NM_007294.4(BRCA1):c.5333-2A>T AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 17, 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:
- RCV000580882.15
Allele description [Variation Report for NM_007294.4(BRCA1):c.5333-2A>T]
NM_007294.4(BRCA1):c.5333-2A>T
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.5333-2A>T
- HGVS:
- NC_000017.11:g.43049196T>A
- NG_005905.2:g.168788A>T
- NM_001407571.1:c.5120-2A>T
- NM_001407581.1:c.5399-2A>T
- NM_001407582.1:c.5399-2A>T
- NM_001407583.1:c.5396-2A>T
- NM_001407585.1:c.5396-2A>T
- NM_001407587.1:c.5396-2A>T
- NM_001407590.1:c.5393-2A>T
- NM_001407591.1:c.5393-2A>T
- NM_001407593.1:c.5333-2A>T
- NM_001407594.1:c.5333-2A>T
- NM_001407596.1:c.5333-2A>T
- NM_001407597.1:c.5333-2A>T
- NM_001407598.1:c.5333-2A>T
- NM_001407602.1:c.5333-2A>T
- NM_001407603.1:c.5333-2A>T
- NM_001407605.1:c.5333-2A>T
- NM_001407610.1:c.5330-2A>T
- NM_001407611.1:c.5330-2A>T
- NM_001407612.1:c.5330-2A>T
- NM_001407613.1:c.5330-2A>T
- NM_001407614.1:c.5330-2A>T
- NM_001407615.1:c.5330-2A>T
- NM_001407616.1:c.5330-2A>T
- NM_001407617.1:c.5330-2A>T
- NM_001407618.1:c.5330-2A>T
- NM_001407619.1:c.5330-2A>T
- NM_001407620.1:c.5330-2A>T
- NM_001407621.1:c.5330-2A>T
- NM_001407622.1:c.5330-2A>T
- NM_001407623.1:c.5330-2A>T
- NM_001407624.1:c.5330-2A>T
- NM_001407625.1:c.5330-2A>T
- NM_001407626.1:c.5330-2A>T
- NM_001407627.1:c.5327-2A>T
- NM_001407628.1:c.5327-2A>T
- NM_001407629.1:c.5327-2A>T
- NM_001407630.1:c.5327-2A>T
- NM_001407631.1:c.5327-2A>T
- NM_001407632.1:c.5327-2A>T
- NM_001407633.1:c.5327-2A>T
- NM_001407634.1:c.5327-2A>T
- NM_001407635.1:c.5327-2A>T
- NM_001407636.1:c.5327-2A>T
- NM_001407637.1:c.5327-2A>T
- NM_001407638.1:c.5327-2A>T
- NM_001407639.1:c.5327-2A>T
- NM_001407640.1:c.5327-2A>T
- NM_001407641.1:c.5327-2A>T
- NM_001407642.1:c.5327-2A>T
- NM_001407644.1:c.5324-2A>T
- NM_001407645.1:c.5324-2A>T
- NM_001407646.1:c.5321-2A>T
- NM_001407647.1:c.5318-2A>T
- NM_001407648.1:c.5276-2A>T
- NM_001407649.1:c.5273-2A>T
- NM_001407652.1:c.5255-2A>T
- NM_001407653.1:c.5255-2A>T
- NM_001407654.1:c.5255-2A>T
- NM_001407655.1:c.5255-2A>T
- NM_001407656.1:c.5252-2A>T
- NM_001407657.1:c.5252-2A>T
- NM_001407658.1:c.5252-2A>T
- NM_001407659.1:c.5249-2A>T
- NM_001407660.1:c.5249-2A>T
- NM_001407661.1:c.5249-2A>T
- NM_001407662.1:c.5249-2A>T
- NM_001407663.1:c.5249-2A>T
- NM_001407664.1:c.5210-2A>T
- NM_001407665.1:c.5210-2A>T
- NM_001407666.1:c.5210-2A>T
- NM_001407667.1:c.5210-2A>T
- NM_001407668.1:c.5210-2A>T
- NM_001407669.1:c.5210-2A>T
- NM_001407670.1:c.5207-2A>T
- NM_001407671.1:c.5207-2A>T
- NM_001407672.1:c.5207-2A>T
- NM_001407673.1:c.5207-2A>T
- NM_001407674.1:c.5207-2A>T
- NM_001407675.1:c.5207-2A>T
- NM_001407676.1:c.5207-2A>T
- NM_001407677.1:c.5207-2A>T
- NM_001407678.1:c.5207-2A>T
- NM_001407679.1:c.5207-2A>T
- NM_001407680.1:c.5207-2A>T
- NM_001407681.1:c.5204-2A>T
- NM_001407682.1:c.5204-2A>T
- NM_001407683.1:c.5204-2A>T
- NM_001407684.1:c.5278-1493A>T
- NM_001407685.1:c.5204-2A>T
- NM_001407686.1:c.5204-2A>T
- NM_001407687.1:c.5204-2A>T
- NM_001407688.1:c.5204-2A>T
- NM_001407689.1:c.5204-2A>T
- NM_001407690.1:c.5201-2A>T
- NM_001407691.1:c.5201-2A>T
- NM_001407692.1:c.5192-2A>T
- NM_001407694.1:c.5192-2A>T
- NM_001407695.1:c.5192-2A>T
- NM_001407696.1:c.5192-2A>T
- NM_001407697.1:c.5192-2A>T
- NM_001407698.1:c.5192-2A>T
- NM_001407724.1:c.5192-2A>T
- NM_001407725.1:c.5192-2A>T
- NM_001407726.1:c.5192-2A>T
- NM_001407727.1:c.5192-2A>T
- NM_001407728.1:c.5192-2A>T
- NM_001407729.1:c.5192-2A>T
- NM_001407730.1:c.5192-2A>T
- NM_001407731.1:c.5192-2A>T
- NM_001407732.1:c.5189-2A>T
- NM_001407733.1:c.5189-2A>T
- NM_001407734.1:c.5189-2A>T
- NM_001407735.1:c.5189-2A>T
- NM_001407736.1:c.5189-2A>T
- NM_001407737.1:c.5189-2A>T
- NM_001407738.1:c.5189-2A>T
- NM_001407739.1:c.5189-2A>T
- NM_001407740.1:c.5189-2A>T
- NM_001407741.1:c.5189-2A>T
- NM_001407742.1:c.5189-2A>T
- NM_001407743.1:c.5189-2A>T
- NM_001407744.1:c.5189-2A>T
- NM_001407745.1:c.5189-2A>T
- NM_001407746.1:c.5189-2A>T
- NM_001407747.1:c.5189-2A>T
- NM_001407748.1:c.5189-2A>T
- NM_001407749.1:c.5189-2A>T
- NM_001407750.1:c.5189-2A>T
- NM_001407751.1:c.5189-2A>T
- NM_001407752.1:c.5189-2A>T
- NM_001407838.1:c.5186-2A>T
- NM_001407839.1:c.5186-2A>T
- NM_001407841.1:c.5186-2A>T
- NM_001407842.1:c.5186-2A>T
- NM_001407843.1:c.5186-2A>T
- NM_001407844.1:c.5186-2A>T
- NM_001407845.1:c.5186-2A>T
- NM_001407846.1:c.5186-2A>T
- NM_001407847.1:c.5186-2A>T
- NM_001407848.1:c.5186-2A>T
- NM_001407849.1:c.5186-2A>T
- NM_001407850.1:c.5186-2A>T
- NM_001407851.1:c.5186-2A>T
- NM_001407852.1:c.5186-2A>T
- NM_001407853.1:c.5186-2A>T
- NM_001407854.1:c.5333-1493A>T
- NM_001407858.1:c.5330-1493A>T
- NM_001407859.1:c.5330-1493A>T
- NM_001407860.1:c.5330-1493A>T
- NM_001407861.1:c.5327-1493A>T
- NM_001407862.1:c.5132-2A>T
- NM_001407863.1:c.5129-2A>T
- NM_001407874.1:c.5126-2A>T
- NM_001407875.1:c.5126-2A>T
- NM_001407879.1:c.5123-2A>T
- NM_001407881.1:c.5123-2A>T
- NM_001407882.1:c.5123-2A>T
- NM_001407884.1:c.5123-2A>T
- NM_001407885.1:c.5123-2A>T
- NM_001407886.1:c.5123-2A>T
- NM_001407887.1:c.5123-2A>T
- NM_001407889.1:c.5123-2A>T
- NM_001407894.1:c.5120-2A>T
- NM_001407895.1:c.5120-2A>T
- NM_001407896.1:c.5120-2A>T
- NM_001407897.1:c.5120-2A>T
- NM_001407898.1:c.5120-2A>T
- NM_001407899.1:c.5120-2A>T
- NM_001407900.1:c.5120-2A>T
- NM_001407902.1:c.5120-2A>T
- NM_001407904.1:c.5120-2A>T
- NM_001407906.1:c.5120-2A>T
- NM_001407907.1:c.5120-2A>T
- NM_001407908.1:c.5120-2A>T
- NM_001407909.1:c.5120-2A>T
- NM_001407910.1:c.5120-2A>T
- NM_001407915.1:c.5117-2A>T
- NM_001407916.1:c.5117-2A>T
- NM_001407917.1:c.5117-2A>T
- NM_001407918.1:c.5117-2A>T
- NM_001407919.1:c.5155-1493A>T
- NM_001407920.1:c.5069-2A>T
- NM_001407921.1:c.5069-2A>T
- NM_001407922.1:c.5069-2A>T
- NM_001407923.1:c.5069-2A>T
- NM_001407924.1:c.5069-2A>T
- NM_001407925.1:c.5069-2A>T
- NM_001407926.1:c.5069-2A>T
- NM_001407927.1:c.5066-2A>T
- NM_001407928.1:c.5066-2A>T
- NM_001407929.1:c.5066-2A>T
- NM_001407930.1:c.5066-2A>T
- NM_001407931.1:c.5066-2A>T
- NM_001407932.1:c.5066-2A>T
- NM_001407933.1:c.5066-2A>T
- NM_001407934.1:c.5063-2A>T
- NM_001407935.1:c.5063-2A>T
- NM_001407936.1:c.5063-2A>T
