NM_007294.4(BRCA1):c.81-1G>C AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Dec 22, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000258470.17
Allele description [Variation Report for NM_007294.4(BRCA1):c.81-1G>C]
NM_007294.4(BRCA1):c.81-1G>C
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.81-1G>C
- HGVS:
- NC_000017.11:g.43115780C>G
- NG_005905.2:g.102204G>C
- NM_001407571.1:c.-108-1G>C
- NM_001407581.1:c.81-1G>C
- NM_001407582.1:c.81-1G>C
- NM_001407583.1:c.81-1G>C
- NM_001407585.1:c.81-1G>C
- NM_001407587.1:c.81-1G>C
- NM_001407590.1:c.81-1G>C
- NM_001407591.1:c.81-1G>C
- NM_001407593.1:c.81-1G>C
- NM_001407594.1:c.81-1G>C
- NM_001407596.1:c.81-1G>C
- NM_001407597.1:c.81-1G>C
- NM_001407598.1:c.81-1G>C
- NM_001407602.1:c.81-1G>C
- NM_001407603.1:c.81-1G>C
- NM_001407605.1:c.81-1G>C
- NM_001407610.1:c.81-1G>C
- NM_001407611.1:c.81-1G>C
- NM_001407612.1:c.81-1G>C
- NM_001407613.1:c.81-1G>C
- NM_001407614.1:c.81-1G>C
- NM_001407615.1:c.81-1G>C
- NM_001407616.1:c.81-1G>C
- NM_001407617.1:c.81-1G>C
- NM_001407618.1:c.81-1G>C
- NM_001407619.1:c.81-1G>C
- NM_001407620.1:c.81-1G>C
- NM_001407621.1:c.81-1G>C
- NM_001407622.1:c.81-1G>C
- NM_001407623.1:c.81-1G>C
- NM_001407624.1:c.81-1G>C
- NM_001407625.1:c.81-1G>C
- NM_001407626.1:c.81-1G>C
- NM_001407627.1:c.81-1G>C
- NM_001407628.1:c.81-1G>C
- NM_001407629.1:c.81-1G>C
- NM_001407630.1:c.81-1G>C
- NM_001407631.1:c.81-1G>C
- NM_001407632.1:c.81-1G>C
- NM_001407633.1:c.81-1G>C
- NM_001407634.1:c.81-1G>C
- NM_001407635.1:c.81-1G>C
- NM_001407636.1:c.81-1G>C
- NM_001407637.1:c.81-1G>C
- NM_001407638.1:c.81-1G>C
- NM_001407639.1:c.81-1G>C
- NM_001407640.1:c.81-1G>C
- NM_001407641.1:c.81-1G>C
- NM_001407642.1:c.81-1G>C
- NM_001407644.1:c.81-1G>C
- NM_001407645.1:c.81-1G>C
- NM_001407646.1:c.81-1G>C
- NM_001407647.1:c.81-1G>C
- NM_001407648.1:c.81-1G>C
- NM_001407649.1:c.81-1G>C
- NM_001407652.1:c.81-1G>C
- NM_001407653.1:c.81-1G>C
- NM_001407654.1:c.81-1G>C
- NM_001407655.1:c.81-1G>C
- NM_001407656.1:c.81-1G>C
- NM_001407657.1:c.81-1G>C
- NM_001407658.1:c.81-1G>C
- NM_001407659.1:c.81-1G>C
- NM_001407660.1:c.81-1G>C
- NM_001407661.1:c.81-1G>C
- NM_001407662.1:c.81-1G>C
- NM_001407663.1:c.81-1G>C
- NM_001407664.1:c.81-1G>C
- NM_001407665.1:c.81-1G>C
- NM_001407666.1:c.81-1G>C
- NM_001407667.1:c.81-1G>C
- NM_001407668.1:c.81-1G>C
- NM_001407669.1:c.81-1G>C
- NM_001407670.1:c.81-1G>C
- NM_001407671.1:c.81-1G>C
- NM_001407672.1:c.81-1G>C
- NM_001407673.1:c.81-1G>C
- NM_001407674.1:c.81-1G>C
- NM_001407675.1:c.81-1G>C
- NM_001407676.1:c.81-1G>C
- NM_001407677.1:c.81-1G>C
- NM_001407678.1:c.81-1G>C
- NM_001407679.1:c.81-1G>C
- NM_001407680.1:c.81-1G>C
- NM_001407681.1:c.81-1G>C
- NM_001407682.1:c.81-1G>C
- NM_001407683.1:c.81-1G>C
- NM_001407684.1:c.81-1G>C
- NM_001407685.1:c.81-1G>C
- NM_001407686.1:c.81-1G>C
- NM_001407687.1:c.81-1G>C
- NM_001407688.1:c.81-1G>C
- NM_001407689.1:c.81-1G>C
- NM_001407690.1:c.81-1G>C
- NM_001407691.1:c.81-1G>C
- NM_001407692.1:c.-7-9247G>C
- NM_001407694.1:c.-177-1G>C
- NM_001407695.1:c.-181-1G>C
- NM_001407696.1:c.-177-1G>C
- NM_001407697.1:c.-61-1G>C
- NM_001407698.1:c.-8+8237G>C
- NM_001407724.1:c.-177-1G>C
- NM_001407725.1:c.-61-1G>C
- NM_001407726.1:c.-8+5778G>C
- NM_001407727.1:c.-177-1G>C
- NM_001407728.1:c.-61-1G>C
- NM_001407729.1:c.-61-1G>C
- NM_001407730.1:c.-61-1G>C
- NM_001407731.1:c.-177-1G>C
- NM_001407732.1:c.-8+8237G>C
- NM_001407733.1:c.-177-1G>C
- NM_001407734.1:c.-61-1G>C
- NM_001407735.1:c.-61-1G>C
- NM_001407736.1:c.-8+8237G>C
- NM_001407737.1:c.-61-1G>C
- NM_001407738.1:c.-8+8237G>C
- NM_001407739.1:c.-61-1G>C
- NM_001407740.1:c.-61-1G>C
- NM_001407741.1:c.-61-1G>C
- NM_001407742.1:c.-8+8237G>C
- NM_001407743.1:c.-61-1G>C
- NM_001407744.1:c.-8+8237G>C
- NM_001407745.1:c.-61-1G>C
- NM_001407746.1:c.-177-1G>C
- NM_001407747.1:c.-7-9247G>C
- NM_001407748.1:c.-61-1G>C
- NM_001407749.1:c.-177-1G>C
- NM_001407750.1:c.-8+8237G>C
- NM_001407751.1:c.-8+5778G>C
- NM_001407752.1:c.-61-1G>C
- NM_001407838.1:c.-61-1G>C
- NM_001407839.1:c.-61-1G>C
- NM_001407841.1:c.-57-1G>C
- NM_001407842.1:c.-177-1G>C
- NM_001407843.1:c.-177-1G>C
- NM_001407844.1:c.-61-1G>C
- NM_001407845.1:c.-8+8237G>C
- NM_001407846.1:c.-61-1G>C
- NM_001407847.1:c.-61-1G>C
- NM_001407848.1:c.-61-1G>C
- NM_001407849.1:c.-8+8237G>C
- NM_001407850.1:c.-61-1G>C
- NM_001407851.1:c.-61-1G>C
- NM_001407852.1:c.-8+8237G>C
- NM_001407853.1:c.-108-1G>C
- NM_001407854.1:c.81-1G>C
- NM_001407858.1:c.81-1G>C
- NM_001407859.1:c.81-1G>C
- NM_001407860.1:c.81-1G>C
- NM_001407861.1:c.81-1G>C
- NM_001407862.1:c.81-1G>C
- NM_001407863.1:c.81-1G>C
- NM_001407874.1:c.81-1G>C
- NM_001407875.1:c.81-1G>C
- NM_001407879.1:c.-108-1G>C
- NM_001407881.1:c.-55+8237G>C
- NM_001407882.1:c.-108-1G>C
- NM_001407884.1:c.-108-1G>C
- NM_001407885.1:c.-108-1G>C
- NM_001407886.1:c.-108-1G>C
- NM_001407887.1:c.-108-1G>C
- NM_001407889.1:c.-224-1G>C
- NM_001407894.1:c.-108-1G>C
- NM_001407895.1:c.-108-1G>C
- NM_001407896.1:c.-108-1G>C
- NM_001407897.1:c.-108-1G>C
- NM_001407898.1:c.-55+8237G>C
- NM_001407899.1:c.-108-1G>C
- NM_001407900.1:c.-224-1G>C
- NM_001407902.1:c.-55+8237G>C
- NM_001407904.1:c.-108-1G>C
- NM_001407906.1:c.-108-1G>C
- NM_001407907.1:c.-108-1G>C
- NM_001407908.1:c.-108-1G>C
- NM_001407909.1:c.-108-1G>C
- NM_001407910.1:c.-108-1G>C
- NM_001407915.1:c.-108-1G>C
- NM_001407916.1:c.-108-1G>C
- NM_001407917.1:c.-108-1G>C
- NM_001407918.1:c.-108-1G>C
- NM_001407919.1:c.81-1G>C
- NM_001407920.1:c.-61-1G>C
