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NM_007294.4(BRCA1):c.134+1G>C AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jun 9, 2022
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:
RCV000589448.10

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

NM_007294.4(BRCA1):c.134+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.134+1G>C
Other names:
IVS3+1G>C
HGVS:
  • NC_000017.11:g.43115725C>G
  • NG_005905.2:g.102259G>C
  • NM_001407571.1:c.-55+1G>C
  • NM_001407581.1:c.134+1G>C
  • NM_001407582.1:c.134+1G>C
  • NM_001407583.1:c.134+1G>C
  • NM_001407585.1:c.134+1G>C
  • NM_001407587.1:c.134+1G>C
  • NM_001407590.1:c.134+1G>C
  • NM_001407591.1:c.134+1G>C
  • NM_001407593.1:c.134+1G>C
  • NM_001407594.1:c.134+1G>C
  • NM_001407596.1:c.134+1G>C
  • NM_001407597.1:c.134+1G>C
  • NM_001407598.1:c.134+1G>C
  • NM_001407602.1:c.134+1G>C
  • NM_001407603.1:c.134+1G>C
  • NM_001407605.1:c.134+1G>C
  • NM_001407610.1:c.134+1G>C
  • NM_001407611.1:c.134+1G>C
  • NM_001407612.1:c.134+1G>C
  • NM_001407613.1:c.134+1G>C
  • NM_001407614.1:c.134+1G>C
  • NM_001407615.1:c.134+1G>C
  • NM_001407616.1:c.134+1G>C
  • NM_001407617.1:c.134+1G>C
  • NM_001407618.1:c.134+1G>C
  • NM_001407619.1:c.134+1G>C
  • NM_001407620.1:c.134+1G>C
  • NM_001407621.1:c.134+1G>C
  • NM_001407622.1:c.134+1G>C
  • NM_001407623.1:c.134+1G>C
  • NM_001407624.1:c.134+1G>C
  • NM_001407625.1:c.134+1G>C
  • NM_001407626.1:c.134+1G>C
  • NM_001407627.1:c.134+1G>C
  • NM_001407628.1:c.134+1G>C
  • NM_001407629.1:c.134+1G>C
  • NM_001407630.1:c.134+1G>C
  • NM_001407631.1:c.134+1G>C
  • NM_001407632.1:c.134+1G>C
  • NM_001407633.1:c.134+1G>C
  • NM_001407634.1:c.134+1G>C
  • NM_001407635.1:c.134+1G>C
  • NM_001407636.1:c.134+1G>C
  • NM_001407637.1:c.134+1G>C
  • NM_001407638.1:c.134+1G>C
  • NM_001407639.1:c.134+1G>C
  • NM_001407640.1:c.134+1G>C
  • NM_001407641.1:c.134+1G>C
  • NM_001407642.1:c.134+1G>C
  • NM_001407644.1:c.134+1G>C
  • NM_001407645.1:c.134+1G>C
  • NM_001407646.1:c.134+1G>C
  • NM_001407647.1:c.134+1G>C
  • NM_001407648.1:c.134+1G>C
  • NM_001407649.1:c.134+1G>C
  • NM_001407652.1:c.134+1G>C
  • NM_001407653.1:c.134+1G>C
  • NM_001407654.1:c.134+1G>C
  • NM_001407655.1:c.134+1G>C
  • NM_001407656.1:c.134+1G>C
  • NM_001407657.1:c.134+1G>C
  • NM_001407658.1:c.134+1G>C
  • NM_001407659.1:c.134+1G>C
  • NM_001407660.1:c.134+1G>C
  • NM_001407661.1:c.134+1G>C
  • NM_001407662.1:c.134+1G>C
  • NM_001407663.1:c.134+1G>C
  • NM_001407664.1:c.134+1G>C
  • NM_001407665.1:c.134+1G>C
  • NM_001407666.1:c.134+1G>C
  • NM_001407667.1:c.134+1G>C
  • NM_001407668.1:c.134+1G>C
  • NM_001407669.1:c.134+1G>C
  • NM_001407670.1:c.134+1G>C
  • NM_001407671.1:c.134+1G>C
  • NM_001407672.1:c.134+1G>C
  • NM_001407673.1:c.134+1G>C
  • NM_001407674.1:c.134+1G>C
  • NM_001407675.1:c.134+1G>C
  • NM_001407676.1:c.134+1G>C
  • NM_001407677.1:c.134+1G>C
  • NM_001407678.1:c.134+1G>C
  • NM_001407679.1:c.134+1G>C
  • NM_001407680.1:c.134+1G>C
  • NM_001407681.1:c.134+1G>C
  • NM_001407682.1:c.134+1G>C
