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NM_007294.4(BRCA1):c.81-9C>G AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 21, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000049152.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-9C>G]

NM_007294.4(BRCA1):c.81-9C>G

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.81-9C>G
Other names:
IVS2-9C>G
HGVS:
  • NC_000017.11:g.43115788G>C
  • NG_005905.2:g.102196C>G
  • NM_001407571.1:c.-108-9C>G
  • NM_001407581.1:c.81-9C>G
  • NM_001407582.1:c.81-9C>G
  • NM_001407583.1:c.81-9C>G
  • NM_001407585.1:c.81-9C>G
  • NM_001407587.1:c.81-9C>G
  • NM_001407590.1:c.81-9C>G
  • NM_001407591.1:c.81-9C>G
  • NM_001407593.1:c.81-9C>G
  • NM_001407594.1:c.81-9C>G
  • NM_001407596.1:c.81-9C>G
  • NM_001407597.1:c.81-9C>G
  • NM_001407598.1:c.81-9C>G
  • NM_001407602.1:c.81-9C>G
  • NM_001407603.1:c.81-9C>G
  • NM_001407605.1:c.81-9C>G
  • NM_001407610.1:c.81-9C>G
  • NM_001407611.1:c.81-9C>G
  • NM_001407612.1:c.81-9C>G
  • NM_001407613.1:c.81-9C>G
  • NM_001407614.1:c.81-9C>G
  • NM_001407615.1:c.81-9C>G
  • NM_001407616.1:c.81-9C>G
  • NM_001407617.1:c.81-9C>G
  • NM_001407618.1:c.81-9C>G
  • NM_001407619.1:c.81-9C>G
  • NM_001407620.1:c.81-9C>G
  • NM_001407621.1:c.81-9C>G
  • NM_001407622.1:c.81-9C>G
  • NM_001407623.1:c.81-9C>G
  • NM_001407624.1:c.81-9C>G
  • NM_001407625.1:c.81-9C>G
  • NM_001407626.1:c.81-9C>G
  • NM_001407627.1:c.81-9C>G
  • NM_001407628.1:c.81-9C>G
  • NM_001407629.1:c.81-9C>G
  • NM_001407630.1:c.81-9C>G
  • NM_001407631.1:c.81-9C>G
  • NM_001407632.1:c.81-9C>G
  • NM_001407633.1:c.81-9C>G
  • NM_001407634.1:c.81-9C>G
  • NM_001407635.1:c.81-9C>G
  • NM_001407636.1:c.81-9C>G
  • NM_001407637.1:c.81-9C>G
  • NM_001407638.1:c.81-9C>G
  • NM_001407639.1:c.81-9C>G
  • NM_001407640.1:c.81-9C>G
  • NM_001407641.1:c.81-9C>G
  • NM_001407642.1:c.81-9C>G
  • NM_001407644.1:c.81-9C>G
  • NM_001407645.1:c.81-9C>G
  • NM_001407646.1:c.81-9C>G
  • NM_001407647.1:c.81-9C>G
  • NM_001407648.1:c.81-9C>G
  • NM_001407649.1:c.81-9C>G
  • NM_001407652.1:c.81-9C>G
  • NM_001407653.1:c.81-9C>G
  • NM_001407654.1:c.81-9C>G
  • NM_001407655.1:c.81-9C>G
  • NM_001407656.1:c.81-9C>G
  • NM_001407657.1:c.81-9C>G
  • NM_001407658.1:c.81-9C>G
  • NM_001407659.1:c.81-9C>G
  • NM_001407660.1:c.81-9C>G
  • NM_001407661.1:c.81-9C>G
  • NM_001407662.1:c.81-9C>G
  • NM_001407663.1:c.81-9C>G
  • NM_001407664.1:c.81-9C>G
  • NM_001407665.1:c.81-9C>G
  • NM_001407666.1:c.81-9C>G
  • NM_001407667.1:c.81-9C>G
  • NM_001407668.1:c.81-9C>G
  • NM_001407669.1:c.81-9C>G
  • NM_001407670.1:c.81-9C>G
  • NM_001407671.1:c.81-9C>G
  • NM_001407672.1:c.81-9C>G
  • NM_001407673.1:c.81-9C>G
  • NM_001407674.1:c.81-9C>G
  • NM_001407675.1:c.81-9C>G
  • NM_001407676.1:c.81-9C>G
  • NM_001407677.1:c.81-9C>G
  • NM_001407678.1:c.81-9C>G
  • NM_001407679.1:c.81-9C>G
  • NM_001407680.1:c.81-9C>G
  • NM_001407681.1:c.81-9C>G
  • NM_001407682.1:c.81-9C>G
  • NM_001407683.1:c.81-9C>G
  • NM_001407684.1:c.81-9C>G
  • NM_001407685.1:c.81-9C>G
  • NM_001407686.1:c.81-9C>G
  • NM_001407687.1:c.81-9C>G
  • NM_001407688.1:c.81-9C>G
  • NM_001407689.1:c.81-9C>G
  • NM_001407690.1:c.81-9C>G
  • NM_001407691.1:c.81-9C>G
  • NM_001407692.1:c.-7-9255C>G