- NM_001407937.1:c.5210-1493A>T
- NM_001407938.1:c.5210-1493A>T
- NM_001407939.1:c.5207-1493A>T
- NM_001407940.1:c.5207-1493A>T
- NM_001407941.1:c.5204-1493A>T
- NM_001407942.1:c.5192-1493A>T
- NM_001407943.1:c.5189-1493A>T
- NM_001407944.1:c.5189-1493A>T
- NM_001407945.1:c.5189-1493A>T
- NM_001407946.1:c.5000-2A>T
- NM_001407947.1:c.5000-2A>T
- NM_001407948.1:c.5000-2A>T
- NM_001407949.1:c.5000-2A>T
- NM_001407950.1:c.4997-2A>T
- NM_001407951.1:c.4997-2A>T
- NM_001407952.1:c.4997-2A>T
- NM_001407953.1:c.4997-2A>T
- NM_001407954.1:c.4997-2A>T
- NM_001407955.1:c.4997-2A>T
- NM_001407956.1:c.4994-2A>T
- NM_001407957.1:c.4994-2A>T
- NM_001407958.1:c.4994-2A>T
- NM_001407959.1:c.4952-2A>T
- NM_001407960.1:c.4949-2A>T
- NM_001407962.1:c.4949-2A>T
- NM_001407963.1:c.4946-2A>T
- NM_001407964.1:c.4871-2A>T
- NM_001407965.1:c.4826-2A>T
- NM_001407966.1:c.4445-2A>T
- NM_001407967.1:c.4442-2A>T
- NM_001407968.1:c.2729-2A>T
- NM_001407969.1:c.2726-2A>T
- NM_001407970.1:c.2090-2A>T
- NM_001407971.1:c.2090-2A>T
- NM_001407972.1:c.2087-2A>T
- NM_001407973.1:c.2024-2A>T
- NM_001407974.1:c.2024-2A>T
- NM_001407975.1:c.2024-2A>T
- NM_001407976.1:c.2024-2A>T
- NM_001407977.1:c.2024-2A>T
- NM_001407978.1:c.2024-2A>T
- NM_001407979.1:c.2021-2A>T
- NM_001407980.1:c.2021-2A>T
- NM_001407981.1:c.2021-2A>T
- NM_001407982.1:c.2021-2A>T
- NM_001407983.1:c.2021-2A>T
- NM_001407984.1:c.2021-2A>T
- NM_001407985.1:c.2021-2A>T
- NM_001407986.1:c.2021-2A>T
- NM_001407990.1:c.2021-2A>T
- NM_001407991.1:c.2021-2A>T
- NM_001407992.1:c.2021-2A>T
- NM_001407993.1:c.2021-2A>T
- NM_001408392.1:c.2018-2A>T
- NM_001408396.1:c.2018-2A>T
- NM_001408397.1:c.2018-2A>T
- NM_001408398.1:c.2018-2A>T
- NM_001408399.1:c.2018-2A>T
- NM_001408400.1:c.2018-2A>T
- NM_001408401.1:c.2018-2A>T
- NM_001408402.1:c.2018-2A>T
- NM_001408403.1:c.2018-2A>T
- NM_001408404.1:c.2018-2A>T
- NM_001408406.1:c.2015-2A>T
- NM_001408407.1:c.2015-2A>T
- NM_001408408.1:c.2015-2A>T
- NM_001408409.1:c.2012-2A>T
- NM_001408410.1:c.1949-2A>T
- NM_001408411.1:c.1946-2A>T
- NM_001408412.1:c.1943-2A>T
- NM_001408413.1:c.1943-2A>T
- NM_001408414.1:c.1943-2A>T
- NM_001408415.1:c.1943-2A>T
- NM_001408416.1:c.1943-2A>T
- NM_001408418.1:c.1907-2A>T
- NM_001408419.1:c.1907-2A>T
- NM_001408420.1:c.1907-2A>T
- NM_001408421.1:c.1904-2A>T
- NM_001408422.1:c.1904-2A>T
- NM_001408423.1:c.1904-2A>T
- NM_001408424.1:c.1904-2A>T
- NM_001408425.1:c.1901-2A>T
- NM_001408426.1:c.1901-2A>T
- NM_001408427.1:c.1901-2A>T
- NM_001408428.1:c.1901-2A>T
- NM_001408429.1:c.1901-2A>T
- NM_001408430.1:c.1901-2A>T
- NM_001408431.1:c.1901-2A>T
- NM_001408432.1:c.1898-2A>T
- NM_001408433.1:c.1898-2A>T
- NM_001408434.1:c.1898-2A>T
- NM_001408435.1:c.1898-2A>T
- NM_001408436.1:c.1898-2A>T
- NM_001408437.1:c.1898-2A>T
- NM_001408438.1:c.1898-2A>T
- NM_001408439.1:c.1898-2A>T
- NM_001408440.1:c.1898-2A>T
- NM_001408441.1:c.1898-2A>T
- NM_001408442.1:c.1898-2A>T
- NM_001408443.1:c.1898-2A>T
- NM_001408444.1:c.1898-2A>T
- NM_001408445.1:c.1895-2A>T
- NM_001408446.1:c.1895-2A>T
- NM_001408447.1:c.1895-2A>T
- NM_001408448.1:c.1895-2A>T
- NM_001408450.1:c.1895-2A>T
- NM_001408451.1:c.1889-2A>T
- NM_001408452.1:c.1883-2A>T
- NM_001408453.1:c.1883-2A>T
- NM_001408454.1:c.1883-2A>T
- NM_001408455.1:c.1883-2A>T
- NM_001408456.1:c.1883-2A>T
- NM_001408457.1:c.1883-2A>T
- NM_001408458.1:c.1880-2A>T
- NM_001408459.1:c.1880-2A>T
- NM_001408460.1:c.1880-2A>T
- NM_001408461.1:c.1880-2A>T
- NM_001408462.1:c.1880-2A>T
- NM_001408463.1:c.1880-2A>T
- NM_001408464.1:c.1880-2A>T
- NM_001408465.1:c.1880-2A>T
- NM_001408466.1:c.1880-2A>T
- NM_001408467.1:c.1880-2A>T
- NM_001408468.1:c.1877-2A>T
- NM_001408469.1:c.1877-2A>T
- NM_001408470.1:c.1877-2A>T
- NM_001408472.1:c.2021-1493A>T
- NM_001408473.1:c.2018-1493A>T
- NM_001408474.1:c.1823-2A>T
- NM_001408475.1:c.1820-2A>T
- NM_001408476.1:c.1820-2A>T
- NM_001408478.1:c.1814-2A>T
- NM_001408479.1:c.1814-2A>T
- NM_001408480.1:c.1814-2A>T
- NM_001408481.1:c.1811-2A>T
- NM_001408482.1:c.1811-2A>T
- NM_001408483.1:c.1811-2A>T
- NM_001408484.1:c.1811-2A>T
- NM_001408485.1:c.1811-2A>T
- NM_001408489.1:c.1811-2A>T
- NM_001408490.1:c.1811-2A>T
- NM_001408491.1:c.1811-2A>T
- NM_001408492.1:c.1808-2A>T
- NM_001408493.1:c.1808-2A>T
- NM_001408494.1:c.1784-2A>T
- NM_001408495.1:c.1778-2A>T
- NM_001408496.1:c.1760-2A>T
- NM_001408497.1:c.1760-2A>T
- NM_001408498.1:c.1760-2A>T
- NM_001408499.1:c.1760-2A>T
- NM_001408500.1:c.1760-2A>T
- NM_001408501.1:c.1760-2A>T
- NM_001408502.1:c.1757-2A>T
- NM_001408503.1:c.1757-2A>T
- NM_001408504.1:c.1757-2A>T
- NM_001408505.1:c.1754-2A>T
- NM_001408506.1:c.1697-2A>T
- NM_001408507.1:c.1694-2A>T
- NM_001408508.1:c.1685-2A>T
- NM_001408509.1:c.1682-2A>T
- NM_001408510.1:c.1643-2A>T
- NM_001408511.1:c.1640-2A>T
- NM_001408512.1:c.1520-2A>T
- NM_001408513.1:c.1493-2A>T
- NM_001408514.1:c.1097-2A>T
- NM_007294.4:c.5333-2A>TMANE SELECT
- NM_007297.4:c.5192-2A>T
- NM_007298.4:c.2021-2A>T
- NM_007299.4:c.2021-1493A>T
- NM_007300.4:c.5396-2A>T
- LRG_292t1:c.5333-2A>T
- LRG_292:g.168788A>T
- NC_000017.10:g.41201213T>A
- NM_007294.3:c.5333-2A>T
This HGVS expression did not pass validation- Nucleotide change:
- IVS21-2A>T
- Links:
- dbSNP: rs397509264
- NCBI 1000 Genomes Browser:
- rs397509264
- Molecular consequence:
- NM_001407684.1:c.5278-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407854.1:c.5333-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407858.1:c.5330-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407859.1:c.5330-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407860.1:c.5330-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407861.1:c.5327-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407919.1:c.5155-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407937.1:c.5210-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407938.1:c.5210-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407939.1:c.5207-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407940.1:c.5207-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407941.1:c.5204-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407942.1:c.5192-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407943.1:c.5189-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407944.1:c.5189-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.5189-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.2021-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.2018-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.2021-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407581.1:c.5399-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407582.1:c.5399-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407583.1:c.5396-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407585.1:c.5396-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407587.1:c.5396-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407590.1:c.5393-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407591.1:c.5393-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407593.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407594.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407596.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407597.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407598.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407602.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407603.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407605.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407610.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407611.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407612.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407613.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407614.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407615.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407616.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407617.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407618.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407619.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407620.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407621.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407622.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407623.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407624.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407625.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407626.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407627.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407628.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407629.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407630.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407631.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407632.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407633.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407634.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407635.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407636.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407637.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407638.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407639.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407640.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407641.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407642.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407644.1:c.5324-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407645.1:c.5324-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407646.1:c.5321-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407647.1:c.5318-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407648.1:c.5276-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407649.1:c.5273-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407652.1:c.5255-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407653.1:c.5255-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407654.1:c.5255-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407655.1:c.5255-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407656.1:c.5252-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407657.1:c.5252-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407658.1:c.5252-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407659.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407660.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407661.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407662.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407663.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407664.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407665.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407666.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407667.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407668.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407669.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407670.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407671.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407672.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407673.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407674.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407675.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407676.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407677.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407678.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407679.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407680.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407681.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407682.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407683.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407685.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407686.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407687.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407688.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407689.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407690.1:c.5201-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407691.1:c.5201-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407692.