NM_007294.4(BRCA1):c.81-2del AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 19, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000573231.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-2del]

NM_007294.4(BRCA1):c.81-2del

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.81-2del

Other names:

IVS2-2delA

HGVS:

NC_000017.11:g.43115781del
NG_005905.2:g.102203del
NM_001407571.1:c.-108-2del
NM_001407581.1:c.81-2del
NM_001407582.1:c.81-2del
NM_001407583.1:c.81-2del
NM_001407585.1:c.81-2del
NM_001407587.1:c.81-2del
NM_001407590.1:c.81-2del
NM_001407591.1:c.81-2del
NM_001407593.1:c.81-2del
NM_001407594.1:c.81-2del
NM_001407596.1:c.81-2del
NM_001407597.1:c.81-2del
NM_001407598.1:c.81-2del
NM_001407602.1:c.81-2del
NM_001407603.1:c.81-2del
NM_001407605.1:c.81-2del
NM_001407610.1:c.81-2del
NM_001407611.1:c.81-2del
NM_001407612.1:c.81-2del
NM_001407613.1:c.81-2del
NM_001407614.1:c.81-2del
NM_001407615.1:c.81-2del
NM_001407616.1:c.81-2del
NM_001407617.1:c.81-2del
NM_001407618.1:c.81-2del
NM_001407619.1:c.81-2del
NM_001407620.1:c.81-2del
NM_001407621.1:c.81-2del
NM_001407622.1:c.81-2del
NM_001407623.1:c.81-2del
NM_001407624.1:c.81-2del
NM_001407625.1:c.81-2del
NM_001407626.1:c.81-2del
NM_001407627.1:c.81-2del
NM_001407628.1:c.81-2del
NM_001407629.1:c.81-2del
NM_001407630.1:c.81-2del
NM_001407631.1:c.81-2del
NM_001407632.1:c.81-2del
NM_001407633.1:c.81-2del
NM_001407634.1:c.81-2del
NM_001407635.1:c.81-2del
NM_001407636.1:c.81-2del
NM_001407637.1:c.81-2del
NM_001407638.1:c.81-2del
NM_001407639.1:c.81-2del
NM_001407640.1:c.81-2del
NM_001407641.1:c.81-2del
NM_001407642.1:c.81-2del
NM_001407644.1:c.81-2del
NM_001407645.1:c.81-2del
NM_001407646.1:c.81-2del
NM_001407647.1:c.81-2del
NM_001407648.1:c.81-2del
NM_001407649.1:c.81-2del
NM_001407652.1:c.81-2del
NM_001407653.1:c.81-2del
NM_001407654.1:c.81-2del
NM_001407655.1:c.81-2del
NM_001407656.1:c.81-2del
NM_001407657.1:c.81-2del
NM_001407658.1:c.81-2del
NM_001407659.1:c.81-2del
NM_001407660.1:c.81-2del
NM_001407661.1:c.81-2del
NM_001407662.1:c.81-2del
NM_001407663.1:c.81-2del
NM_001407664.1:c.81-2del
NM_001407665.1:c.81-2del
NM_001407666.1:c.81-2del
NM_001407667.1:c.81-2del
NM_001407668.1:c.81-2del
NM_001407669.1:c.81-2del
NM_001407670.1:c.81-2del
NM_001407671.1:c.81-2del
NM_001407672.1:c.81-2del
NM_001407673.1:c.81-2del
NM_001407674.1:c.81-2del
NM_001407675.1:c.81-2del
NM_001407676.1:c.81-2del
NM_001407677.1:c.81-2del
NM_001407678.1:c.81-2del
NM_001407679.1:c.81-2del
NM_001407680.1:c.81-2del
NM_001407681.1:c.81-2del