  • NM_001407694.1:c.-177-9C>G
  • NM_001407695.1:c.-181-9C>G
  • NM_001407696.1:c.-177-9C>G
  • NM_001407697.1:c.-61-9C>G
  • NM_001407698.1:c.-8+8229C>G
  • NM_001407724.1:c.-177-9C>G
  • NM_001407725.1:c.-61-9C>G
  • NM_001407726.1:c.-8+5770C>G
  • NM_001407727.1:c.-177-9C>G
  • NM_001407728.1:c.-61-9C>G
  • NM_001407729.1:c.-61-9C>G
  • NM_001407730.1:c.-61-9C>G
  • NM_001407731.1:c.-177-9C>G
  • NM_001407732.1:c.-8+8229C>G
  • NM_001407733.1:c.-177-9C>G
  • NM_001407734.1:c.-61-9C>G
  • NM_001407735.1:c.-61-9C>G
  • NM_001407736.1:c.-8+8229C>G
  • NM_001407737.1:c.-61-9C>G
  • NM_001407738.1:c.-8+8229C>G
  • NM_001407739.1:c.-61-9C>G
  • NM_001407740.1:c.-61-9C>G
  • NM_001407741.1:c.-61-9C>G
  • NM_001407742.1:c.-8+8229C>G
  • NM_001407743.1:c.-61-9C>G
  • NM_001407744.1:c.-8+8229C>G
  • NM_001407745.1:c.-61-9C>G
  • NM_001407746.1:c.-177-9C>G
  • NM_001407747.1:c.-7-9255C>G
  • NM_001407748.1:c.-61-9C>G
  • NM_001407749.1:c.-177-9C>G
  • NM_001407750.1:c.-8+8229C>G
  • NM_001407751.1:c.-8+5770C>G
  • NM_001407752.1:c.-61-9C>G
  • NM_001407838.1:c.-61-9C>G
  • NM_001407839.1:c.-61-9C>G
  • NM_001407841.1:c.-57-9C>G
  • NM_001407842.1:c.-177-9C>G
  • NM_001407843.1:c.-177-9C>G
  • NM_001407844.1:c.-61-9C>G
  • NM_001407845.1:c.-8+8229C>G
  • NM_001407846.1:c.-61-9C>G
  • NM_001407847.1:c.-61-9C>G
  • NM_001407848.1:c.-61-9C>G
  • NM_001407849.1:c.-8+8229C>G
  • NM_001407850.1:c.-61-9C>G
  • NM_001407851.1:c.-61-9C>G
  • NM_001407852.1:c.-8+8229C>G
  • NM_001407853.1:c.-108-9C>G
  • NM_001407854.1:c.81-9C>G
  • NM_001407858.1:c.81-9C>G
  • NM_001407859.1:c.81-9C>G
  • NM_001407860.1:c.81-9C>G
  • NM_001407861.1:c.81-9C>G
  • NM_001407862.1:c.81-9C>G
  • NM_001407863.1:c.81-9C>G
  • NM_001407874.1:c.81-9C>G
  • NM_001407875.1:c.81-9C>G
  • NM_001407879.1:c.-108-9C>G
  • NM_001407881.1:c.-55+8229C>G
  • NM_001407882.1:c.-108-9C>G
  • NM_001407884.1:c.-108-9C>G
  • NM_001407885.1:c.-108-9C>G
  • NM_001407886.1:c.-108-9C>G
  • NM_001407887.1:c.-108-9C>G
  • NM_001407889.1:c.-224-9C>G
  • NM_001407894.1:c.-108-9C>G
  • NM_001407895.1:c.-108-9C>G
  • NM_001407896.1:c.-108-9C>G
  • NM_001407897.1:c.-108-9C>G
  • NM_001407898.1:c.-55+8229C>G
  • NM_001407899.1:c.-108-9C>G
  • NM_001407900.1:c.-224-9C>G
  • NM_001407902.1:c.-55+8229C>G
  • NM_001407904.1:c.-108-9C>G
  • NM_001407906.1:c.-108-9C>G
  • NM_001407907.1:c.-108-9C>G
  • NM_001407908.1:c.-108-9C>G
  • NM_001407909.1:c.-108-9C>G
  • NM_001407910.1:c.-108-9C>G
  • NM_001407915.1:c.-108-9C>G
  • NM_001407916.1:c.-108-9C>G
  • NM_001407917.1:c.-108-9C>G
  • NM_001407918.1:c.-108-9C>G
  • NM_001407919.1:c.81-9C>G
  • NM_001407920.1:c.-61-9C>G
  • NM_001407921.1:c.-61-9C>G
  • NM_001407922.1:c.-61-9C>G
  • NM_001407923.1:c.-61-9C>G
  • NM_001407924.1:c.-8+8229C>G
  • NM_001407925.1:c.-8+8229C>G
  • NM_001407926.1:c.-61-9C>G
  • NM_001407927.1:c.-61-9C>G
  • NM_001407928.1:c.-8+8229C>G
  • NM_001407929.1:c.-8+8229C>G
  • NM_001407930.1:c.-177-9C>G
  • NM_001407931.1:c.-7-9255C>G
  • NM_001407932.1:c.-8+8229C>G
  • NM_001407933.1:c.-61-9C>G
  • NM_001407934.1:c.-61-9C>G
  • NM_001407935.1:c.-61-9C>G
  • NM_001407936.1:c.-8+8229C>G
  • NM_001407937.1:c.81-9C>G
  • NM_001407938.1:c.81-9C>G
  • NM_001407939.1:c.81-9C>G
  • NM_001407940.1:c.81-9C>G