  • NM_001407683.1:c.134+1G>C
  • NM_001407684.1:c.134+1G>C
  • NM_001407685.1:c.134+1G>C
  • NM_001407686.1:c.134+1G>C
  • NM_001407687.1:c.134+1G>C
  • NM_001407688.1:c.134+1G>C
  • NM_001407689.1:c.134+1G>C
  • NM_001407690.1:c.134+1G>C
  • NM_001407691.1:c.134+1G>C
  • NM_001407692.1:c.-7-9192G>C
  • NM_001407694.1:c.-124+1G>C
  • NM_001407695.1:c.-128+1G>C
  • NM_001407696.1:c.-124+1G>C
  • NM_001407697.1:c.-8+1G>C
  • NM_001407698.1:c.-8+8292G>C
  • NM_001407724.1:c.-124+1G>C
  • NM_001407725.1:c.-8+1G>C
  • NM_001407726.1:c.-8+5833G>C
  • NM_001407727.1:c.-124+1G>C
  • NM_001407728.1:c.-8+1G>C
  • NM_001407729.1:c.-8+1G>C
  • NM_001407730.1:c.-8+1G>C
  • NM_001407731.1:c.-124+1G>C
  • NM_001407732.1:c.-8+8292G>C
  • NM_001407733.1:c.-124+1G>C
  • NM_001407734.1:c.-8+1G>C
  • NM_001407735.1:c.-8+1G>C
  • NM_001407736.1:c.-8+8292G>C
  • NM_001407737.1:c.-8+1G>C
  • NM_001407738.1:c.-8+8292G>C
  • NM_001407739.1:c.-8+1G>C
  • NM_001407740.1:c.-8+1G>C
  • NM_001407741.1:c.-8+1G>C
  • NM_001407742.1:c.-8+8292G>C
  • NM_001407743.1:c.-8+1G>C
  • NM_001407744.1:c.-8+8292G>C
  • NM_001407745.1:c.-8+1G>C
  • NM_001407746.1:c.-124+1G>C
  • NM_001407747.1:c.-7-9192G>C
  • NM_001407748.1:c.-8+1G>C
  • NM_001407749.1:c.-124+1G>C
  • NM_001407750.1:c.-8+8292G>C
  • NM_001407751.1:c.-8+5833G>C
  • NM_001407752.1:c.-8+1G>C
  • NM_001407838.1:c.-8+1G>C
  • NM_001407839.1:c.-8+1G>C
  • NM_001407841.1:c.-8+5G>C
  • NM_001407842.1:c.-124+1G>C
  • NM_001407843.1:c.-124+1G>C
  • NM_001407844.1:c.-8+1G>C
  • NM_001407845.1:c.-8+8292G>C
  • NM_001407846.1:c.-8+1G>C
  • NM_001407847.1:c.-8+1G>C
  • NM_001407848.1:c.-8+1G>C
  • NM_001407849.1:c.-8+8292G>C
  • NM_001407850.1:c.-8+1G>C
  • NM_001407851.1:c.-8+1G>C
  • NM_001407852.1:c.-8+8292G>C
  • NM_001407853.1:c.-55+1G>C
  • NM_001407854.1:c.134+1G>C
  • NM_001407858.1:c.134+1G>C
  • NM_001407859.1:c.134+1G>C
  • NM_001407860.1:c.134+1G>C
  • NM_001407861.1:c.134+1G>C
  • NM_001407862.1:c.134+1G>C
  • NM_001407863.1:c.134+1G>C
  • NM_001407874.1:c.134+1G>C
  • NM_001407875.1:c.134+1G>C
  • NM_001407879.1:c.-55+1G>C
  • NM_001407881.1:c.-55+8292G>C
  • NM_001407882.1:c.-55+1G>C
  • NM_001407884.1:c.-55+1G>C
  • NM_001407885.1:c.-55+1G>C
  • NM_001407886.1:c.-55+1G>C
  • NM_001407887.1:c.-55+1G>C
  • NM_001407889.1:c.-171+1G>C
  • NM_001407894.1:c.-55+1G>C
  • NM_001407895.1:c.-55+1G>C
  • NM_001407896.1:c.-55+1G>C
  • NM_001407897.1:c.-55+1G>C
  • NM_001407898.1:c.-55+8292G>C
  • NM_001407899.1:c.-55+1G>C
  • NM_001407900.1:c.-171+1G>C
  • NM_001407902.1:c.-55+8292G>C
  • NM_001407904.1:c.-55+1G>C
  • NM_001407906.1:c.-55+1G>C
  • NM_001407907.1:c.-55+1G>C
  • NM_001407908.1:c.-55+1G>C
  • NM_001407909.1:c.-55+1G>C
  • NM_001407910.1:c.-55+1G>C
  • NM_001407915.1:c.-55+1G>C
  • NM_001407916.1:c.-55+1G>C
  • NM_001407917.1:c.-55+1G>C
  • NM_001407918.1:c.-55+1G>C
  • NM_001407919.1:c.134+1G>C
  • NM_001407920.1:c.-8+1G>C
  • NM_001407921.1:c.-8+1G>C
  • NM_001407922.1:c.-8+1G>C
  • NM_001407923.1:c.-8+1G>C
  • NM_001407924.1:c.-8+8292G>C