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407694.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407695.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407696.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407697.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407698.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407724.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407725.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407726.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407727.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407728.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407729.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407730.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407731.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407732.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407733.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407734.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407735.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407736.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407737.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407738.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407739.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407740.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407741.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407742.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407743.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407744.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407745.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407746.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407747.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407748.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407749.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407750.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407751.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407752.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407838.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407839.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407841.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407842.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407843.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407844.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407845.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407846.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407847.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407848.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407849.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407850.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407851.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407852.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407853.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407862.1:c.5132-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407863.1:c.5129-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407874.1:c.5126-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407875.1:c.5126-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407879.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407881.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407882.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407884.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407885.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407886.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407887.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407889.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407894.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407895.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407896.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407897.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407898.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407899.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407900.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407902.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407904.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407906.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407907.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407908.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407909.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407910.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407915.1:c.5117-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407916.1:c.5117-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407917.1:c.5117-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407918.1:c.5117-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407920.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407921.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407922.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407923.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407924.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407925.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407926.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407927.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407928.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407929.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407930.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407931.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407932.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407933.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407934.1:c.5063-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407935.1:c.5063-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407936.1:c.5063-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407946.1:c.5000-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407947.1:c.5000-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407948.1:c.5000-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407949.1:c.5000-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407950.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407951.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407952.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407953.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407954.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407955.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407956.1:c.4994-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407957.1:c.4994-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407958.1:c.4994-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407959.1:c.4952-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407960.1:c.4949-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407962.1:c.4949-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407963.1:c.4946-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407964.1:c.4871-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407965.1:c.4826-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407966.1:c.4445-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407967.1:c.4442-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407968.1:c.2729-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407969.1:c.2726-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407970.1:c.2090-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407971.1:c.2090-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407972.1:c.2087-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407973.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407974.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407975.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407976.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407977.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407978.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407979.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407980.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407981.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407982.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407983.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407984.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407985.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407986.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407990.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407991.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407992.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407993.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408392.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408396.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408397.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408398.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408399.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408400.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408401.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408402.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408403.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408404.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408406.1:c.2015-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408407.1:c.2015-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408408.1:c.2015-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408409.1:c.2012-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408410.1:c.1949-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408411.1:c.1946-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408412.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408413.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408414.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408415.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408416.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408418.1:c.1907-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408419.1:c.1907-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408420.1:c.1907-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408421.1:c.1904-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408422.1:c.1904-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408423.1:c.1904-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408424.1:c.1904-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408425.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408426.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408427.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408428.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408429.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408430.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408431.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408432.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408433.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408434.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408435.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408436.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408437.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408438.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408439.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408440.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408441.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408442.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408443.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408444.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408445.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408446.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408447.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408448.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408450.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408451.1:c.1889-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408452.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408453.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408454.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408455.