  • NM_001407941.1:c.81-9C>G
  • NM_001407942.1:c.-177-9C>G
  • NM_001407943.1:c.-61-9C>G
  • NM_001407944.1:c.-61-9C>G
  • NM_001407945.1:c.-8+8229C>G
  • NM_001407946.1:c.-108-9C>G
  • NM_001407947.1:c.-108-9C>G
  • NM_001407948.1:c.-108-9C>G
  • NM_001407949.1:c.-108-9C>G
  • NM_001407950.1:c.-108-9C>G
  • NM_001407951.1:c.-108-9C>G
  • NM_001407952.1:c.-108-9C>G
  • NM_001407953.1:c.-108-9C>G
  • NM_001407954.1:c.-108-9C>G
  • NM_001407955.1:c.-108-9C>G
  • NM_001407956.1:c.-108-9C>G
  • NM_001407957.1:c.-108-9C>G
  • NM_001407958.1:c.-108-9C>G
  • NM_001407959.1:c.-170+9489C>G
  • NM_001407960.1:c.-223-9C>G
  • NM_001407962.1:c.-223-9C>G
  • NM_001407963.1:c.-170+9483C>G
  • NM_001407964.1:c.-61-9C>G
  • NM_001407965.1:c.-339-9C>G
  • NM_001407966.1:c.-219+9483C>G
  • NM_001407967.1:c.-219+9489C>G
  • NM_001407968.1:c.81-9C>G
  • NM_001407969.1:c.81-9C>G
  • NM_001407970.1:c.81-9C>G
  • NM_001407971.1:c.81-9C>G
  • NM_001407972.1:c.81-9C>G
  • NM_001407973.1:c.81-9C>G
  • NM_001407974.1:c.81-9C>G
  • NM_001407975.1:c.81-9C>G
  • NM_001407976.1:c.81-9C>G
  • NM_001407977.1:c.81-9C>G
  • NM_001407978.1:c.81-9C>G
  • NM_001407979.1:c.81-9C>G
  • NM_001407980.1:c.81-9C>G
  • NM_001407981.1:c.81-9C>G
  • NM_001407982.1:c.81-9C>G
  • NM_001407983.1:c.81-9C>G
  • NM_001407984.1:c.81-9C>G
  • NM_001407985.1:c.81-9C>G
  • NM_001407986.1:c.81-9C>G
  • NM_001407990.1:c.81-9C>G
  • NM_001407991.1:c.81-9C>G
  • NM_001407992.1:c.81-9C>G
  • NM_001407993.1:c.81-9C>G
  • NM_001408392.1:c.81-9C>G
  • NM_001408396.1:c.81-9C>G
  • NM_001408397.1:c.81-9C>G
  • NM_001408398.1:c.81-9C>G
  • NM_001408399.1:c.81-9C>G
  • NM_001408400.1:c.81-9C>G
  • NM_001408401.1:c.81-9C>G
  • NM_001408402.1:c.81-9C>G
  • NM_001408403.1:c.81-9C>G
  • NM_001408404.1:c.81-9C>G
  • NM_001408406.1:c.81-9C>G
  • NM_001408407.1:c.81-9C>G
  • NM_001408408.1:c.81-9C>G
  • NM_001408409.1:c.81-9C>G
  • NM_001408410.1:c.-61-9C>G
  • NM_001408411.1:c.81-9C>G
  • NM_001408412.1:c.81-9C>G
  • NM_001408413.1:c.81-9C>G
  • NM_001408414.1:c.81-9C>G
  • NM_001408415.1:c.81-9C>G
  • NM_001408416.1:c.81-9C>G
  • NM_001408418.1:c.81-9C>G
  • NM_001408419.1:c.81-9C>G
  • NM_001408420.1:c.81-9C>G
  • NM_001408421.1:c.81-9C>G
  • NM_001408422.1:c.81-9C>G
  • NM_001408423.1:c.81-9C>G
  • NM_001408424.1:c.81-9C>G
  • NM_001408425.1:c.81-9C>G
  • NM_001408426.1:c.81-9C>G
  • NM_001408427.1:c.81-9C>G
  • NM_001408428.1:c.81-9C>G
  • NM_001408429.1:c.81-9C>G
  • NM_001408430.1:c.81-9C>G
  • NM_001408431.1:c.81-9C>G
  • NM_001408432.1:c.81-9C>G
  • NM_001408433.1:c.81-9C>G
  • NM_001408434.1:c.81-9C>G
  • NM_001408435.1:c.81-9C>G
  • NM_001408436.1:c.81-9C>G
  • NM_001408437.1:c.81-9C>G
  • NM_001408438.1:c.81-9C>G
  • NM_001408439.1:c.81-9C>G
  • NM_001408440.1:c.81-9C>G
  • NM_001408441.1:c.81-9C>G
  • NM_001408442.1:c.81-9C>G
  • NM_001408443.1:c.81-9C>G
  • NM_001408444.1:c.81-9C>G
  • NM_001408445.1:c.81-9C>G
  • NM_001408446.1:c.81-9C>G
  • NM_001408447.1:c.81-9C>G
  • NM_001408448.1:c.81-9C>G
  • NM_001408450.1:c.81-9C>G
  • NM_001408451.1:c.80+8229C>G
  • NM_001408452.1:c.-61-9C>G
  • NM_001408453.1:c.-61-9C>G
  • NM_001408454.1:c.-8+8229C>G
  • NM_001408455.1:c.-177-9C>G
  • NM_001408456.1:c.-177-9C>G
  • NM_001408457.1:c.-7-9255C>G
  • NM_001408458.1:c.-61-9C>G