  • NM_001407925.1:c.-8+8292G>C
  • NM_001407926.1:c.-8+1G>C
  • NM_001407927.1:c.-8+1G>C
  • NM_001407928.1:c.-8+8292G>C
  • NM_001407929.1:c.-8+8292G>C
  • NM_001407930.1:c.-124+1G>C
  • NM_001407931.1:c.-7-9192G>C
  • NM_001407932.1:c.-8+8292G>C
  • NM_001407933.1:c.-8+1G>C
  • NM_001407934.1:c.-8+1G>C
  • NM_001407935.1:c.-8+1G>C
  • NM_001407936.1:c.-8+8292G>C
  • NM_001407937.1:c.134+1G>C
  • NM_001407938.1:c.134+1G>C
  • NM_001407939.1:c.134+1G>C
  • NM_001407940.1:c.134+1G>C
  • NM_001407941.1:c.134+1G>C
  • NM_001407942.1:c.-124+1G>C
  • NM_001407943.1:c.-8+1G>C
  • NM_001407944.1:c.-8+1G>C
  • NM_001407945.1:c.-8+8292G>C
  • NM_001407946.1:c.-55+1G>C
  • NM_001407947.1:c.-55+1G>C
  • NM_001407948.1:c.-55+1G>C
  • NM_001407949.1:c.-55+1G>C
  • NM_001407950.1:c.-55+1G>C
  • NM_001407951.1:c.-55+1G>C
  • NM_001407952.1:c.-55+1G>C
  • NM_001407953.1:c.-55+1G>C
  • NM_001407954.1:c.-55+1G>C
  • NM_001407955.1:c.-55+1G>C
  • NM_001407956.1:c.-55+1G>C
  • NM_001407957.1:c.-55+1G>C
  • NM_001407958.1:c.-55+1G>C
  • NM_001407959.1:c.-170+9552G>C
  • NM_001407960.1:c.-170+1G>C
  • NM_001407962.1:c.-170+1G>C
  • NM_001407963.1:c.-170+9546G>C
  • NM_001407964.1:c.-8+1G>C
  • NM_001407965.1:c.-286+1G>C
  • NM_001407966.1:c.-219+9546G>C
  • NM_001407967.1:c.-219+9552G>C
  • NM_001407968.1:c.134+1G>C
  • NM_001407969.1:c.134+1G>C
  • NM_001407970.1:c.134+1G>C
  • NM_001407971.1:c.134+1G>C
  • NM_001407972.1:c.134+1G>C
  • NM_001407973.1:c.134+1G>C
  • NM_001407974.1:c.134+1G>C
  • NM_001407975.1:c.134+1G>C
  • NM_001407976.1:c.134+1G>C
  • NM_001407977.1:c.134+1G>C
  • NM_001407978.1:c.134+1G>C
  • NM_001407979.1:c.134+1G>C
  • NM_001407980.1:c.134+1G>C
  • NM_001407981.1:c.134+1G>C
  • NM_001407982.1:c.134+1G>C
  • NM_001407983.1:c.134+1G>C
  • NM_001407984.1:c.134+1G>C
  • NM_001407985.1:c.134+1G>C
  • NM_001407986.1:c.134+1G>C
  • NM_001407990.1:c.134+1G>C
  • NM_001407991.1:c.134+1G>C
  • NM_001407992.1:c.134+1G>C
  • NM_001407993.1:c.134+1G>C
  • NM_001408392.1:c.134+1G>C
  • NM_001408396.1:c.134+1G>C
  • NM_001408397.1:c.134+1G>C
  • NM_001408398.1:c.134+1G>C
  • NM_001408399.1:c.134+1G>C
  • NM_001408400.1:c.134+1G>C
  • NM_001408401.1:c.134+1G>C
  • NM_001408402.1:c.134+1G>C
  • NM_001408403.1:c.134+1G>C
  • NM_001408404.1:c.134+1G>C
  • NM_001408406.1:c.134+1G>C
  • NM_001408407.1:c.134+1G>C
  • NM_001408408.1:c.134+1G>C
  • NM_001408409.1:c.134+1G>C
  • NM_001408410.1:c.-8+1G>C
  • NM_001408411.1:c.134+1G>C
  • NM_001408412.1:c.134+1G>C
  • NM_001408413.1:c.134+1G>C
  • NM_001408414.1:c.134+1G>C
  • NM_001408415.1:c.134+1G>C
  • NM_001408416.1:c.134+1G>C
  • NM_001408418.1:c.134+1G>C
  • NM_001408419.1:c.134+1G>C
  • NM_001408420.1:c.134+1G>C
  • NM_001408421.1:c.134+1G>C
  • NM_001408422.1:c.134+1G>C
  • NM_001408423.1:c.134+1G>C
  • NM_001408424.1:c.134+1G>C
  • NM_001408425.1:c.134+1G>C
  • NM_001408426.1:c.134+1G>C
  • NM_001408427.1:c.134+1G>C
  • NM_001408428.1:c.134+1G>C
  • NM_001408429.1:c.134+1G>C
  • NM_001408430.1:c.134+1G>C
