NM_007294.4(BRCA1):c.81-1G>C AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 2, 2024
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:: RCV001524169.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-1G>C]

NM_007294.4(BRCA1):c.81-1G>C

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.81-1G>C

HGVS:

NC_000017.11:g.43115780C>G
NG_005905.2:g.102204G>C
NM_001407571.1:c.-108-1G>C
NM_001407581.1:c.81-1G>C
NM_001407582.1:c.81-1G>C
NM_001407583.1:c.81-1G>C
NM_001407585.1:c.81-1G>C
NM_001407587.1:c.81-1G>C
NM_001407590.1:c.81-1G>C
NM_001407591.1:c.81-1G>C
NM_001407593.1:c.81-1G>C
NM_001407594.1:c.81-1G>C
NM_001407596.1:c.81-1G>C
NM_001407597.1:c.81-1G>C
NM_001407598.1:c.81-1G>C
NM_001407602.1:c.81-1G>C
NM_001407603.1:c.81-1G>C
NM_001407605.1:c.81-1G>C
NM_001407610.1:c.81-1G>C
NM_001407611.1:c.81-1G>C
NM_001407612.1:c.81-1G>C
NM_001407613.1:c.81-1G>C
NM_001407614.1:c.81-1G>C
NM_001407615.1:c.81-1G>C
NM_001407616.1:c.81-1G>C
NM_001407617.1:c.81-1G>C
NM_001407618.1:c.81-1G>C
NM_001407619.1:c.81-1G>C
NM_001407620.1:c.81-1G>C
NM_001407621.1:c.81-1G>C
NM_001407622.1:c.81-1G>C
NM_001407623.1:c.81-1G>C
NM_001407624.1:c.81-1G>C
NM_001407625.1:c.81-1G>C
NM_001407626.1:c.81-1G>C
NM_001407627.1:c.81-1G>C
NM_001407628.1:c.81-1G>C
NM_001407629.1:c.81-1G>C
NM_001407630.1:c.81-1G>C
NM_001407631.1:c.81-1G>C
NM_001407632.1:c.81-1G>C
NM_001407633.1:c.81-1G>C
NM_001407634.1:c.81-1G>C
NM_001407635.1:c.81-1G>C
NM_001407636.1:c.81-1G>C
NM_001407637.1:c.81-1G>C
NM_001407638.1:c.81-1G>C
NM_001407639.1:c.81-1G>C
NM_001407640.1:c.81-1G>C
NM_001407641.1:c.81-1G>C
NM_001407642.1:c.81-1G>C
NM_001407644.1:c.81-1G>C
NM_001407645.1:c.81-1G>C
NM_001407646.1:c.81-1G>C
NM_001407647.1:c.81-1G>C
NM_001407648.1:c.81-1G>C
NM_001407649.1:c.81-1G>C
NM_001407652.1:c.81-1G>C
NM_001407653.1:c.81-1G>C
NM_001407654.1:c.81-1G>C
NM_001407655.1:c.81-1G>C
NM_001407656.1:c.81-1G>C
NM_001407657.1:c.81-1G>C
NM_001407658.1:c.81-1G>C
NM_001407659.1:c.81-1G>C
NM_001407660.1:c.81-1G>C
NM_001407661.1:c.81-1G>C
NM_001407662.1:c.81-1G>C
NM_001407663.1:c.81-1G>C
NM_001407664.1:c.81-1G>C
NM_001407665.1:c.81-1G>C
NM_001407666.1:c.81-1G>C
NM_001407667.1:c.81-1G>C
NM_001407668.1:c.81-1G>C
NM_001407669.1:c.81-1G>C
NM_001407670.1:c.81-1G>C
NM_001407671.1:c.81-1G>C
NM_001407672.1:c.81-1G>C
NM_001407673.1:c.81-1G>C
NM_001407674.1:c.81-1G>C
NM_001407675.1:c.81-1G>C
NM_001407676.1:c.81-1G>C
NM_001407677.1:c.81-1G>C
NM_001407678.1:c.81-1G>C
NM_001407679.1:c.81-1G>C
NM_001407680.1:c.81-1G>C
NM_001407681.1:c.81-1G>C