NM_001407682.1:c.81-2del
NM_001407683.1:c.81-2del
NM_001407684.1:c.81-2del
NM_001407685.1:c.81-2del
NM_001407686.1:c.81-2del
NM_001407687.1:c.81-2del
NM_001407688.1:c.81-2del
NM_001407689.1:c.81-2del
NM_001407690.1:c.81-2del
NM_001407691.1:c.81-2del
NM_001407692.1:c.-7-9248del
NM_001407694.1:c.-177-2del
NM_001407695.1:c.-181-2del
NM_001407696.1:c.-177-2del
NM_001407697.1:c.-61-2del
NM_001407698.1:c.-8+8236del
NM_001407724.1:c.-177-2del
NM_001407725.1:c.-61-2del
NM_001407726.1:c.-8+5777del
NM_001407727.1:c.-177-2del
NM_001407728.1:c.-61-2del
NM_001407729.1:c.-61-2del
NM_001407730.1:c.-61-2del
NM_001407731.1:c.-177-2del
NM_001407732.1:c.-8+8236del
NM_001407733.1:c.-177-2del
NM_001407734.1:c.-61-2del
NM_001407735.1:c.-61-2del
NM_001407736.1:c.-8+8236del
NM_001407737.1:c.-61-2del
NM_001407738.1:c.-8+8236del
NM_001407739.1:c.-61-2del
NM_001407740.1:c.-61-2del
NM_001407741.1:c.-61-2del
NM_001407742.1:c.-8+8236del
NM_001407743.1:c.-61-2del
NM_001407744.1:c.-8+8236del
NM_001407745.1:c.-61-2del
NM_001407746.1:c.-177-2del
NM_001407747.1:c.-7-9248del
NM_001407748.1:c.-61-2del
NM_001407749.1:c.-177-2del
NM_001407750.1:c.-8+8236del
NM_001407751.1:c.-8+5777del
NM_001407752.1:c.-61-2del
NM_001407838.1:c.-61-2del
NM_001407839.1:c.-61-2del
NM_001407841.1:c.-57-2del
NM_001407842.1:c.-177-2del
NM_001407843.1:c.-177-2del
NM_001407844.1:c.-61-2del
NM_001407845.1:c.-8+8236del
NM_001407846.1:c.-61-2del
NM_001407847.1:c.-61-2del
NM_001407848.1:c.-61-2del
NM_001407849.1:c.-8+8236del
NM_001407850.1:c.-61-2del
NM_001407851.1:c.-61-2del
NM_001407852.1:c.-8+8236del
NM_001407853.1:c.-108-2del
NM_001407854.1:c.81-2del
NM_001407858.1:c.81-2del
NM_001407859.1:c.81-2del
NM_001407860.1:c.81-2del
NM_001407861.1:c.81-2del
NM_001407862.1:c.81-2del
NM_001407863.1:c.81-2del
NM_001407874.1:c.81-2del
NM_001407875.1:c.81-2del
NM_001407879.1:c.-108-2del
NM_001407881.1:c.-55+8236del
NM_001407882.1:c.-108-2del
NM_001407884.1:c.-108-2del
NM_001407885.1:c.-108-2del
NM_001407886.1:c.-108-2del
NM_001407887.1:c.-108-2del
NM_001407889.1:c.-224-2del
NM_001407894.1:c.-108-2del
NM_001407895.1:c.-108-2del
NM_001407896.1:c.-108-2del
NM_001407897.1:c.-108-2del
NM_001407898.1:c.-55+8236del
NM_001407899.1:c.-108-2del
NM_001407900.1:c.-224-2del
NM_001407902.1:c.-55+8236del
NM_001407904.1:c.-108-2del
NM_001407906.1:c.-108-2del
NM_001407907.1:c.-108-2del
NM_001407908.1:c.-108-2del
NM_001407909.1:c.-108-2del
NM_001407910.1:c.-108-2del
NM_001407915.1:c.-108-2del
NM_001407916.1:c.-108-2del
NM_001407917.1:c.-108-2del
NM_001407918.1:c.-108-2del