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408456.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408457.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408458.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408459.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408460.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408461.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408462.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408463.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408464.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408465.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408466.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408467.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408468.1:c.1877-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408469.1:c.1877-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408470.1:c.1877-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408474.1:c.1823-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408475.1:c.1820-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408476.1:c.1820-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408478.1:c.1814-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408479.1:c.1814-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408480.1:c.1814-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408481.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408482.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408483.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408484.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408485.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408489.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408490.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408491.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408492.1:c.1808-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408493.1:c.1808-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408494.1:c.1784-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408495.1:c.1778-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408496.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408497.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408498.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408499.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408500.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408501.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408502.1:c.1757-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408503.1:c.1757-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408504.1:c.1757-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408505.1:c.1754-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408506.1:c.1697-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408507.1:c.1694-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408508.1:c.1685-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408509.1:c.1682-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408510.1:c.1643-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408511.1:c.1640-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408512.1:c.1520-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408513.1:c.1493-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408514.1:c.1097-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007294.4:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007297.4:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007298.4:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007300.4:c.5396-2A>T - 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.5333-2A>T, a CANONICAL SPLICE variant, produced a function score of -1.75, 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.
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
JGI_CAAO2942.fwd NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO2942 5', mRNA...
JGI_CAAO2942.fwd NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO2942 5', mRNA sequencegi|58723302|gnl|dbEST|27640463|gb|C 44.1|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000683294 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic (Dec 14, 2019) | germline | clinical testing | |
SCV003911973 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Jan 17, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group., Haffty BG.
Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.
- PMID:
- 22798144
Details of each submission
From Color Diagnostics, LLC DBA Color Health, SCV000683294.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant causes an A>T nucleotide substitution at the -2 position of intron 20 of the BRCA1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. A functional study reported this variant as defective in a haploid cell proliferation assay (PMID: 30209399). This variant has been observed in at least one individual with triple-negative breast cancer (PMID: 30350268) and additional individuals considered at-risk for breast and/or ovarian cancer (PMID: 22798144, 29673794). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Likely Pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Ambry Genetics, SCV003911973.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (5) |
Description
The c.5333-2A>T intronic pathogenic mutation results from an A to T substitution two nucleotides upstream from coding exon 20 in the BRCA1 gene. This alteration has been reported in several Korean breast cancer cohorts (Kim H et al. Breast Cancer Res Treat, 2012 Aug;134:1315-26; Kim DH et al. BMC Med Genet, 2017 Mar;18:38) and in 1 of 999 Korean triple negative breast cancer patients undergoing BRCA1/2 genetic testing (Ryu JM et al. Breast Cancer Res Treat, 2019 Jan;173:385-395). This variant was also reported in 1/60,466 breast cancer cases and in 2/53,461 controls (Dorling et al. N Engl J Med. 2021 02;384:428-439). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 Oct;562:217-222). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). In addition to the data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 26, 2024