NM_001407682.1:c.81-1G>C
NM_001407683.1:c.81-1G>C
NM_001407684.1:c.81-1G>C
NM_001407685.1:c.81-1G>C
NM_001407686.1:c.81-1G>C
NM_001407687.1:c.81-1G>C
NM_001407688.1:c.81-1G>C
NM_001407689.1:c.81-1G>C
NM_001407690.1:c.81-1G>C
NM_001407691.1:c.81-1G>C
NM_001407692.1:c.-7-9247G>C
NM_001407694.1:c.-177-1G>C
NM_001407695.1:c.-181-1G>C
NM_001407696.1:c.-177-1G>C
NM_001407697.1:c.-61-1G>C
NM_001407698.1:c.-8+8237G>C
NM_001407724.1:c.-177-1G>C
NM_001407725.1:c.-61-1G>C
NM_001407726.1:c.-8+5778G>C
NM_001407727.1:c.-177-1G>C
NM_001407728.1:c.-61-1G>C
NM_001407729.1:c.-61-1G>C
NM_001407730.1:c.-61-1G>C
NM_001407731.1:c.-177-1G>C
NM_001407732.1:c.-8+8237G>C
NM_001407733.1:c.-177-1G>C
NM_001407734.1:c.-61-1G>C
NM_001407735.1:c.-61-1G>C
NM_001407736.1:c.-8+8237G>C
NM_001407737.1:c.-61-1G>C
NM_001407738.1:c.-8+8237G>C
NM_001407739.1:c.-61-1G>C
NM_001407740.1:c.-61-1G>C
NM_001407741.1:c.-61-1G>C
NM_001407742.1:c.-8+8237G>C
NM_001407743.1:c.-61-1G>C
NM_001407744.1:c.-8+8237G>C
NM_001407745.1:c.-61-1G>C
NM_001407746.1:c.-177-1G>C
NM_001407747.1:c.-7-9247G>C
NM_001407748.1:c.-61-1G>C
NM_001407749.1:c.-177-1G>C
NM_001407750.1:c.-8+8237G>C
NM_001407751.1:c.-8+5778G>C
NM_001407752.1:c.-61-1G>C
NM_001407838.1:c.-61-1G>C
NM_001407839.1:c.-61-1G>C
NM_001407841.1:c.-57-1G>C
NM_001407842.1:c.-177-1G>C
NM_001407843.1:c.-177-1G>C
NM_001407844.1:c.-61-1G>C
NM_001407845.1:c.-8+8237G>C
NM_001407846.1:c.-61-1G>C
NM_001407847.1:c.-61-1G>C
NM_001407848.1:c.-61-1G>C
NM_001407849.1:c.-8+8237G>C
NM_001407850.1:c.-61-1G>C
NM_001407851.1:c.-61-1G>C
NM_001407852.1:c.-8+8237G>C
NM_001407853.1:c.-108-1G>C
NM_001407854.1:c.81-1G>C
NM_001407858.1:c.81-1G>C
NM_001407859.1:c.81-1G>C
NM_001407860.1:c.81-1G>C
NM_001407861.1:c.81-1G>C
NM_001407862.1:c.81-1G>C
NM_001407863.1:c.81-1G>C
NM_001407874.1:c.81-1G>C
NM_001407875.1:c.81-1G>C
NM_001407879.1:c.-108-1G>C
NM_001407881.1:c.-55+8237G>C
NM_001407882.1:c.-108-1G>C
NM_001407884.1:c.-108-1G>C
NM_001407885.1:c.-108-1G>C
NM_001407886.1:c.-108-1G>C
NM_001407887.1:c.-108-1G>C
NM_001407889.1:c.-224-1G>C
NM_001407894.1:c.-108-1G>C
NM_001407895.1:c.-108-1G>C
NM_001407896.1:c.-108-1G>C
NM_001407897.1:c.-108-1G>C
NM_001407898.1:c.-55+8237G>C
NM_001407899.1:c.-108-1G>C
NM_001407900.1:c.-224-1G>C
NM_001407902.1:c.-55+8237G>C
NM_001407904.1:c.-108-1G>C
NM_001407906.1:c.-108-1G>C
NM_001407907.1:c.-108-1G>C
NM_001407908.1:c.-108-1G>C
NM_001407909.1:c.-108-1G>C
NM_001407910.1:c.-108-1G>C
NM_001407915.1:c.-108-1G>C
NM_001407916.1:c.-108-1G>C
NM_001407917.1:c.-108-1G>C