NM_001407919.1:c.81-2del
NM_001407920.1:c.-61-2del
NM_001407921.1:c.-61-2del
NM_001407922.1:c.-61-2del
NM_001407923.1:c.-61-2del
NM_001407924.1:c.-8+8236del
NM_001407925.1:c.-8+8236del
NM_001407926.1:c.-61-2del
NM_001407927.1:c.-61-2del
NM_001407928.1:c.-8+8236del
NM_001407929.1:c.-8+8236del
NM_001407930.1:c.-177-2del
NM_001407931.1:c.-7-9248del
NM_001407932.1:c.-8+8236del
NM_001407933.1:c.-61-2del
NM_001407934.1:c.-61-2del
NM_001407935.1:c.-61-2del
NM_001407936.1:c.-8+8236del
NM_001407937.1:c.81-2del
NM_001407938.1:c.81-2del
NM_001407939.1:c.81-2del
NM_001407940.1:c.81-2del
NM_001407941.1:c.81-2del
NM_001407942.1:c.-177-2del
NM_001407943.1:c.-61-2del
NM_001407944.1:c.-61-2del
NM_001407945.1:c.-8+8236del
NM_001407946.1:c.-108-2del
NM_001407947.1:c.-108-2del
NM_001407948.1:c.-108-2del
NM_001407949.1:c.-108-2del
NM_001407950.1:c.-108-2del
NM_001407951.1:c.-108-2del
NM_001407952.1:c.-108-2del
NM_001407953.1:c.-108-2del
NM_001407954.1:c.-108-2del
NM_001407955.1:c.-108-2del
NM_001407956.1:c.-108-2del
NM_001407957.1:c.-108-2del
NM_001407958.1:c.-108-2del
NM_001407959.1:c.-170+9496del
NM_001407960.1:c.-223-2del
NM_001407962.1:c.-223-2del
NM_001407963.1:c.-170+9490del
NM_001407964.1:c.-61-2del
NM_001407965.1:c.-339-2del
NM_001407966.1:c.-219+9490del
NM_001407967.1:c.-219+9496del
NM_001407968.1:c.81-2del
NM_001407969.1:c.81-2del
NM_001407970.1:c.81-2del
NM_001407971.1:c.81-2del
NM_001407972.1:c.81-2del
NM_001407973.1:c.81-2del
NM_001407974.1:c.81-2del
NM_001407975.1:c.81-2del
NM_001407976.1:c.81-2del
NM_001407977.1:c.81-2del
NM_001407978.1:c.81-2del
NM_001407979.1:c.81-2del
NM_001407980.1:c.81-2del
NM_001407981.1:c.81-2del
NM_001407982.1:c.81-2del
NM_001407983.1:c.81-2del
NM_001407984.1:c.81-2del
NM_001407985.1:c.81-2del
NM_001407986.1:c.81-2del
NM_001407990.1:c.81-2del
NM_001407991.1:c.81-2del
NM_001407992.1:c.81-2del
NM_001407993.1:c.81-2del
NM_001408392.1:c.81-2del
NM_001408396.1:c.81-2del
NM_001408397.1:c.81-2del
NM_001408398.1:c.81-2del
NM_001408399.1:c.81-2del
NM_001408400.1:c.81-2del
NM_001408401.1:c.81-2del
NM_001408402.1:c.81-2del
NM_001408403.1:c.81-2del
NM_001408404.1:c.81-2del
NM_001408406.1:c.81-2del
NM_001408407.1:c.81-2del
NM_001408408.1:c.81-2del
NM_001408409.1:c.81-2del
NM_001408410.1:c.-61-2del
NM_001408411.1:c.81-2del
NM_001408412.1:c.81-2del
NM_001408413.1:c.81-2del
NM_001408414.1:c.81-2del
NM_001408415.1:c.81-2del
NM_001408416.1:c.81-2del
NM_001408418.1:c.81-2del
NM_001408419.1:c.81-2del
NM_001408420.1:c.81-2del
NM_001408421.1:c.81-2del
NM_001408422.1:c.81-2del