- NM_001407921.1:c.-61-1G>C
- NM_001407922.1:c.-61-1G>C
- NM_001407923.1:c.-61-1G>C
- NM_001407924.1:c.-8+8237G>C
- NM_001407925.1:c.-8+8237G>C
- NM_001407926.1:c.-61-1G>C
- NM_001407927.1:c.-61-1G>C
- NM_001407928.1:c.-8+8237G>C
- NM_001407929.1:c.-8+8237G>C
- NM_001407930.1:c.-177-1G>C
- NM_001407931.1:c.-7-9247G>C
- NM_001407932.1:c.-8+8237G>C
- NM_001407933.1:c.-61-1G>C
- NM_001407934.1:c.-61-1G>C
- NM_001407935.1:c.-61-1G>C
- NM_001407936.1:c.-8+8237G>C
- NM_001407937.1:c.81-1G>C
- NM_001407938.1:c.81-1G>C
- NM_001407939.1:c.81-1G>C
- NM_001407940.1:c.81-1G>C
- NM_001407941.1:c.81-1G>C
- NM_001407942.1:c.-177-1G>C
- NM_001407943.1:c.-61-1G>C
- NM_001407944.1:c.-61-1G>C
- NM_001407945.1:c.-8+8237G>C
- NM_001407946.1:c.-108-1G>C
- NM_001407947.1:c.-108-1G>C
- NM_001407948.1:c.-108-1G>C
- NM_001407949.1:c.-108-1G>C
- NM_001407950.1:c.-108-1G>C
- NM_001407951.1:c.-108-1G>C
- NM_001407952.1:c.-108-1G>C
- NM_001407953.1:c.-108-1G>C
- NM_001407954.1:c.-108-1G>C
- NM_001407955.1:c.-108-1G>C
- NM_001407956.1:c.-108-1G>C
- NM_001407957.1:c.-108-1G>C
- NM_001407958.1:c.-108-1G>C
- NM_001407959.1:c.-170+9497G>C
- NM_001407960.1:c.-223-1G>C
- NM_001407962.1:c.-223-1G>C
- NM_001407963.1:c.-170+9491G>C
- NM_001407964.1:c.-61-1G>C
- NM_001407965.1:c.-339-1G>C
- NM_001407966.1:c.-219+9491G>C
- NM_001407967.1:c.-219+9497G>C
- NM_001407968.1:c.81-1G>C
- NM_001407969.1:c.81-1G>C
- NM_001407970.1:c.81-1G>C
- NM_001407971.1:c.81-1G>C
- NM_001407972.1:c.81-1G>C
- NM_001407973.1:c.81-1G>C
- NM_001407974.1:c.81-1G>C
- NM_001407975.1:c.81-1G>C
- NM_001407976.1:c.81-1G>C
- NM_001407977.1:c.81-1G>C
- NM_001407978.1:c.81-1G>C
- NM_001407979.1:c.81-1G>C
- NM_001407980.1:c.81-1G>C
- NM_001407981.1:c.81-1G>C
- NM_001407982.1:c.81-1G>C
- NM_001407983.1:c.81-1G>C
- NM_001407984.1:c.81-1G>C
- NM_001407985.1:c.81-1G>C
- NM_001407986.1:c.81-1G>C
- NM_001407990.1:c.81-1G>C
- NM_001407991.1:c.81-1G>C
- NM_001407992.1:c.81-1G>C
- NM_001407993.1:c.81-1G>C
- NM_001408392.1:c.81-1G>C
- NM_001408396.1:c.81-1G>C
- NM_001408397.1:c.81-1G>C
- NM_001408398.1:c.81-1G>C
- NM_001408399.1:c.81-1G>C
- NM_001408400.1:c.81-1G>C
- NM_001408401.1:c.81-1G>C
- NM_001408402.1:c.81-1G>C
- NM_001408403.1:c.81-1G>C
- NM_001408404.1:c.81-1G>C
- NM_001408406.1:c.81-1G>C
- NM_001408407.1:c.81-1G>C
- NM_001408408.1:c.81-1G>C
- NM_001408409.1:c.81-1G>C
- NM_001408410.1:c.-61-1G>C
- NM_001408411.1:c.81-1G>C
- NM_001408412.1:c.81-1G>C
- NM_001408413.1:c.81-1G>C
- NM_001408414.1:c.81-1G>C
- NM_001408415.1:c.81-1G>C
- NM_001408416.1:c.81-1G>C
- NM_001408418.1:c.81-1G>C
- NM_001408419.1:c.81-1G>C
- NM_001408420.1:c.81-1G>C
- NM_001408421.1:c.81-1G>C
- NM_001408422.1:c.81-1G>C
- NM_001408423.1:c.81-1G>C
- NM_001408424.1:c.81-1G>C
- NM_001408425.1:c.81-1G>C
- NM_001408426.1:c.81-1G>C
- NM_001408427.1:c.81-1G>C
- NM_001408428.1:c.81-1G>C
- NM_001408429.1:c.81-1G>C
- NM_001408430.1:c.81-1G>C
- NM_001408431.1:c.81-1G>C
- NM_001408432.1:c.81-1G>C
- NM_001408433.1:c.81-1G>C
- NM_001408434.1:c.81-1G>C
- NM_001408435.1:c.81-1G>C
- NM_001408436.1:c.81-1G>C
- NM_001408437.1:c.81-1G>C
- NM_001408438.1:c.81-1G>C
- NM_001408439.1:c.81-1G>C
- NM_001408440.1:c.81-1G>C
- NM_001408441.1:c.81-1G>C
- NM_001408442.1:c.81-1G>C
- NM_001408443.1:c.81-1G>C
- NM_001408444.1:c.81-1G>C
- NM_001408445.1:c.81-1G>C
- NM_001408446.1:c.81-1G>C
- NM_001408447.1:c.81-1G>C
- NM_001408448.1:c.81-1G>C
- NM_001408450.1:c.81-1G>C
- NM_001408451.1:c.80+8237G>C
- NM_001408452.1:c.-61-1G>C
- NM_001408453.1:c.-61-1G>C
- NM_001408454.1:c.-8+8237G>C
- NM_001408455.1:c.-177-1G>C
- NM_001408456.1:c.-177-1G>C
- NM_001408457.1:c.-7-9247G>C
- NM_001408458.1:c.-61-1G>C
- NM_001408459.1:c.-8+8237G>C
- NM_001408460.1:c.-8+8237G>C
- NM_001408461.1:c.-8+8237G>C
- NM_001408462.1:c.-61-1G>C
- NM_001408463.1:c.-61-1G>C
- NM_001408464.1:c.-8+8237G>C
- NM_001408465.1:c.-181-1G>C
- NM_001408466.1:c.-61-1G>C
- NM_001408467.1:c.-8+8237G>C
- NM_001408468.1:c.-177-1G>C
- NM_001408469.1:c.-61-1G>C
- NM_001408470.1:c.-61-1G>C
- NM_001408472.1:c.81-1G>C
- NM_001408473.1:c.81-1G>C
- NM_001408474.1:c.81-1G>C
- NM_001408475.1:c.81-1G>C
- NM_001408476.1:c.81-1G>C
- NM_001408478.1:c.-108-1G>C
- NM_001408479.1:c.-108-1G>C
- NM_001408480.1:c.-108-1G>C
- NM_001408481.1:c.-108-1G>C
- NM_001408482.1:c.-108-1G>C
- NM_001408483.1:c.-108-1G>C
- NM_001408484.1:c.-108-1G>C
- NM_001408485.1:c.-108-1G>C
- NM_001408489.1:c.-108-1G>C
- NM_001408490.1:c.-108-1G>C
- NM_001408491.1:c.-108-1G>C
- NM_001408492.1:c.-224-1G>C
- NM_001408493.1:c.-108-1G>C
- NM_001408494.1:c.81-1G>C
- NM_001408495.1:c.81-1G>C
- NM_001408496.1:c.-8+8237G>C
- NM_001408497.1:c.-61-1G>C
- NM_001408498.1:c.-8+8237G>C
- NM_001408499.1:c.-61-1G>C
- NM_001408500.1:c.-61-1G>C
- NM_001408501.1:c.-177-1G>C
- NM_001408502.1:c.-108-1G>C
- NM_001408503.1:c.-61-1G>C
- NM_001408504.1:c.-61-1G>C
- NM_001408505.1:c.-61-1G>C
- NM_001408506.1:c.-108-1G>C
- NM_001408507.1:c.-108-1G>C
- NM_001408508.1:c.-108-1G>C
- NM_001408509.1:c.-108-1G>C
- NM_001408510.1:c.-223-1G>C
- NM_001408511.1:c.-7-9247G>C
- NM_001408512.1:c.-223-1G>C
- NM_001408513.1:c.-108-1G>C
- NM_001408514.1:c.-108-1G>C
- NM_007294.4:c.81-1G>CMANE SELECT
- NM_007297.4:c.-8+8237G>C
- NM_007298.4:c.81-1G>C
- NM_007299.4:c.81-1G>C
- NM_007300.4:c.81-1G>C
- LRG_292t1:c.81-1G>C
- LRG_292:g.102204G>C
- NC_000017.10:g.41267797C>G
- NM_007294.3:c.81-1G>C
This HGVS expression did not pass validation- Links:
- dbSNP: rs80358018
- NCBI 1000 Genomes Browser:
- rs80358018
- Molecular consequence:
- NM_001407692.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.-8+5778G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.-8+5778G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.-55+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.-55+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.-55+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.-170+9497G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.-170+9491G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.-219+9491G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.-219+9497G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.80+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.-7-9247G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407581.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407582.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407583.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407585.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407587.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407590.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407591.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407593.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407594.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407596.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407597.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407598.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407602.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407603.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407605.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407610.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407611.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407612.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407613.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407614.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407615.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407616.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407617.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407618.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407619.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407620.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407621.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407622.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407623.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407624.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407625.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407626.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407627.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407628.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407629.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407630.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407631.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407632.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407633.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407634.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407635.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407636.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407637.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407638.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407639.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407640.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407641.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407642.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407644.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407645.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407646.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407647.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407648.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407649.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407652.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407653.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407654.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407655.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407656.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407657.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407658.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407659.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407660.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407661.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407662.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407663.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407664.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407665.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407666.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407667.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407668.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407669.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407670.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407671.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407672.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407673.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407674.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407675.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407676.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407677.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407678.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407679.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407680.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407681.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407682.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407683.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407684.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407685.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407686.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407687.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407688.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407689.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407690.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407691.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407694.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407695.1:c.-181-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407696.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407697.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407724.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407725.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407727.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407728.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407729.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407730.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407731.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407733.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407734.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407735.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407737.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407739.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407740.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407741.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407743.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407745.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407746.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407748.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407749.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407752.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407838.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407839.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407841.1:c.-57-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407842.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407843.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407844.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407846.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407847.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407848.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407850.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407851.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407853.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407854.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407858.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407859.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407860.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407861.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407862.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407863.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407874.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407875.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407879.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407882.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407884.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407885.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407886.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407887.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407889.1:c.-224-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407894.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407895.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407896.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407897.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407899.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407900.1:c.-224-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407904.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407906.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407907.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407908.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407909.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407910.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407915.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407916.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407917.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407918.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407919.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407920.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407921.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407922.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407923.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407926.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407927.