NM_001407918.1:c.-108-1G>C
NM_001407919.1:c.81-1G>C
NM_001407920.1:c.-61-1G>C
NM_001407921.1:c.-61-1G>C
NM_001407922.1:c.-61-1G>C
NM_001407923.1:c.-61-1G>C
NM_001407924.1:c.-8+8237G>C
NM_001407925.1:c.-8+8237G>C
NM_001407926.1:c.-61-1G>C
NM_001407927.1:c.-61-1G>C
NM_001407928.1:c.-8+8237G>C
NM_001407929.1:c.-8+8237G>C
NM_001407930.1:c.-177-1G>C
NM_001407931.1:c.-7-9247G>C
NM_001407932.1:c.-8+8237G>C
NM_001407933.1:c.-61-1G>C
NM_001407934.1:c.-61-1G>C
NM_001407935.1:c.-61-1G>C
NM_001407936.1:c.-8+8237G>C
NM_001407937.1:c.81-1G>C
NM_001407938.1:c.81-1G>C
NM_001407939.1:c.81-1G>C
NM_001407940.1:c.81-1G>C
NM_001407941.1:c.81-1G>C
NM_001407942.1:c.-177-1G>C
NM_001407943.1:c.-61-1G>C
NM_001407944.1:c.-61-1G>C
NM_001407945.1:c.-8+8237G>C
NM_001407946.1:c.-108-1G>C
NM_001407947.1:c.-108-1G>C
NM_001407948.1:c.-108-1G>C
NM_001407949.1:c.-108-1G>C
NM_001407950.1:c.-108-1G>C
NM_001407951.1:c.-108-1G>C
NM_001407952.1:c.-108-1G>C
NM_001407953.1:c.-108-1G>C
NM_001407954.1:c.-108-1G>C
NM_001407955.1:c.-108-1G>C
NM_001407956.1:c.-108-1G>C
NM_001407957.1:c.-108-1G>C
NM_001407958.1:c.-108-1G>C
NM_001407959.1:c.-170+9497G>C
NM_001407960.1:c.-223-1G>C
NM_001407962.1:c.-223-1G>C
NM_001407963.1:c.-170+9491G>C
NM_001407964.1:c.-61-1G>C
NM_001407965.1:c.-339-1G>C
NM_001407966.1:c.-219+9491G>C
NM_001407967.1:c.-219+9497G>C
NM_001407968.1:c.81-1G>C
NM_001407969.1:c.81-1G>C
NM_001407970.1:c.81-1G>C
NM_001407971.1:c.81-1G>C
NM_001407972.1:c.81-1G>C
NM_001407973.1:c.81-1G>C
NM_001407974.1:c.81-1G>C
NM_001407975.1:c.81-1G>C
NM_001407976.1:c.81-1G>C
NM_001407977.1:c.81-1G>C
NM_001407978.1:c.81-1G>C
NM_001407979.1:c.81-1G>C
NM_001407980.1:c.81-1G>C
NM_001407981.1:c.81-1G>C
NM_001407982.1:c.81-1G>C
NM_001407983.1:c.81-1G>C
NM_001407984.1:c.81-1G>C
NM_001407985.1:c.81-1G>C
NM_001407986.1:c.81-1G>C
NM_001407990.1:c.81-1G>C
NM_001407991.1:c.81-1G>C
NM_001407992.1:c.81-1G>C
NM_001407993.1:c.81-1G>C
NM_001408392.1:c.81-1G>C
NM_001408396.1:c.81-1G>C
NM_001408397.1:c.81-1G>C
NM_001408398.1:c.81-1G>C
NM_001408399.1:c.81-1G>C
NM_001408400.1:c.81-1G>C
NM_001408401.1:c.81-1G>C
NM_001408402.1:c.81-1G>C
NM_001408403.1:c.81-1G>C
NM_001408404.1:c.81-1G>C
NM_001408406.1:c.81-1G>C
NM_001408407.1:c.81-1G>C
NM_001408408.1:c.81-1G>C
NM_001408409.1:c.81-1G>C
NM_001408410.1:c.-61-1G>C
NM_001408411.1:c.81-1G>C
NM_001408412.1:c.81-1G>C
NM_001408413.1:c.81-1G>C
NM_001408414.1:c.81-1G>C
NM_001408415.1:c.81-1G>C
NM_001408416.1:c.81-1G>C
NM_001408418.1:c.81-1G>C
NM_001408419.1:c.81-1G>C
NM_001408420.1:c.81-1G>C
NM_001408421.1:c.81-1G>C
