NM_007294.4(BRCA1):c.134+1G>T AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 24, 2018
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:: RCV001010943.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.134+1G>T]

NM_007294.4(BRCA1):c.134+1G>T

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.134+1G>T

Other names:

IVS3+1G>T

HGVS:

NC_000017.11:g.43115725C>A
NG_005905.2:g.102259G>T
NM_001407571.1:c.-55+1G>T
NM_001407581.1:c.134+1G>T
NM_001407582.1:c.134+1G>T
NM_001407583.1:c.134+1G>T
NM_001407585.1:c.134+1G>T
NM_001407587.1:c.134+1G>T
NM_001407590.1:c.134+1G>T
NM_001407591.1:c.134+1G>T
NM_001407593.1:c.134+1G>T
NM_001407594.1:c.134+1G>T
NM_001407596.1:c.134+1G>T
NM_001407597.1:c.134+1G>T
NM_001407598.1:c.134+1G>T
NM_001407602.1:c.134+1G>T
NM_001407603.1:c.134+1G>T
NM_001407605.1:c.134+1G>T
NM_001407610.1:c.134+1G>T
NM_001407611.1:c.134+1G>T
NM_001407612.1:c.134+1G>T
NM_001407613.1:c.134+1G>T
NM_001407614.1:c.134+1G>T
NM_001407615.1:c.134+1G>T
NM_001407616.1:c.134+1G>T
NM_001407617.1:c.134+1G>T
NM_001407618.1:c.134+1G>T
NM_001407619.1:c.134+1G>T
NM_001407620.1:c.134+1G>T
NM_001407621.1:c.134+1G>T
NM_001407622.1:c.134+1G>T
NM_001407623.1:c.134+1G>T
NM_001407624.1:c.134+1G>T
NM_001407625.1:c.134+1G>T
NM_001407626.1:c.134+1G>T
NM_001407627.1:c.134+1G>T
NM_001407628.1:c.134+1G>T
NM_001407629.1:c.134+1G>T
NM_001407630.1:c.134+1G>T
NM_001407631.1:c.134+1G>T
NM_001407632.1:c.134+1G>T
NM_001407633.1:c.134+1G>T
NM_001407634.1:c.134+1G>T
NM_001407635.1:c.134+1G>T
NM_001407636.1:c.134+1G>T
NM_001407637.1:c.134+1G>T
NM_001407638.1:c.134+1G>T
NM_001407639.1:c.134+1G>T
NM_001407640.1:c.134+1G>T
NM_001407641.1:c.134+1G>T
NM_001407642.1:c.134+1G>T
NM_001407644.1:c.134+1G>T
NM_001407645.1:c.134+1G>T
NM_001407646.1:c.134+1G>T
NM_001407647.1:c.134+1G>T
NM_001407648.1:c.134+1G>T
NM_001407649.1:c.134+1G>T
NM_001407652.1:c.134+1G>T
NM_001407653.1:c.134+1G>T
NM_001407654.1:c.134+1G>T
NM_001407655.1:c.134+1G>T
NM_001407656.1:c.134+1G>T
NM_001407657.1:c.134+1G>T
NM_001407658.1:c.134+1G>T
NM_001407659.1:c.134+1G>T
NM_001407660.1:c.134+1G>T
NM_001407661.1:c.134+1G>T
NM_001407662.1:c.134+1G>T
NM_001407663.1:c.134+1G>T
NM_001407664.1:c.134+1G>T
NM_001407665.1:c.134+1G>T
NM_001407666.1:c.134+1G>T
NM_001407667.1:c.134+1G>T
NM_001407668.1:c.134+1G>T
NM_001407669.1:c.134+1G>T
NM_001407670.1:c.134+1G>T
NM_001407671.1:c.134+1G>T
NM_001407672.1:c.134+1G>T
NM_001407673.1:c.134+1G>T
NM_001407674.1:c.134+1G>T
NM_001407675.1:c.134+1G>T
NM_001407676.1:c.134+1G>T
NM_001407677.1:c.134+1G>T
NM_001407678.1:c.134+1G>T
