM_001407975.1:c.115_134+1567del
NM_001407976.1:c.115_134+1567del
NM_001407977.1:c.115_134+1567del
NM_001407978.1:c.115_134+1567del
NM_001407979.1:c.115_134+1567del
NM_001407980.1:c.115_134+1567del
NM_001407981.1:c.115_134+1567del
NM_001407982.1:c.115_134+1567del
NM_001407983.1:c.115_134+1567del
NM_001407984.1:c.115_134+1567del
NM_001407985.1:c.115_134+1567del
NM_001407986.1:c.115_134+1567del
NM_001407990.1:c.115_134+1567del
NM_001407991.1:c.115_134+1567del
NM_001407992.1:c.115_134+1567del
NM_001407993.1:c.115_134+1567del
NM_001408392.1:c.115_134+1567del
NM_001408396.1:c.115_134+1567del
NM_001408397.1:c.115_134+1567del
NM_001408398.1:c.115_134+1567del
NM_001408399.1:c.115_134+1567del
NM_001408400.1:c.115_134+1567del
NM_001408401.1:c.115_134+1567del
NM_001408402.1:c.115_134+1567del
NM_001408403.1:c.115_134+1567del
NM_001408404.1:c.115_134+1567del
NM_001408406.1:c.115_134+1567del
NM_001408407.1:c.115_134+1567del
NM_001408408.1:c.115_134+1567del
NM_001408409.1:c.115_134+1567del
NM_001408410.1:c.-27_-8+1567del
NM_001408411.1:c.115_134+1567del
NM_001408412.1:c.115_134+1567del
NM_001408413.1:c.115_134+1567del
NM_001408414.1:c.115_134+1567del
NM_001408415.1:c.115_134+1567del
NM_001408416.1:c.115_134+1567del
NM_001408418.1:c.115_134+1567del
NM_001408419.1:c.115_134+1567del
NM_001408420.1:c.115_134+1567del
NM_001408421.1:c.115_134+1567del
NM_001408422.1:c.115_134+1567del
NM_001408423.1:c.115_134+1567del
NM_001408424.1:c.115_134+1567del
NM_001408425.1:c.115_134+1567del
NM_001408426.1:c.115_134+1567del
NM_001408427.1:c.115_134+1567del
NM_001408428.1:c.115_134+1567del
NM_001408429.1:c.115_134+1567del
NM_001408430.1:c.115_134+1567del
NM_001408431.1:c.115_134+1567del
NM_001408432.1:c.115_134+1567del
NM_001408433.1:c.115_134+1567del
NM_001408434.1:c.115_134+1567del
NM_001408435.1:c.115_134+1567del
NM_001408436.1:c.115_134+1567del
NM_001408437.1:c.115_134+1567del
NM_001408438.1:c.115_134+1567del
NM_001408439.1:c.115_134+1567del
NM_001408440.1:c.115_134+1567del
NM_001408441.1:c.115_134+1567del
NM_001408442.1:c.115_134+1567del
NM_001408443.1:c.115_134+1567del
NM_001408444.1:c.115_134+1567del
NM_001408445.1:c.115_134+1567del
NM_001408446.1:c.115_134+1567del
NM_001408447.1:c.115_134+1567del
NM_001408448.1:c.115_134+1567del
NM_001408450.1:c.115_134+1567del