NM_001408422.1:c.81-1G>C
NM_001408423.1:c.81-1G>C
NM_001408424.1:c.81-1G>C
NM_001408425.1:c.81-1G>C
NM_001408426.1:c.81-1G>C
NM_001408427.1:c.81-1G>C
NM_001408428.1:c.81-1G>C
NM_001408429.1:c.81-1G>C
NM_001408430.1:c.81-1G>C
NM_001408431.1:c.81-1G>C
NM_001408432.1:c.81-1G>C
NM_001408433.1:c.81-1G>C
NM_001408434.1:c.81-1G>C
NM_001408435.1:c.81-1G>C
NM_001408436.1:c.81-1G>C
NM_001408437.1:c.81-1G>C
NM_001408438.1:c.81-1G>C
NM_001408439.1:c.81-1G>C
NM_001408440.1:c.81-1G>C
NM_001408441.1:c.81-1G>C
NM_001408442.1:c.81-1G>C
NM_001408443.1:c.81-1G>C
NM_001408444.1:c.81-1G>C
NM_001408445.1:c.81-1G>C
NM_001408446.1:c.81-1G>C
NM_001408447.1:c.81-1G>C
NM_001408448.1:c.81-1G>C
NM_001408450.1:c.81-1G>C
NM_001408451.1:c.80+8237G>C
NM_001408452.1:c.-61-1G>C
NM_001408453.1:c.-61-1G>C
NM_001408454.1:c.-8+8237G>C
NM_001408455.1:c.-177-1G>C
NM_001408456.1:c.-177-1G>C
NM_001408457.1:c.-7-9247G>C
NM_001408458.1:c.-61-1G>C
NM_001408459.1:c.-8+8237G>C
NM_001408460.1:c.-8+8237G>C
NM_001408461.1:c.-8+8237G>C
NM_001408462.1:c.-61-1G>C
NM_001408463.1:c.-61-1G>C
NM_001408464.1:c.-8+8237G>C
NM_001408465.1:c.-181-1G>C
NM_001408466.1:c.-61-1G>C
NM_001408467.1:c.-8+8237G>C
NM_001408468.1:c.-177-1G>C
NM_001408469.1:c.-61-1G>C
NM_001408470.1:c.-61-1G>C
NM_001408472.1:c.81-1G>C
NM_001408473.1:c.81-1G>C
NM_001408474.1:c.81-1G>C
NM_001408475.1:c.81-1G>C
NM_001408476.1:c.81-1G>C
NM_001408478.1:c.-108-1G>C
NM_001408479.1:c.-108-1G>C
NM_001408480.1:c.-108-1G>C
NM_001408481.1:c.-108-1G>C
NM_001408482.1:c.-108-1G>C
NM_001408483.1:c.-108-1G>C
NM_001408484.1:c.-108-1G>C
NM_001408485.1:c.-108-1G>C
NM_001408489.1:c.-108-1G>C
NM_001408490.1:c.-108-1G>C
NM_001408491.1:c.-108-1G>C
NM_001408492.1:c.-224-1G>C
NM_001408493.1:c.-108-1G>C
NM_001408494.1:c.81-1G>C
NM_001408495.1:c.81-1G>C
NM_001408496.1:c.-8+8237G>C
NM_001408497.1:c.-61-1G>C
NM_001408498.1:c.-8+8237G>C
NM_001408499.1:c.-61-1G>C
NM_001408500.1:c.-61-1G>C
NM_001408501.1:c.-177-1G>C
NM_001408502.1:c.-108-1G>C
NM_001408503.1:c.-61-1G>C
NM_001408504.1:c.-61-1G>C
NM_001408505.1:c.-61-1G>C
NM_001408506.1:c.-108-1G>C
NM_001408507.1:c.-108-1G>C
NM_001408508.1:c.-108-1G>C
NM_001408509.1:c.-108-1G>C
NM_001408510.1:c.-223-1G>C
NM_001408511.1:c.-7-9247G>C
NM_001408512.1:c.-223-1G>C
NM_001408513.1:c.-108-1G>C
NM_001408514.1:c.-108-1G>C
NM_007294.4:c.81-1G>CMANE SELECT
NM_007297.4:c.-8+8237G>C
NM_007298.4:c.81-1G>C
NM_007299.4:c.81-1G>C
NM_007300.4:c.81-1G>C
LRG_292t1:c.81-1G>C
LRG_292:g.102204G>C
NC_000017.10:g.41267797C>G
NM_007294.3:c.81-1G>C