  • NM_001408431.1:c.134+1G>C
  • NM_001408432.1:c.134+1G>C
  • NM_001408433.1:c.134+1G>C
  • NM_001408434.1:c.134+1G>C
  • NM_001408435.1:c.134+1G>C
  • NM_001408436.1:c.134+1G>C
  • NM_001408437.1:c.134+1G>C
  • NM_001408438.1:c.134+1G>C
  • NM_001408439.1:c.134+1G>C
  • NM_001408440.1:c.134+1G>C
  • NM_001408441.1:c.134+1G>C
  • NM_001408442.1:c.134+1G>C
  • NM_001408443.1:c.134+1G>C
  • NM_001408444.1:c.134+1G>C
  • NM_001408445.1:c.134+1G>C
  • NM_001408446.1:c.134+1G>C
  • NM_001408447.1:c.134+1G>C
  • NM_001408448.1:c.134+1G>C
  • NM_001408450.1:c.134+1G>C
  • NM_001408451.1:c.80+8292G>C
  • NM_001408452.1:c.-8+1G>C
  • NM_001408453.1:c.-8+1G>C
  • NM_001408454.1:c.-8+8292G>C
  • NM_001408455.1:c.-124+1G>C
  • NM_001408456.1:c.-124+1G>C
  • NM_001408457.1:c.-7-9192G>C
  • NM_001408458.1:c.-8+1G>C
  • NM_001408459.1:c.-8+8292G>C
  • NM_001408460.1:c.-8+8292G>C
  • NM_001408461.1:c.-8+8292G>C
  • NM_001408462.1:c.-8+1G>C
  • NM_001408463.1:c.-8+1G>C
  • NM_001408464.1:c.-8+8292G>C
  • NM_001408465.1:c.-128+1G>C
  • NM_001408466.1:c.-8+1G>C
  • NM_001408467.1:c.-8+8292G>C
  • NM_001408468.1:c.-124+1G>C
  • NM_001408469.1:c.-8+1G>C
  • NM_001408470.1:c.-8+1G>C
  • NM_001408472.1:c.134+1G>C
  • NM_001408473.1:c.134+1G>C
  • NM_001408474.1:c.134+1G>C
  • NM_001408475.1:c.134+1G>C
  • NM_001408476.1:c.134+1G>C
  • NM_001408478.1:c.-55+1G>C
  • NM_001408479.1:c.-55+1G>C
  • NM_001408480.1:c.-55+1G>C
  • NM_001408481.1:c.-55+1G>C
  • NM_001408482.1:c.-55+1G>C
  • NM_001408483.1:c.-55+1G>C
  • NM_001408484.1:c.-55+1G>C
  • NM_001408485.1:c.-55+1G>C
  • NM_001408489.1:c.-55+1G>C
  • NM_001408490.1:c.-55+1G>C
  • NM_001408491.1:c.-55+1G>C
  • NM_001408492.1:c.-171+1G>C
  • NM_001408493.1:c.-55+1G>C
  • NM_001408494.1:c.134+1G>C
  • NM_001408495.1:c.134+1G>C
  • NM_001408496.1:c.-8+8292G>C
  • NM_001408497.1:c.-8+1G>C
  • NM_001408498.1:c.-8+8292G>C
  • NM_001408499.1:c.-8+1G>C
  • NM_001408500.1:c.-8+1G>C
  • NM_001408501.1:c.-124+1G>C
  • NM_001408502.1:c.-55+1G>C
  • NM_001408503.1:c.-8+1G>C
  • NM_001408504.1:c.-8+1G>C
  • NM_001408505.1:c.-8+1G>C
  • NM_001408506.1:c.-55+1G>C
  • NM_001408507.1:c.-55+1G>C
  • NM_001408508.1:c.-55+1G>C
  • NM_001408509.1:c.-55+1G>C
  • NM_001408510.1:c.-170+1G>C
  • NM_001408511.1:c.-7-9192G>C
  • NM_001408512.1:c.-170+1G>C
  • NM_001408513.1:c.-55+1G>C
  • NM_001408514.1:c.-55+1G>C
  • NM_007294.4:c.134+1G>CMANE SELECT
  • NM_007297.4:c.-8+8292G>C
  • NM_007298.4:c.134+1G>C
  • NM_007299.4:c.134+1G>C
  • NM_007300.4:c.134+1G>C
  • LRG_292t1:c.134+1G>C
  • LRG_292:g.102259G>C
  • NC_000017.10:g.41267742C>G
  • NM_007294.3:c.134+1G>C
  • U14680.1:n.253+1G>C
Links:
Breast Cancer Information Core (BIC) (BRCA1): 253+1&base_change=G to C; dbSNP: rs80358043
NCBI 1000 Genomes Browser:
rs80358043
Molecular consequence:
  • NM_001407692.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5833G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5833G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-8+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9552G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9546G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9546G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9552G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9192G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8292G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.-128+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.-171+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.-171+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.-170+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.-170+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.-286+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.-128+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.-171+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.-124+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.-8+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.-170+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.-170+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408514.1:c.-55+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.134+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000698848Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Nov 14, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001209577Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 9, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.

Shi T, Wang P, Xie C, Yin S, Shi D, Wei C, Tang W, Jiang R, Cheng X, Wei Q, Wang Q, Zang R.

Int J Cancer. 2017 May 1;140(9):2051-2059. doi: 10.1002/ijc.30633. Epub 2017 Feb 23.

PubMed [citation]
PMID:
28176296
See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698848.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The BRCA1 c.134+1G>C variant involves the alteration of a conserved intronic nucleotide at a position known to affect splicing with 5/5 splice prediction tools predict the loss of a splicing site and ESE finder predicts alterations to ESE binding, however, these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications. However, a reputable database with a classification from 2002 cites the variant as "pathogenic." In addition, other variants located at this position, c.134+1G>A and c.134+1G>T, have been cited as "pathogenic." Therefore, the variant of interest has been classified as a "Likely Pathogenic" variant until additional information confirming the co-segregation with disease and an in-vitro/in-vivo impact on splicing are obtained.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001209577.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that disruption of this splice site affects BRCA1 function (PMID: 30209399). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 125563). Disruption of this splice site has been observed in individual(s) with BRCA1-related conditions (PMID: 28176296, 29446198). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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

Last Updated: Oct 8, 2024