NM_001407679.1:c.134+1G>T
NM_001407680.1:c.134+1G>T
NM_001407681.1:c.134+1G>T
NM_001407682.1:c.134+1G>T
NM_001407683.1:c.134+1G>T
NM_001407684.1:c.134+1G>T
NM_001407685.1:c.134+1G>T
NM_001407686.1:c.134+1G>T
NM_001407687.1:c.134+1G>T
NM_001407688.1:c.134+1G>T
NM_001407689.1:c.134+1G>T
NM_001407690.1:c.134+1G>T
NM_001407691.1:c.134+1G>T
NM_001407692.1:c.-7-9192G>T
NM_001407694.1:c.-124+1G>T
NM_001407695.1:c.-128+1G>T
NM_001407696.1:c.-124+1G>T
NM_001407697.1:c.-8+1G>T
NM_001407698.1:c.-8+8292G>T
NM_001407724.1:c.-124+1G>T
NM_001407725.1:c.-8+1G>T
NM_001407726.1:c.-8+5833G>T
NM_001407727.1:c.-124+1G>T
NM_001407728.1:c.-8+1G>T
NM_001407729.1:c.-8+1G>T
NM_001407730.1:c.-8+1G>T
NM_001407731.1:c.-124+1G>T
NM_001407732.1:c.-8+8292G>T
NM_001407733.1:c.-124+1G>T
NM_001407734.1:c.-8+1G>T
NM_001407735.1:c.-8+1G>T
NM_001407736.1:c.-8+8292G>T
NM_001407737.1:c.-8+1G>T
NM_001407738.1:c.-8+8292G>T
NM_001407739.1:c.-8+1G>T
NM_001407740.1:c.-8+1G>T
NM_001407741.1:c.-8+1G>T
NM_001407742.1:c.-8+8292G>T
NM_001407743.1:c.-8+1G>T
NM_001407744.1:c.-8+8292G>T
NM_001407745.1:c.-8+1G>T
NM_001407746.1:c.-124+1G>T
NM_001407747.1:c.-7-9192G>T
NM_001407748.1:c.-8+1G>T
NM_001407749.1:c.-124+1G>T
NM_001407750.1:c.-8+8292G>T
NM_001407751.1:c.-8+5833G>T
NM_001407752.1:c.-8+1G>T
NM_001407838.1:c.-8+1G>T
NM_001407839.1:c.-8+1G>T
NM_001407841.1:c.-8+5G>T
NM_001407842.1:c.-124+1G>T
NM_001407843.1:c.-124+1G>T
NM_001407844.1:c.-8+1G>T
NM_001407845.1:c.-8+8292G>T
NM_001407846.1:c.-8+1G>T
NM_001407847.1:c.-8+1G>T
NM_001407848.1:c.-8+1G>T
NM_001407849.1:c.-8+8292G>T
NM_001407850.1:c.-8+1G>T
NM_001407851.1:c.-8+1G>T
NM_001407852.1:c.-8+8292G>T
NM_001407853.1:c.-55+1G>T
NM_001407854.1:c.134+1G>T
NM_001407858.1:c.134+1G>T
NM_001407859.1:c.134+1G>T
NM_001407860.1:c.134+1G>T
NM_001407861.1:c.134+1G>T
NM_001407862.1:c.134+1G>T
NM_001407863.1:c.134+1G>T
NM_001407874.1:c.134+1G>T
NM_001407875.1:c.134+1G>T
NM_001407879.1:c.-55+1G>T
NM_001407881.1:c.-55+8292G>T
NM_001407882.1:c.-55+1G>T
NM_001407884.1:c.-55+1G>T
NM_001407885.1:c.-55+1G>T
NM_001407886.1:c.-55+1G>T
NM_001407887.1:c.-55+1G>T
NM_001407889.1:c.-171+1G>T
NM_001407894.1:c.-55+1G>T
NM_001407895.1:c.-55+1G>T
NM_001407896.1:c.-55+1G>T
NM_001407897.1:c.-55+1G>T
NM_001407898.1:c.-55+8292G>T
NM_001407899.1:c.-55+1G>T
NM_001407900.1:c.-171+1G>T
NM_001407902.1:c.-55+8292G>T
NM_001407904.1:c.-55+1G>T
NM_001407906.1:c.-55+1G>T
NM_001407907.1:c.-55+1G>T
NM_001407908.1:c.-55+1G>T
NM_001407909.1:c.-55+1G>T
NM_001407910.1:c.-55+1G>T
NM_001407915.1:c.-55+1G>T
NM_001407916.1:c.-55+1G>T
NM_001407917.1:c.-55+1G>T