Links:

dbSNP: rs80358018

NCBI 1000 Genomes Browser:

rs80358018

Molecular consequence:

NM_001407692.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5778G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5778G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9497G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9491G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9491G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9497G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407581.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407582.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407583.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407585.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407587.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407590.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407591.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407593.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407594.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407596.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407597.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407598.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407602.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407603.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407605.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407610.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407611.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407612.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407613.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407614.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407615.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407616.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407617.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407618.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407619.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407620.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407621.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407622.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407623.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407624.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407625.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407626.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407627.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407628.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407629.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407630.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407631.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407632.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407633.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407634.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407635.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407636.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407637.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407638.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407639.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407640.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407641.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407642.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407644.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407645.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407646.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407647.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407648.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407649.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407652.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407653.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407654.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407655.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407656.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407657.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407658.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407659.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407660.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407661.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407662.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407663.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407664.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407665.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407666.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407667.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407668.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407669.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407670.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407671.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407672.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407673.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407674.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407675.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407676.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407677.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407678.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407679.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407680.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407681.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407682.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407683.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407684.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407685.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407686.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407687.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407688.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407689.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407690.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407691.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407694.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407695.1:c.-181-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407696.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407697.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407724.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407725.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407727.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407728.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407729.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407730.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407731.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407733.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407734.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407735.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407737.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407739.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407740.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407741.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407743.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407745.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407746.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407748.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407749.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407752.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407838.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407839.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407841.1:c.-57-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407842.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407843.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407844.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407846.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407847.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407848.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407850.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407851.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407853.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407854.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407858.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407859.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407860.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407861.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407862.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407863.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407874.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407875.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407879.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407882.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407884.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407885.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407886.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407887.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407889.1:c.-224-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407894.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407895.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407896.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407897.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407899.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407900.1:c.-224-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407904.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407906.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407907.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407908.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407909.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407910.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407915.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407916.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407917.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407918.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407919.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407920.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407921.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407922.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407923.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407926.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407927.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407930.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407933.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407934.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407935.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407937.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407938.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407939.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407940.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407941.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407942.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407943.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407944.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407946.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407947.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407948.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407949.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407950.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407951.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407952.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407953.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407954.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407955.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407956.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407957.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407958.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407960.1:c.-223-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407962.1:c.-223-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407964.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407965.1:c.-339-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407968.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407969.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407970.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407971.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407972.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407973.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407974.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407975.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407976.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407977.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407978.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407979.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407980.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407981.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407982.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407983.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407984.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407985.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407986.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407990.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407991.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407992.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407993.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408392.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408396.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408397.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408398.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408399.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408400.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408401.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408402.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408403.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408404.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408406.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408407.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408408.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408409.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408410.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408411.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408412.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408413.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408414.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408415.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408416.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408418.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408419.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408420.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408421.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408422.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408423.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408424.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408425.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408426.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408427.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408428.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408429.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408430.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408431.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408432.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408433.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408434.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408435.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408436.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408437.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408438.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408439.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408440.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408441.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408442.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408443.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408444.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408445.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408446.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408447.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408448.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408450.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408452.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408453.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408455.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408456.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408458.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408462.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408463.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408465.1:c.-181-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408466.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408468.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408469.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408470.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408472.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408473.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408474.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408475.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408476.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408478.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408479.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408480.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408481.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408482.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408483.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408484.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408485.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408489.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408490.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408491.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408492.1:c.-224-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408493.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408494.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408495.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408497.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408499.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408500.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408501.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408502.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408503.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408504.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408505.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408506.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408507.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408508.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408509.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408510.1:c.-223-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408512.1:c.-223-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408513.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408514.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007294.4:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007298.4:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007299.4:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007300.4:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Festuca molokaiensis isolate BISH-728771 tRNA-Leu (trnL) gene and trnL-trnF inte...
Festuca molokaiensis isolate BISH-728771 tRNA-Leu (trnL) gene and trnL-trnF intergenic spacer, partial sequence; chloroplast
gi|239580020|gb|GQ162210.1|