NM_001408451.1:c.80+8272_81-9203del
NM_001408452.1:c.-27_-8+1567del
NM_001408453.1:c.-27_-8+1567del
NM_001408454.1:c.-8+8272_-7-7626del
NM_001408455.1:c.-143_-124+1567del
NM_001408456.1:c.-143_-124+1567del
NM_001408457.1:c.-7-9212_-7-7626del
NM_001408458.1:c.-27_-8+1567del
NM_001408459.1:c.-8+8272_-7-7626del
NM_001408460.1:c.-8+8272_-7-7626del
NM_001408461.1:c.-8+8272_-7-7626del
NM_001408462.1:c.-27_-8+1567del
NM_001408463.1:c.-27_-8+1567del
NM_001408464.1:c.-8+8272_-7-7626del
NM_001408465.1:c.-147_-128+1567del
NM_001408466.1:c.-27_-8+1567del
NM_001408467.1:c.-8+8272_-7-7626del
NM_001408468.1:c.-143_-124+1567del
NM_001408469.1:c.-27_-8+1567del
NM_001408470.1:c.-27_-8+1567del
NM_001408472.1:c.115_134+1567del
NM_001408473.1:c.115_134+1567del
NM_001408474.1:c.115_134+1567del
NM_001408475.1:c.115_134+1567del
NM_001408476.1:c.115_134+1567del
NM_001408478.1:c.-74_-55+1567del
NM_001408479.1:c.-74_-55+1567del
NM_001408480.1:c.-74_-55+1567del
NM_001408481.1:c.-74_-55+1567del
NM_001408482.1:c.-74_-55+1567del
NM_001408483.1:c.-74_-55+1567del
NM_001408484.1:c.-74_-55+1567del
NM_001408485.1:c.-74_-55+1567del
NM_001408489.1:c.-74_-55+1567del
NM_001408490.1:c.-74_-55+1567del
NM_001408491.1:c.-74_-55+1567del
NM_001408492.1:c.-190_-171+1567del
NM_001408493.1:c.-74_-55+1567del
NM_001408494.1:c.115_134+1567del
NM_001408495.1:c.115_134+1567del
NM_001408496.1:c.-8+8272_-7-7626del
NM_001408497.1:c.-27_-8+1567del
NM_001408498.1:c.-8+8272_-7-7626del
NM_001408499.1:c.-27_-8+1567del
NM_001408500.1:c.-27_-8+1567del
NM_001408501.1:c.-143_-124+1567del
NM_001408502.1:c.-74_-55+1567del
NM_001408503.1:c.-27_-8+1567del
NM_001408504.1:c.-27_-8+1567del
NM_001408505.1:c.-27_-8+1567del
NM_001408506.1:c.-74_-55+1567del
NM_001408507.1:c.-74_-55+1567del
NM_001408508.1:c.-74_-55+1567del
NM_001408509.1:c.-74_-55+1567del
NM_001408510.1:c.-189_-170+1567del
NM_001408511.1:c.-7-9212_-7-7626del
NM_001408512.1:c.-189_-170+1567del
NM_001408513.1:c.-74_-55+1567del
NM_001408514.1:c.-74_-55+1567del
NM_007294.4:c.115_134+1567delMANE SELECT
NM_007297.4:c.-8+8272_-7-7626del
NM_007298.4:c.115_134+1567del
NM_007299.4:c.115_134+1567del
NM_007300.4:c.115_134+1567del
LRG_292t1:c.115_134+1567del1587
LRG_292:g.102239_103825del
NC_000017.10:g.41266178_41267764del
NM_007294.3:c.115_134+1567del1587