NM_001407918.1:c.-55+1G>T
NM_001407919.1:c.134+1G>T
NM_001407920.1:c.-8+1G>T
NM_001407921.1:c.-8+1G>T
NM_001407922.1:c.-8+1G>T
NM_001407923.1:c.-8+1G>T
NM_001407924.1:c.-8+8292G>T
NM_001407925.1:c.-8+8292G>T
NM_001407926.1:c.-8+1G>T
NM_001407927.1:c.-8+1G>T
NM_001407928.1:c.-8+8292G>T
NM_001407929.1:c.-8+8292G>T
NM_001407930.1:c.-124+1G>T
NM_001407931.1:c.-7-9192G>T
NM_001407932.1:c.-8+8292G>T
NM_001407933.1:c.-8+1G>T
NM_001407934.1:c.-8+1G>T
NM_001407935.1:c.-8+1G>T
NM_001407936.1:c.-8+8292G>T
NM_001407937.1:c.134+1G>T
NM_001407938.1:c.134+1G>T
NM_001407939.1:c.134+1G>T
NM_001407940.1:c.134+1G>T
NM_001407941.1:c.134+1G>T
NM_001407942.1:c.-124+1G>T
NM_001407943.1:c.-8+1G>T
NM_001407944.1:c.-8+1G>T
NM_001407945.1:c.-8+8292G>T
NM_001407946.1:c.-55+1G>T
NM_001407947.1:c.-55+1G>T
NM_001407948.1:c.-55+1G>T
NM_001407949.1:c.-55+1G>T
NM_001407950.1:c.-55+1G>T
NM_001407951.1:c.-55+1G>T
NM_001407952.1:c.-55+1G>T
NM_001407953.1:c.-55+1G>T
NM_001407954.1:c.-55+1G>T
NM_001407955.1:c.-55+1G>T
NM_001407956.1:c.-55+1G>T
NM_001407957.1:c.-55+1G>T
NM_001407958.1:c.-55+1G>T
NM_001407959.1:c.-170+9552G>T
NM_001407960.1:c.-170+1G>T
NM_001407962.1:c.-170+1G>T
NM_001407963.1:c.-170+9546G>T
NM_001407964.1:c.-8+1G>T
NM_001407965.1:c.-286+1G>T
NM_001407966.1:c.-219+9546G>T
NM_001407967.1:c.-219+9552G>T
NM_001407968.1:c.134+1G>T
NM_001407969.1:c.134+1G>T
NM_001407970.1:c.134+1G>T
NM_001407971.1:c.134+1G>T
NM_001407972.1:c.134+1G>T
NM_001407973.1:c.134+1G>T
NM_001407974.1:c.134+1G>T
NM_001407975.1:c.134+1G>T
NM_001407976.1:c.134+1G>T
NM_001407977.1:c.134+1G>T
NM_001407978.1:c.134+1G>T
NM_001407979.1:c.134+1G>T
NM_001407980.1:c.134+1G>T
NM_001407981.1:c.134+1G>T
NM_001407982.1:c.134+1G>T
NM_001407983.1:c.134+1G>T
NM_001407984.1:c.134+1G>T
NM_001407985.1:c.134+1G>T
NM_001407986.1:c.134+1G>T
NM_001407990.1:c.134+1G>T
NM_001407991.1:c.134+1G>T
NM_001407992.1:c.134+1G>T
NM_001407993.1:c.134+1G>T
NM_001408392.1:c.134+1G>T
NM_001408396.1:c.134+1G>T
NM_001408397.1:c.134+1G>T
NM_001408398.1:c.134+1G>T
NM_001408399.1:c.134+1G>T
NM_001408400.1:c.134+1G>T
NM_001408401.1:c.134+1G>T
NM_001408402.1:c.134+1G>T
NM_001408403.1:c.134+1G>T
NM_001408404.1:c.134+1G>T
NM_001408406.1:c.134+1G>T
NM_001408407.1:c.134+1G>T
NM_001408408.1:c.134+1G>T
NM_001408409.1:c.134+1G>T
NM_001408410.1:c.-8+1G>T
NM_001408411.1:c.134+1G>T
NM_001408412.1:c.134+1G>T
NM_001408413.1:c.134+1G>T
NM_001408414.1:c.134+1G>T
NM_001408415.1:c.134+1G>T
NM_001408416.1:c.134+1G>T
NM_001408418.1:c.134+1G>T
NM_001408419.1:c.134+1G>T
NM_001408420.1:c.134+1G>T