NM_001408423.1:c.81-2del
NM_001408424.1:c.81-2del
NM_001408425.1:c.81-2del
NM_001408426.1:c.81-2del
NM_001408427.1:c.81-2del
NM_001408428.1:c.81-2del
NM_001408429.1:c.81-2del
NM_001408430.1:c.81-2del
NM_001408431.1:c.81-2del
NM_001408432.1:c.81-2del
NM_001408433.1:c.81-2del
NM_001408434.1:c.81-2del
NM_001408435.1:c.81-2del
NM_001408436.1:c.81-2del
NM_001408437.1:c.81-2del
NM_001408438.1:c.81-2del
NM_001408439.1:c.81-2del
NM_001408440.1:c.81-2del
NM_001408441.1:c.81-2del
NM_001408442.1:c.81-2del
NM_001408443.1:c.81-2del
NM_001408444.1:c.81-2del
NM_001408445.1:c.81-2del
NM_001408446.1:c.81-2del
NM_001408447.1:c.81-2del
NM_001408448.1:c.81-2del
NM_001408450.1:c.81-2del
NM_001408451.1:c.80+8236del
NM_001408452.1:c.-61-2del
NM_001408453.1:c.-61-2del
NM_001408454.1:c.-8+8236del
NM_001408455.1:c.-177-2del
NM_001408456.1:c.-177-2del
NM_001408457.1:c.-7-9248del
NM_001408458.1:c.-61-2del
NM_001408459.1:c.-8+8236del
NM_001408460.1:c.-8+8236del
NM_001408461.1:c.-8+8236del
NM_001408462.1:c.-61-2del
NM_001408463.1:c.-61-2del
NM_001408464.1:c.-8+8236del
NM_001408465.1:c.-181-2del
NM_001408466.1:c.-61-2del
NM_001408467.1:c.-8+8236del
NM_001408468.1:c.-177-2del
NM_001408469.1:c.-61-2del
NM_001408470.1:c.-61-2del
NM_001408472.1:c.81-2del
NM_001408473.1:c.81-2del
NM_001408474.1:c.81-2del
NM_001408475.1:c.81-2del
NM_001408476.1:c.81-2del
NM_001408478.1:c.-108-2del
NM_001408479.1:c.-108-2del
NM_001408480.1:c.-108-2del
NM_001408481.1:c.-108-2del
NM_001408482.1:c.-108-2del
NM_001408483.1:c.-108-2del
NM_001408484.1:c.-108-2del
NM_001408485.1:c.-108-2del
NM_001408489.1:c.-108-2del
NM_001408490.1:c.-108-2del
NM_001408491.1:c.-108-2del
NM_001408492.1:c.-224-2del
NM_001408493.1:c.-108-2del
NM_001408494.1:c.81-2del
NM_001408495.1:c.81-2del
NM_001408496.1:c.-8+8236del
NM_001408497.1:c.-61-2del
NM_001408498.1:c.-8+8236del
NM_001408499.1:c.-61-2del
NM_001408500.1:c.-61-2del
NM_001408501.1:c.-177-2del
NM_001408502.1:c.-108-2del
NM_001408503.1:c.-61-2del
NM_001408504.1:c.-61-2del
NM_001408505.1:c.-61-2del
NM_001408506.1:c.-108-2del
NM_001408507.1:c.-108-2del
NM_001408508.1:c.-108-2del
NM_001408509.1:c.-108-2del
NM_001408510.1:c.-223-2del
NM_001408511.1:c.-7-9248del
NM_001408512.1:c.-223-2del
NM_001408513.1:c.-108-2del
NM_001408514.1:c.-108-2del
NM_007294.4:c.81-2delMANE SELECT
NM_007297.4:c.-8+8236del
NM_007298.4:c.81-2del
NM_007299.4:c.81-2del
NM_007300.4:c.81-2del
LRG_292t1:c.81-2del
LRG_292:g.102203del
NC_000017.10:g.41267798del
NM_007294.3:c.81-2del
NM_007294.3:c.81-2delA
U14680.1:n.200-2delA