  • NM_001408459.1:c.-8+8229C>G
  • NM_001408460.1:c.-8+8229C>G
  • NM_001408461.1:c.-8+8229C>G
  • NM_001408462.1:c.-61-9C>G
  • NM_001408463.1:c.-61-9C>G
  • NM_001408464.1:c.-8+8229C>G
  • NM_001408465.1:c.-181-9C>G
  • NM_001408466.1:c.-61-9C>G
  • NM_001408467.1:c.-8+8229C>G
  • NM_001408468.1:c.-177-9C>G
  • NM_001408469.1:c.-61-9C>G
  • NM_001408470.1:c.-61-9C>G
  • NM_001408472.1:c.81-9C>G
  • NM_001408473.1:c.81-9C>G
  • NM_001408474.1:c.81-9C>G
  • NM_001408475.1:c.81-9C>G
  • NM_001408476.1:c.81-9C>G
  • NM_001408478.1:c.-108-9C>G
  • NM_001408479.1:c.-108-9C>G
  • NM_001408480.1:c.-108-9C>G
  • NM_001408481.1:c.-108-9C>G
  • NM_001408482.1:c.-108-9C>G
  • NM_001408483.1:c.-108-9C>G
  • NM_001408484.1:c.-108-9C>G
  • NM_001408485.1:c.-108-9C>G
  • NM_001408489.1:c.-108-9C>G
  • NM_001408490.1:c.-108-9C>G
  • NM_001408491.1:c.-108-9C>G
  • NM_001408492.1:c.-224-9C>G
  • NM_001408493.1:c.-108-9C>G
  • NM_001408494.1:c.81-9C>G
  • NM_001408495.1:c.81-9C>G
  • NM_001408496.1:c.-8+8229C>G
  • NM_001408497.1:c.-61-9C>G
  • NM_001408498.1:c.-8+8229C>G
  • NM_001408499.1:c.-61-9C>G
  • NM_001408500.1:c.-61-9C>G
  • NM_001408501.1:c.-177-9C>G
  • NM_001408502.1:c.-108-9C>G
  • NM_001408503.1:c.-61-9C>G
  • NM_001408504.1:c.-61-9C>G
  • NM_001408505.1:c.-61-9C>G
  • NM_001408506.1:c.-108-9C>G
  • NM_001408507.1:c.-108-9C>G
  • NM_001408508.1:c.-108-9C>G
  • NM_001408509.1:c.-108-9C>G
  • NM_001408510.1:c.-223-9C>G
  • NM_001408511.1:c.-7-9255C>G
  • NM_001408512.1:c.-223-9C>G
  • NM_001408513.1:c.-108-9C>G
  • NM_001408514.1:c.-108-9C>G
  • NM_007294.4:c.81-9C>GMANE SELECT
  • NM_007297.4:c.-8+8229C>G
  • NM_007298.4:c.81-9C>G
  • NM_007299.4:c.81-9C>G
  • NM_007300.4:c.81-9C>G
  • LRG_292t1:c.81-9C>G
  • LRG_292:g.102196C>G
  • NC_000017.10:g.41267805G>C
  • NM_007294.3:c.81-9C>G
  • U14680.1:n.200-9C>G
Links:
Breast Cancer Information Core (BIC) (BRCA1): 200-9&base_change=C to G; dbSNP: rs80358127
NCBI 1000 Genomes Browser:
rs80358127
Molecular consequence:
  • NM_001407571.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.-181-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5770C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5770C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-57-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.-224-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.-224-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9489C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.-223-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.-223-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9483C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.-339-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9483C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9489C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.-181-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.-224-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.-223-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.-223-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
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
SCV000077165Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 21, 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

Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH.

Joosse SA, Brandwijk KI, Devilee P, Wesseling J, Hogervorst FB, Verhoef S, Nederlof PM.

Breast Cancer Res Treat. 2012 Apr;132(2):379-89. doi: 10.1007/s10549-010-1016-7. Epub 2010 Jul 8.

PubMed [citation]
PMID:
20614180

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A, Santamarina M, Blanco A, Fachal L, Southey MC, Lafferty A, Colombo M, De Vecchi G, Radice P, Spurdle AB; ENIGMA consortium..

Hum Mutat. 2013 Oct;34(10):1424-31. doi: 10.1002/humu.22388. Epub 2013 Aug 13.

PubMed [citation]
PMID:
23893897
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000077165.10

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

Description

For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in aberrant mRNA splicing and introduces a premature termination codon (PMID: 20614180, 23893897, 30209399). The resulting mRNA is expected to undergo nonsense-mediated decay. Experimental studies have shown that this variant affects BRCA1 function (PMID: 30209399). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 30415210). ClinVar contains an entry for this variant (Variation ID: 55719). This variant is also known as IVS2-9C>G. This variant has been observed in individual(s) with breast cancer (PMID: 18704682). This variant is present in population databases (rs80358127, gnomAD 0.006%). This sequence change falls in intron 2 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.

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

Last Updated: Oct 8, 2024