NM_001408421.1:c.134+1G>T
NM_001408422.1:c.134+1G>T
NM_001408423.1:c.134+1G>T
NM_001408424.1:c.134+1G>T
NM_001408425.1:c.134+1G>T
NM_001408426.1:c.134+1G>T
NM_001408427.1:c.134+1G>T
NM_001408428.1:c.134+1G>T
NM_001408429.1:c.134+1G>T
NM_001408430.1:c.134+1G>T
NM_001408431.1:c.134+1G>T
NM_001408432.1:c.134+1G>T
NM_001408433.1:c.134+1G>T
NM_001408434.1:c.134+1G>T
NM_001408435.1:c.134+1G>T
NM_001408436.1:c.134+1G>T
NM_001408437.1:c.134+1G>T
NM_001408438.1:c.134+1G>T
NM_001408439.1:c.134+1G>T
NM_001408440.1:c.134+1G>T
NM_001408441.1:c.134+1G>T
NM_001408442.1:c.134+1G>T
NM_001408443.1:c.134+1G>T
NM_001408444.1:c.134+1G>T
NM_001408445.1:c.134+1G>T
NM_001408446.1:c.134+1G>T
NM_001408447.1:c.134+1G>T
NM_001408448.1:c.134+1G>T
NM_001408450.1:c.134+1G>T
NM_001408451.1:c.80+8292G>T
NM_001408452.1:c.-8+1G>T
NM_001408453.1:c.-8+1G>T
NM_001408454.1:c.-8+8292G>T
NM_001408455.1:c.-124+1G>T
NM_001408456.1:c.-124+1G>T
NM_001408457.1:c.-7-9192G>T
NM_001408458.1:c.-8+1G>T
NM_001408459.1:c.-8+8292G>T
NM_001408460.1:c.-8+8292G>T
NM_001408461.1:c.-8+8292G>T
NM_001408462.1:c.-8+1G>T
NM_001408463.1:c.-8+1G>T
NM_001408464.1:c.-8+8292G>T
NM_001408465.1:c.-128+1G>T
NM_001408466.1:c.-8+1G>T
NM_001408467.1:c.-8+8292G>T
NM_001408468.1:c.-124+1G>T
NM_001408469.1:c.-8+1G>T
NM_001408470.1:c.-8+1G>T
NM_001408472.1:c.134+1G>T
NM_001408473.1:c.134+1G>T
NM_001408474.1:c.134+1G>T
NM_001408475.1:c.134+1G>T
NM_001408476.1:c.134+1G>T
NM_001408478.1:c.-55+1G>T
NM_001408479.1:c.-55+1G>T
NM_001408480.1:c.-55+1G>T
NM_001408481.1:c.-55+1G>T
NM_001408482.1:c.-55+1G>T
NM_001408483.1:c.-55+1G>T
NM_001408484.1:c.-55+1G>T
NM_001408485.1:c.-55+1G>T
NM_001408489.1:c.-55+1G>T
NM_001408490.1:c.-55+1G>T
NM_001408491.1:c.-55+1G>T
NM_001408492.1:c.-171+1G>T
NM_001408493.1:c.-55+1G>T
NM_001408494.1:c.134+1G>T
NM_001408495.1:c.134+1G>T
NM_001408496.1:c.-8+8292G>T
NM_001408497.1:c.-8+1G>T
NM_001408498.1:c.-8+8292G>T
NM_001408499.1:c.-8+1G>T
NM_001408500.1:c.-8+1G>T
NM_001408501.1:c.-124+1G>T
NM_001408502.1:c.-55+1G>T
NM_001408503.1:c.-8+1G>T
NM_001408504.1:c.-8+1G>T
NM_001408505.1:c.-8+1G>T
NM_001408506.1:c.-55+1G>T
NM_001408507.1:c.-55+1G>T
NM_001408508.1:c.-55+1G>T
NM_001408509.1:c.-55+1G>T
NM_001408510.1:c.-170+1G>T
NM_001408511.1:c.-7-9192G>T
NM_001408512.1:c.-170+1G>T
NM_001408513.1:c.-55+1G>T
NM_001408514.1:c.-55+1G>T
NM_007294.4:c.134+1G>TMANE SELECT
NM_007297.4:c.-8+8292G>T
NM_007298.4:c.134+1G>T
NM_007299.4:c.134+1G>T
NM_007300.4:c.134+1G>T
LRG_292t1:c.134+1G>T
LRG_292:g.102259G>T
NC_000017.10:g.41267742C>A
NM_007294.3:c.134+1G>T
U14680.1:n.253+1G>T