Links:

Breast Cancer Information Core (BIC) (BRCA1): 200-2&base_change=del A; dbSNP: rs273902791

NCBI 1000 Genomes Browser:

rs273902791

Molecular consequence:

NM_001407692.1:c.-7-9248del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5777del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9248del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5777del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9248del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9496del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9496del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9248del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9248del - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8236del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407581.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407582.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407583.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407585.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407587.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407590.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407591.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407593.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407594.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407596.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407597.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407598.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407602.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407603.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407605.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407610.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407611.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407612.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407613.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407614.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407615.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407616.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407617.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407618.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407619.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407620.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407621.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407622.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407623.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407624.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407625.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407626.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407627.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407628.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407629.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407630.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407631.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407632.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407633.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407634.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407635.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407636.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407637.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407638.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407639.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407640.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407641.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407642.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407644.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407645.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407646.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407647.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407648.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407649.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407652.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407653.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407654.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407655.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407656.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407657.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407658.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407659.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407660.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407661.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407662.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407663.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407664.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407665.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407666.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407667.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407668.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407669.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407670.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407671.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407672.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407673.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407674.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407675.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407676.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407677.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407678.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407679.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407680.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407681.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407682.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407683.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407684.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407685.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407686.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407687.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407688.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407689.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407690.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407691.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407694.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407695.1:c.-181-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407696.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407697.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407724.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407725.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407727.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407728.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407729.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407730.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407731.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407733.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407734.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407735.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407737.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407739.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407740.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407741.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407743.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407745.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407746.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407748.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407749.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407752.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407838.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407839.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407841.1:c.-57-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407842.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407843.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407844.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407846.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407847.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407848.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407850.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407851.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407853.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407854.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407858.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407859.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407860.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407861.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407862.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407863.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407874.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407875.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407879.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407882.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407884.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407885.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407886.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407887.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407889.1:c.-224-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407894.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407895.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407896.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407897.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407899.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407900.1:c.-224-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407904.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407906.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407907.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407908.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407909.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407910.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407915.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407916.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407917.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407918.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407919.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407920.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407921.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407922.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407923.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407926.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407927.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407930.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407933.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407934.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407935.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407937.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407938.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407939.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407940.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407941.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407942.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407943.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407944.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407946.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407947.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407948.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407949.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407950.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407951.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407952.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407953.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407954.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407955.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407956.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407957.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407958.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407960.1:c.-223-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407962.1:c.-223-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407964.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407965.1:c.-339-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407968.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407969.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407970.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407971.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407972.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407973.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407974.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407975.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407976.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407977.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407978.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407979.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407980.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407981.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407982.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407983.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407984.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407985.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407986.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407990.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407991.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407992.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407993.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408392.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408396.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408397.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408398.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408399.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408400.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408401.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408402.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408403.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408404.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408406.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408407.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408408.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408409.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408410.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408411.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408412.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408413.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408414.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408415.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408416.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408418.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408419.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408420.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408421.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408422.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408423.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408424.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408425.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408426.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408427.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408428.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408429.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408430.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408431.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408432.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408433.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408434.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408435.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408436.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408437.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408438.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408439.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408440.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408441.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408442.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408443.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408444.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408445.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408446.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408447.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408448.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408450.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408452.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408453.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408455.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408456.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408458.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408462.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408463.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408465.1:c.-181-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408466.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408468.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408469.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408470.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408472.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408473.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408474.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408475.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408476.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408478.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408479.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408480.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408481.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408482.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408483.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408484.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408485.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408489.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408490.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408491.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408492.1:c.-224-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408493.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408494.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408495.1:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408497.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408499.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408500.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408501.1:c.-177-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408502.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408503.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408504.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408505.1:c.-61-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408506.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408507.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408508.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408509.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408510.1:c.-223-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408512.1:c.-223-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408513.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408514.1:c.-108-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007294.4:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007298.4:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007299.4:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007300.4:c.81-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000668500	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 6, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15066328, 22505045 Citation Link,
SCV001356625	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 19, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000668500

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 6, 2017)

germline

clinical testing

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

Citation Link,

SCV001356625

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 19, 2021)

germline

clinical testing

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

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

Citations

PubMed

BRCA1 IVS2-2delA: a deleterious mutation in a family of Asian descent.

Martin ES, Croce CM, Biggs DD, Martin SE.

Cancer Genet Cytogenet. 2004 Apr 15;150(2):173-5. No abstract available.

PubMed [citation]

PMID:: 15066328

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, et al.

Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11.

PubMed [citation]

PMID:: 22505045

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000668500.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.81-2delA intronic pathogenic mutation results from the deletion of one nucleotide two nucleotides upstream from coding exon 2 in the BRCA1 gene. This mutation (designated as IVS2-2delA) was reported in a Filipino family with breast and ovarian cancer. RT-PCR studies showed that this intronic nucleotide deletion abolishes the native splice acceptor site and creates a subsequent frameshift, causing a premature stop codon in BRCA1 (Ambry internal data; Martin ES et al. Cancer Genet. Cytogenet. 2004 Apr;150:173-5). In addition to the clinical data presented in the literature, 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. As such, this alteration is classified 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

From Color Diagnostics, LLC DBA Color Health, SCV001356625.2

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

Description

This variant deletes a nucleotide at the -2 position of intron 2 of the BRCA1 gene. An RNA study has shown that this variant causes skipping of exon 3, creating a premature translation stop signal (PMID: 15066328). This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 15066328, 25556971; Color internal data). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#	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: Oct 8, 2024

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