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407930.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407933.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407934.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407935.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407937.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407938.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407939.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407940.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407941.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407942.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407943.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407944.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407946.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407947.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407948.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407949.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407950.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407951.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407952.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407953.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407954.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407955.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407956.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407957.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407958.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407960.1:c.-223-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407962.1:c.-223-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407964.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407965.1:c.-339-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407968.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407969.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407970.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407971.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407972.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407973.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407974.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407975.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407976.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407977.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407978.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407979.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407980.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407981.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407982.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407983.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407984.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407985.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407986.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407990.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407991.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407992.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407993.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408392.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408396.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408397.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408398.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408399.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408400.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408401.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408402.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408403.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408404.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408406.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408407.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408408.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408409.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408410.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408411.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408412.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408413.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408414.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408415.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408416.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408418.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408419.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408420.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408421.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408422.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408423.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408424.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408425.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408426.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408427.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408428.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408429.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408430.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408431.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408432.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408433.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408434.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408435.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408436.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408437.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408438.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408439.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408440.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408441.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408442.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408443.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408444.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408445.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408446.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408447.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408448.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408450.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408452.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408453.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408455.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408456.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408458.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408462.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408463.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408465.1:c.-181-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408466.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408468.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408469.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408470.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408472.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408473.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408474.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408475.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408476.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408478.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408479.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408480.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408481.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408482.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408483.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408484.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408485.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408489.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408490.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408491.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408492.1:c.-224-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408493.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408494.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408495.1:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408497.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408499.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408500.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408501.1:c.-177-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408502.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408503.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408504.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408505.1:c.-61-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408506.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408507.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408508.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408509.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408510.1:c.-223-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408512.1:c.-223-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408513.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408514.1:c.-108-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007294.4:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007298.4:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007299.4:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007300.4:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.81-1G>C, a CANONICAL SPLICE variant, produced a function score of -1.9, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
- Observations:
- 9
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000326432 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
SCV001241850 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV002580321 | MGZ Medical Genetics Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Aug 20, 2021) | germline | clinical testing | |
SCV004216942 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Dec 22, 2023) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
not provided | germline | unknown | not provided | 9 | not provided | not provided | not provided | clinical testing |
not provided | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical 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
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed [citation]
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326432.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | 9 | not provided |
From Brotman Baty Institute, University of Washington, SCV001241850.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From MGZ Medical Genetics Center, SCV002580321.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Baylor Genetics, SCV004216942.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024