Nucleotide
Festuca novae-zelandiae OTA057939 18S ribosomal RNA gene, partial sequence; inte...
Festuca novae-zelandiae OTA057939 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequence
gi|46488652|gb|AY524832.1|

Nucleotide
Homo sapiens isolate CHM13 chromosome 1, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 1, alternate assembly T2T-CHM13v2.0
gi|2194974903|gnl|ASM:GCF_009914825 f|NC_060925.1||gpp|GPC_000012740.1||gnl|NCBI_GENOMES|119561

Nucleotide
Chromosome neighbors for GEO Profiles (Select 19538914) (20)
GEO Profiles
OMIM Links for GEO Profiles (Select 132353920) (1)
OMIM

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001733945	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 24, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005100968	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Apr 2, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22505045, 30209399, 32438681 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001733945

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 24, 2020)

germline

clinical testing

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

SCV005100968

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Apr 2, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

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 (4)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001733945.1

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

Description

This variant causes a G to C nucleotide substitution at the -1 position of intron 2 splice acceptor site of the BRCA1 gene. An RT-PCR analysis of carrier-derived RNA has shown that this variant results in the deletion of 7 nucleotides from the beginning of exon 3, due to the activation of a cryptic acceptor site (PMID: 23239986) and corroborated by a minigene splicing assay (PMID: 22505045). This causes a frameshift and a premature protein truncation (r.81_87del; p.Leu28*). This variant has been reported in multiple individuals affected with breast and/or ovarian cancer (PMID: 16287141, 21918854, 23239986, 30263092, 32438681). 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

From Ambry Genetics, SCV005100968.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The c.81-1G>C intronic pathogenic mutation results from a G to C substitution one nucleotide upstream from 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. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data, Houdayer C et al. Hum Mutat, 2012 Aug;33:1228-38). This variant was identified in 2 of 2351 breast and/or ovarian cancer patients undergoing BRCA1/2 genetic testing (Santonocito C et al. Cancers (Basel), 2020 May;12:). Additionally, One functional study found that this nucleotide substitution is non-functional in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 Oct;562:217-222). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and may result in the creation or strengthening of a novel splice acceptor site. Based on the supporting evidence, 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: Nov 10, 2024

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