Links:

Breast Cancer Information Core (BIC) (BRCA1): 253+1&base_change=G to T; dbSNP: rs80358043

NCBI 1000 Genomes Browser:

rs80358043

Molecular consequence:

NM_001407692.1:c.-7-9192G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5833G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9192G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5833G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.-8+5G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9192G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9552G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9546G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9546G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9552G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9192G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9192G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8292G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407581.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407582.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407583.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407585.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407587.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407590.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407591.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407593.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407594.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407596.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407597.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407598.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407602.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407603.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407605.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407610.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407611.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407612.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407613.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407614.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407615.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407616.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407617.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407618.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407619.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407620.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407621.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407622.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407623.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407624.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407625.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407626.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407627.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407628.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407629.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407630.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407631.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407632.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407633.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407634.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407635.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407636.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407637.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407638.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407639.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407640.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407641.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407642.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407644.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407645.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407646.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407647.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407648.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407649.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407652.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407653.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407654.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407655.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407656.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407657.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407658.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407659.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407660.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407661.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407662.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407663.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407664.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407665.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407666.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407667.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407668.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407669.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407670.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407671.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407672.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407673.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407674.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407675.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407676.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407677.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407678.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407679.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407680.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407681.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407682.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407683.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407684.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407685.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407686.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407687.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407688.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407689.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407690.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407691.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407694.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407695.1:c.-128+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407696.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407697.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407724.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407725.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407727.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407728.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407729.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407730.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407731.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407733.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407734.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407735.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407737.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407739.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407740.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407741.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407743.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407745.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407746.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407748.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407749.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407752.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407838.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407839.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407842.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407843.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407844.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407846.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407847.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407848.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407850.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407851.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407853.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407854.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407858.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407859.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407860.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407861.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407862.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407863.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407874.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407875.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407879.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407882.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407884.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407885.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407886.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407887.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407889.1:c.-171+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407894.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407895.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407896.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407897.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407899.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407900.1:c.-171+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407904.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407906.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407907.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407908.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407909.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407910.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407915.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407916.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407917.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407918.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407919.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407920.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407921.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407922.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407923.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407926.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407927.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407930.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407933.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407934.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407935.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407937.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407938.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407939.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407940.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407941.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407942.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407943.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407944.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407946.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407947.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407948.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407949.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407950.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407951.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407952.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407953.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407954.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407955.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407956.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407957.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407958.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407960.1:c.-170+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407962.1:c.-170+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407964.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407965.1:c.-286+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407968.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407970.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407971.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407972.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407973.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407974.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407975.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407976.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407977.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407978.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407979.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407980.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407981.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407982.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407983.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407984.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407985.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407986.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407990.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407991.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407992.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407993.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408392.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408396.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408397.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408398.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408399.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408400.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408401.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408402.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408403.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408404.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408406.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408407.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408408.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408409.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408410.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408411.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408412.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408413.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408414.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408415.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408416.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408418.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408419.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408420.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408421.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408422.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408423.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408424.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408425.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408426.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408427.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408428.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408429.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408430.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408431.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408432.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408433.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408434.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408435.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408436.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408437.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408438.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408439.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408440.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408441.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408442.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408443.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408444.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408445.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408446.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408447.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408448.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408450.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408452.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408453.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408455.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408456.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408458.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408462.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408463.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408465.1:c.-128+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408466.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408468.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408469.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408470.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408472.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408473.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408474.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408475.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408476.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408478.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408479.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408480.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408481.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408482.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408483.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408484.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408485.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408489.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408490.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408491.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408492.1:c.-171+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408493.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408494.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408495.1:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408497.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408499.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408500.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408501.1:c.-124+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408502.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408503.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408504.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408505.1:c.-8+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408506.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408507.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408508.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408509.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408510.1:c.-170+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408512.1:c.-170+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408513.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408514.1:c.-55+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.4:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

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
SCV001171208	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Jan 24, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001171208

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Jan 24, 2018)

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, SCV001171208.4

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

Description

The c.134+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 2 of the BRCA1 gene. This alteration, designated as IVS3+1G>T, has been detected in a Chinese breast cancer patient with a personal and family history of breast cancer diagnosed <50y (Thirthagiri E et al. Breast Cancer Res. 2008;10(4):R59). This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. 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 likely 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: Nov 10, 2024

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