Molecular consequence:

NM_001407692.1:c.-7-9212_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5813_-8+7399del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9212_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5813_-8+7399del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8272_-54-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8272_-54-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8272_-54-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9212_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9532_-169-9203del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9526_-169-9203del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9526_-219+11112del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9532_-219+11118del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8272_81-9203del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9212_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9212_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8272_-7-7626del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407581.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407582.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407583.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407585.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407587.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407590.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407591.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407593.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407594.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407596.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407597.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407598.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407602.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407603.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407605.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407610.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407611.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407612.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407613.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407614.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407615.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407616.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407617.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407618.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407619.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407620.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407621.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407622.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407623.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407624.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407625.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407626.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407627.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407628.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407629.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407630.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407631.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407632.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407633.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407634.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407635.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407636.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407637.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407638.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407639.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407640.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407641.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407642.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407644.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407645.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407646.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407647.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407648.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407649.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407652.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407653.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407654.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407655.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407656.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407657.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407658.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407659.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407660.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407661.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407662.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407663.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407664.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407665.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407666.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407667.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407668.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407669.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407670.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407671.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407672.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407673.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407674.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407675.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407676.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407677.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407678.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407679.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407680.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407681.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407682.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407683.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407684.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407685.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407686.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407687.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407688.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407689.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407690.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407691.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407694.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407695.1:c.-147_-127-1553del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407696.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407697.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407724.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407725.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407727.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407728.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407729.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407730.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407731.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407733.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407734.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407735.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407737.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407739.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407740.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407741.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407743.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407745.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407746.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407748.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407749.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407752.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407838.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407839.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407841.1:c.-23_-8+1571del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407842.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407843.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407844.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407846.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407847.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407848.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407850.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407851.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407853.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407854.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407858.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407859.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407860.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407861.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407862.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407863.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407874.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407875.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407879.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407882.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407884.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407885.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407886.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407887.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407889.1:c.-190_-170-1557del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407894.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407895.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407896.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407897.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407899.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407900.1:c.-190_-171+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407904.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407906.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407907.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407908.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407909.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407910.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407915.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407916.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407917.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407918.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407919.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407920.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407921.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407922.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407923.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407926.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407927.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407930.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407933.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407934.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407935.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407937.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407938.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407939.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407940.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407941.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407942.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407943.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407944.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407946.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407947.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407948.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407949.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407950.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407951.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407952.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407953.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407954.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407955.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407956.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407957.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407958.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407960.1:c.-189_-170+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407962.1:c.-189_-170+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407964.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407965.1:c.-305_-286+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407968.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407970.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407971.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407972.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407973.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407974.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407975.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407976.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407977.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407978.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407979.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407980.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407981.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407982.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407983.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407984.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407985.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407986.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407990.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407991.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407992.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407993.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408392.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408396.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408397.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408398.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408399.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408400.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408401.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408402.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408403.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408404.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408406.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408407.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408408.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408409.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408410.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408411.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408412.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408413.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408414.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408415.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408416.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408418.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408419.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408420.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408421.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408422.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408423.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408424.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408425.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408426.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408427.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408428.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408429.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408430.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408431.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408432.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408433.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408434.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408435.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408436.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408437.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408438.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408439.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408440.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408441.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408442.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408443.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408444.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408445.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408446.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408447.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408448.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408450.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408452.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408453.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408455.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408456.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408458.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408462.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408463.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408465.1:c.-147_-128+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408466.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408468.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408469.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408470.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408472.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408473.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408474.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408475.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408476.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408478.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408479.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408480.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408481.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408482.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408483.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408484.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408485.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408489.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408490.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408491.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408492.1:c.-190_-171+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408493.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408494.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408495.1:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408497.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408499.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408500.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408501.1:c.-143_-124+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408502.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408503.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408504.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408505.1:c.-27_-8+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408506.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408507.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408508.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408509.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408510.1:c.-189_-170+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408512.1:c.-189_-170+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408513.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408514.1:c.-74_-55+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.4:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.115_134+1567del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.115_134+1567del - 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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Caladenia denticulata
Caladenia denticulata
Caladenia denticulata floral transcriptome

BioProject
VP2 [Bocaparvovirus primate1]
VP2 [Bocaparvovirus primate1]
gi|77125240|ref|YP_338089.1|

Protein
Mus musculus in vitro fertilized eggs cDNA, RIKEN full-length enriched library, ...
Mus musculus in vitro fertilized eggs cDNA, RIKEN full-length enriched library, clone:7420455O04 product:Similar to CG8500 gene product (Di-Ras2) homolog [Homo sapiens], full insert sequence
gi|74193762|dbj|AK136096.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002619155	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002619155

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 29, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002619155.2

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

Description

The c.115_134+1567del1587 pathogenic mutation results from a deletion of 1587 nucleotides between positions c.115 and c.134+1567 and involves the canonical splice donor site after coding exon 2 of the BRCA1 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. Other alterations impacting the same donor site (c.134+1G>A, c.134+2T>C) have been shown to result in aberrant splicing resulting in coding exon 2 skipping and were non-functional in a high-throughput, genome editing, haploid cell survival assay (Ambry internal data; Houdayer C. et al Hum Mutat. 2012 Aug;33(8):1228-38; Findlay GM et al. Nature, 2018 10;562:217-222). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine