NM_007294.4(BRCA1):c.5468-10C>A AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (8 submissions)
Last evaluated:: Jan 12, 2015
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000112663.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.5468-10C>A]

NM_007294.4(BRCA1):c.5468-10C>A

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.5468-10C>A

Other names:

IVS23-10C>A; IVS 23-10C>A

HGVS:

NC_000017.11:g.43045812G>T
NG_005905.2:g.172172C>A
NM_001407571.1:c.5255-10C>A
NM_001407581.1:c.5534-10C>A
NM_001407582.1:c.5534-10C>A
NM_001407583.1:c.5531-10C>A
NM_001407585.1:c.5531-10C>A
NM_001407587.1:c.5531-10C>A
NM_001407590.1:c.5528-10C>A
NM_001407591.1:c.5528-10C>A
NM_001407593.1:c.5468-10C>A
NM_001407594.1:c.5468-10C>A
NM_001407596.1:c.5468-10C>A
NM_001407597.1:c.5468-10C>A
NM_001407598.1:c.5468-10C>A
NM_001407602.1:c.5468-10C>A
NM_001407603.1:c.5468-10C>A
NM_001407605.1:c.5468-10C>A
NM_001407610.1:c.5465-10C>A
NM_001407611.1:c.5465-10C>A
NM_001407612.1:c.5465-10C>A
NM_001407613.1:c.5465-10C>A
NM_001407614.1:c.5465-10C>A
NM_001407615.1:c.5465-10C>A
NM_001407616.1:c.5465-10C>A
NM_001407617.1:c.5465-10C>A
NM_001407618.1:c.5465-10C>A
NM_001407619.1:c.5465-10C>A
NM_001407620.1:c.5465-10C>A
NM_001407621.1:c.5465-10C>A
NM_001407622.1:c.5465-10C>A
NM_001407623.1:c.5465-10C>A
NM_001407624.1:c.5465-10C>A
NM_001407625.1:c.5465-10C>A
NM_001407626.1:c.5465-10C>A
NM_001407627.1:c.5462-10C>A
NM_001407628.1:c.5462-10C>A
NM_001407629.1:c.5462-10C>A
NM_001407630.1:c.5462-10C>A
NM_001407631.1:c.5462-10C>A
NM_001407632.1:c.5462-10C>A
NM_001407633.1:c.5462-10C>A
NM_001407634.1:c.5462-10C>A
NM_001407635.1:c.5462-10C>A
NM_001407636.1:c.5462-10C>A
NM_001407637.1:c.5462-10C>A
NM_001407638.1:c.5462-10C>A
NM_001407639.1:c.5462-10C>A
NM_001407640.1:c.5462-10C>A
NM_001407641.1:c.5462-10C>A
NM_001407642.1:c.5462-10C>A
NM_001407644.1:c.5459-10C>A
NM_001407645.1:c.5459-10C>A
NM_001407646.1:c.5456-10C>A
NM_001407647.1:c.5453-10C>A
NM_001407648.1:c.5411-10C>A
NM_001407649.1:c.5408-10C>A
NM_001407652.1:c.5390-10C>A
NM_001407653.1:c.5390-10C>A
NM_001407654.1:c.5390-10C>A
NM_001407655.1:c.5390-10C>A
NM_001407656.1:c.5387-10C>A
NM_001407657.1:c.5387-10C>A
NM_001407658.1:c.5387-10C>A
NM_001407659.1:c.5384-10C>A
NM_001407660.1:c.5384-10C>A
NM_001407661.1:c.5384-10C>A
NM_001407662.1:c.5384-10C>A
NM_001407663.1:c.5384-10C>A
NM_001407664.1:c.5345-10C>A
NM_001407665.1:c.5345-10C>A
NM_001407666.1:c.5345-10C>A
NM_001407667.1:c.5345-10C>A
NM_001407668.1:c.5345-10C>A
NM_001407669.1:c.5345-10C>A
NM_001407670.1:c.5342-10C>A
NM_001407671.1:c.5342-10C>A
NM_001407672.1:c.5342-10C>A
NM_001407673.1:c.5342-10C>A
NM_001407674.1:c.5342-10C>A
NM_001407675.1:c.5342-10C>A
NM_001407676.1:c.5342-10C>A
NM_001407677.1:c.5342-10C>A
NM_001407678.1:c.5342-10C>A
NM_001407679.1:c.5342-10C>A
NM_001407680.1:c.5342-10C>A
NM_001407681.1:c.5339-10C>A
NM_001407682.1:c.5339-10C>A
NM_001407683.1:c.5339-10C>A
NM_001407684.1:c.5339-10C>A
NM_001407685.1:c.5339-10C>A
NM_001407686.1:c.5339-10C>A
NM_001407687.1:c.5339-10C>A
NM_001407688.1:c.5339-10C>A
NM_001407689.1:c.5339-10C>A
NM_001407690.1:c.5336-10C>A
NM_001407691.1:c.5336-10C>A
NM_001407692.1:c.5327-10C>A
NM_001407694.1:c.5327-10C>A
NM_001407695.1:c.5327-10C>A
NM_001407696.1:c.5327-10C>A
NM_001407697.1:c.5327-10C>A
NM_001407698.1:c.5327-10C>A
NM_001407724.1:c.5327-10C>A
NM_001407725.1:c.5327-10C>A
NM_001407726.1:c.5327-10C>A
NM_001407727.1:c.5327-10C>A
NM_001407728.1:c.5327-10C>A
NM_001407729.1:c.5327-10C>A
NM_001407730.1:c.5327-10C>A
NM_001407731.1:c.5327-10C>A
NM_001407732.1:c.5324-10C>A
NM_001407733.1:c.5324-10C>A
NM_001407734.1:c.5324-10C>A
NM_001407735.1:c.5324-10C>A
NM_001407736.1:c.5324-10C>A
NM_001407737.1:c.5324-10C>A
NM_001407738.1:c.5324-10C>A
NM_001407739.1:c.5324-10C>A
NM_001407740.1:c.5324-10C>A
NM_001407741.1:c.5324-10C>A
NM_001407742.1:c.5324-10C>A
NM_001407743.1:c.5324-10C>A
NM_001407744.1:c.5324-10C>A
NM_001407745.1:c.5324-10C>A
NM_001407746.1:c.5324-10C>A
NM_001407747.1:c.5324-10C>A
NM_001407748.1:c.5324-10C>A
NM_001407749.1:c.5324-10C>A
NM_001407750.1:c.5324-10C>A
NM_001407751.1:c.5324-10C>A
NM_001407752.1:c.5324-10C>A
NM_001407838.1:c.5321-10C>A
NM_001407839.1:c.5321-10C>A
NM_001407841.1:c.5321-10C>A
NM_001407842.1:c.5321-10C>A
NM_001407843.1:c.5321-10C>A
NM_001407844.1:c.5321-10C>A
NM_001407845.1:c.5321-10C>A
NM_001407846.1:c.5321-10C>A
NM_001407847.1:c.5321-10C>A
NM_001407848.1:c.5321-10C>A
NM_001407849.1:c.5321-10C>A
NM_001407850.1:c.5321-10C>A
NM_001407851.1:c.5321-10C>A
NM_001407852.1:c.5321-10C>A
NM_001407853.1:c.5321-10C>A
NM_001407854.1:c.5394-10C>A
NM_001407858.1:c.5391-10C>A
NM_001407859.1:c.5391-10C>A
NM_001407860.1:c.5391-10C>A
NM_001407861.1:c.5388-10C>A
NM_001407862.1:c.5267-10C>A
NM_001407863.1:c.5264-10C>A
NM_001407874.1:c.5261-10C>A
NM_001407875.1:c.5261-10C>A
NM_001407879.1:c.5258-10C>A
NM_001407881.1:c.5258-10C>A
NM_001407882.1:c.5258-10C>A
NM_001407884.1:c.5258-10C>A
NM_001407885.1:c.5258-10C>A
NM_001407886.1:c.5258-10C>A
NM_001407887.1:c.5258-10C>A
NM_001407889.1:c.5258-10C>A
NM_001407894.1:c.5255-10C>A
NM_001407895.1:c.5255-10C>A
NM_001407896.1:c.5255-10C>A
NM_001407897.1:c.5255-10C>A
NM_001407898.1:c.5255-10C>A
NM_001407899.1:c.5255-10C>A
NM_001407900.1:c.5255-10C>A
NM_001407902.1:c.5255-10C>A
NM_001407904.1:c.5255-10C>A
NM_001407906.1:c.5255-10C>A
NM_001407907.1:c.5255-10C>A
NM_001407908.1:c.5255-10C>A
NM_001407909.1:c.5255-10C>A
NM_001407910.1:c.5255-10C>A
NM_001407915.1:c.5252-10C>A
NM_001407916.1:c.5252-10C>A
NM_001407917.1:c.5252-10C>A
NM_001407918.1:c.5252-10C>A
NM_001407919.1:c.5216-10C>A
NM_001407920.1:c.5204-10C>A
NM_001407921.1:c.5204-10C>A
NM_001407922.1:c.5204-10C>A
NM_001407923.1:c.5204-10C>A
NM_001407924.1:c.5204-10C>A
NM_001407925.1:c.5204-10C>A
NM_001407926.1:c.5204-10C>A
NM_001407927.1:c.5201-10C>A
NM_001407928.1:c.5201-10C>A
NM_001407929.1:c.5201-10C>A
NM_001407930.1:c.5201-10C>A
NM_001407931.1:c.5201-10C>A
NM_001407932.1:c.5201-10C>A
NM_001407933.1:c.5201-10C>A
NM_001407934.1:c.5198-10C>A
NM_001407935.1:c.5198-10C>A
NM_001407936.1:c.5198-10C>A
NM_001407937.1:c.5271-10C>A
NM_001407938.1:c.5271-10C>A
NM_001407939.1:c.5268-10C>A
NM_001407940.1:c.5268-10C>A
NM_001407941.1:c.5265-10C>A
NM_001407942.1:c.5253-10C>A
NM_001407943.1:c.5250-10C>A
NM_001407944.1:c.5250-10C>A
NM_001407945.1:c.5250-10C>A
NM_001407946.1:c.5135-10C>A
NM_001407947.1:c.5135-10C>A
NM_001407948.1:c.5135-10C>A
NM_001407949.1:c.5135-10C>A
NM_001407950.1:c.5132-10C>A
NM_001407951.1:c.5132-10C>A
NM_001407952.1:c.5132-10C>A
NM_001407953.1:c.5132-10C>A
NM_001407954.1:c.5132-10C>A
NM_001407955.1:c.5132-10C>A
NM_001407956.1:c.5129-10C>A
NM_001407957.1:c.5129-10C>A
NM_001407958.1:c.5129-10C>A
NM_001407959.1:c.5087-10C>A
NM_001407960.1:c.5084-10C>A
NM_001407962.1:c.5084-10C>A
NM_001407963.1:c.5081-10C>A
NM_001407964.1:c.5006-10C>A
NM_001407965.1:c.4961-10C>A
NM_001407966.1:c.4580-10C>A
NM_001407967.1:c.4577-10C>A
NM_001407968.1:c.2864-10C>A
NM_001407969.1:c.2861-10C>A
NM_001407970.1:c.2225-10C>A
NM_001407971.1:c.2225-10C>A
NM_001407972.1:c.2222-10C>A
NM_001407973.1:c.2159-10C>A
NM_001407974.1:c.2159-10C>A
NM_001407975.1:c.2159-10C>A
NM_001407976.1:c.2159-10C>A
NM_001407977.1:c.2159-10C>A
NM_001407978.1:c.2159-10C>A
NM_001407979.1:c.2156-10C>A
NM_001407980.1:c.2156-10C>A
NM_001407981.1:c.2156-10C>A
NM_001407982.1:c.2156-10C>A
NM_001407983.1:c.2156-10C>A
NM_001407984.1:c.2156-10C>A
NM_001407985.1:c.2156-10C>A
NM_001407986.1:c.2156-10C>A
NM_001407990.1:c.2156-10C>A
NM_001407991.1:c.2156-10C>A
NM_001407992.1:c.2156-10C>A
NM_001407993.1:c.2156-10C>A
NM_001408392.1:c.2153-10C>A
NM_001408396.1:c.2153-10C>A
NM_001408397.1:c.2153-10C>A
NM_001408398.1:c.2153-10C>A
NM_001408399.1:c.2153-10C>A
NM_001408400.1:c.2153-10C>A
NM_001408401.1:c.2153-10C>A
NM_001408402.1:c.2153-10C>A
NM_001408403.1:c.2153-10C>A
NM_001408404.1:c.2153-10C>A
NM_001408406.1:c.2150-10C>A
NM_001408407.1:c.2150-10C>A
NM_001408408.1:c.2150-10C>A
NM_001408409.1:c.2147-10C>A
NM_001408410.1:c.2084-10C>A
NM_001408411.1:c.2081-10C>A
NM_001408412.1:c.2078-10C>A
NM_001408413.1:c.2078-10C>A
NM_001408414.1:c.2078-10C>A
NM_001408415.1:c.2078-10C>A
NM_001408416.1:c.2078-10C>A
NM_001408418.1:c.2042-10C>A
NM_001408419.1:c.2042-10C>A
NM_001408420.1:c.2042-10C>A
NM_001408421.1:c.2039-10C>A
NM_001408422.1:c.2039-10C>A
NM_001408423.1:c.2039-10C>A
NM_001408424.1:c.2039-10C>A
NM_001408425.1:c.2036-10C>A
NM_001408426.1:c.2036-10C>A
NM_001408427.1:c.2036-10C>A
NM_001408428.1:c.2036-10C>A
NM_001408429.1:c.2036-10C>A
NM_001408430.1:c.2036-10C>A
NM_001408431.1:c.2036-10C>A
NM_001408432.1:c.2033-10C>A
NM_001408433.1:c.2033-10C>A
NM_001408434.1:c.2033-10C>A
NM_001408435.1:c.2033-10C>A
NM_001408436.1:c.2033-10C>A
NM_001408437.1:c.2033-10C>A
NM_001408438.1:c.2033-10C>A
NM_001408439.1:c.2033-10C>A
NM_001408440.1:c.2033-10C>A
NM_001408441.1:c.2033-10C>A
NM_001408442.1:c.2033-10C>A
NM_001408443.1:c.2033-10C>A
NM_001408444.1:c.2033-10C>A
NM_001408445.1:c.2030-10C>A
NM_001408446.1:c.2030-10C>A
NM_001408447.1:c.2030-10C>A
NM_001408448.1:c.2030-10C>A
NM_001408450.1:c.2030-10C>A
NM_001408451.1:c.2024-10C>A
NM_001408452.1:c.2018-10C>A
NM_001408453.1:c.2018-10C>A
NM_001408454.1:c.2018-10C>A
NM_001408455.1:c.2018-10C>A
NM_001408456.1:c.2018-10C>A
NM_001408457.1:c.2018-10C>A
NM_001408458.1:c.2015-10C>A
NM_001408459.1:c.2015-10C>A
NM_001408460.1:c.2015-10C>A
NM_001408461.1:c.2015-10C>A
NM_001408462.1:c.2015-10C>A
NM_001408463.1:c.2015-10C>A
NM_001408464.1:c.2015-10C>A
NM_001408465.1:c.2015-10C>A
NM_001408466.1:c.2015-10C>A
NM_001408467.1:c.2015-10C>A
NM_001408468.1:c.2012-10C>A
NM_001408469.1:c.2012-10C>A
NM_001408470.1:c.2012-10C>A
NM_001408472.1:c.2082-10C>A
NM_001408473.1:c.2079-10C>A
NM_001408474.1:c.1958-10C>A
NM_001408475.1:c.1955-10C>A
NM_001408476.1:c.1955-10C>A
NM_001408478.1:c.1949-10C>A
NM_001408479.1:c.1949-10C>A
NM_001408480.1:c.1949-10C>A
NM_001408481.1:c.1946-10C>A
NM_001408482.1:c.1946-10C>A
NM_001408483.1:c.1946-10C>A
NM_001408484.1:c.1946-10C>A
NM_001408485.1:c.1946-10C>A
NM_001408489.1:c.1946-10C>A
NM_001408490.1:c.1946-10C>A
NM_001408491.1:c.1946-10C>A
NM_001408492.1:c.1943-10C>A
NM_001408493.1:c.1943-10C>A
NM_001408494.1:c.1919-10C>A
NM_001408495.1:c.1913-10C>A
NM_001408496.1:c.1895-10C>A
NM_001408497.1:c.1895-10C>A
NM_001408498.1:c.1895-10C>A
NM_001408499.1:c.1895-10C>A
NM_001408500.1:c.1895-10C>A
NM_001408501.1:c.1895-10C>A
NM_001408502.1:c.1892-10C>A
NM_001408503.1:c.1892-10C>A
NM_001408504.1:c.1892-10C>A
NM_001408505.1:c.1889-10C>A
NM_001408506.1:c.1832-10C>A
NM_001408507.1:c.1829-10C>A
NM_001408508.1:c.1820-10C>A
NM_001408509.1:c.1817-10C>A
NM_001408510.1:c.1778-10C>A
NM_001408511.1:c.1775-10C>A
NM_001408512.1:c.1655-10C>A
NM_001408513.1:c.1628-10C>A
NM_001408514.1:c.1232-10C>A
NM_007294.4:c.5468-10C>AMANE SELECT
NM_007297.4:c.5327-10C>A
NM_007298.4:c.2156-10C>A
NM_007299.4:c.2082-10C>A
NM_007300.3:c.5531-10C>A
NM_007300.4:c.5531-10C>A
LRG_292t1:c.5468-10C>A
LRG_292:g.172172C>A
NC_000017.10:g.41197829G>T
NM_007294.2:c.5468-10C>A
NM_007294.3:c.5468-10C>A
NM_007294.4:c.5468-10C>A
NM_007299.3:c.2082-10C>A
U14680.1:n.5587-10C>A

Links:

Breast Cancer Information Core (BIC) (BRCA1): 5587-10&base_change=C to A; dbSNP: rs8176316

NCBI 1000 Genomes Browser:

rs8176316

Molecular consequence:

NM_001407571.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.5534-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.5534-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.5531-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.5531-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.5531-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.5528-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.5528-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.5465-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.5462-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.5459-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.5459-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.5456-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.5453-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.5411-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.5408-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.5390-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.5390-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.5390-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.5390-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.5387-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.5387-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.5387-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.5384-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.5384-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.5384-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.5384-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.5384-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.5345-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.5345-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.5345-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.5345-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.5345-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.5345-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.5342-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.5339-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.5336-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.5336-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.5324-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.5321-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.5394-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.5391-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.5391-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.5391-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.5388-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.5267-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.5264-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.5261-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.5261-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.5258-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.5258-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.5258-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.5258-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.5258-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.5258-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.5258-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.5258-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.5255-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.5252-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.5252-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.5252-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.5252-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.5216-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.5204-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.5204-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.5204-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.5204-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.5204-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.5204-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.5204-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.5201-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.5201-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.5201-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.5201-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.5201-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.5201-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.5201-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.5198-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.5198-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.5198-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.5271-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.5271-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.5268-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.5268-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.5265-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.5253-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.5250-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.5250-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.5250-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.5135-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.5135-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.5135-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.5135-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.5132-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.5132-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.5132-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.5132-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.5132-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.5132-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.5129-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.5129-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.5129-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.5087-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.5084-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.5084-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.5081-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.5006-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.4961-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.4580-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.4577-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.2864-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.2861-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.2225-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.2225-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.2222-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.2159-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.2159-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.2159-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.2159-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.2159-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.2159-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.2153-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.2150-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.2150-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.2150-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.2147-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.2084-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.2081-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.2078-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.2078-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.2078-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.2078-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.2078-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.2042-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.2042-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.2042-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.2039-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.2039-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.2039-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.2039-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.2036-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.2036-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.2036-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.2036-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.2036-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.2036-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.2036-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.2033-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.2030-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.2030-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.2030-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.2030-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.2030-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.2024-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.2018-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.2018-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.2018-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.2018-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.2018-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.2018-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.2015-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.2012-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.2012-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.2012-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.2082-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.2079-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.1958-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.1955-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.1955-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.1949-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.1949-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.1949-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.1946-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.1946-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.1946-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.1946-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.1946-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.1946-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.1946-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.1946-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.1943-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.1943-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.1919-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.1913-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.1895-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.1895-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.1895-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.1895-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.1895-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.1895-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.1892-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.1892-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.1892-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.1889-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.1832-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.1829-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.1820-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.1817-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.1778-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.1775-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.1655-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.1628-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.1232-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.5468-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.5327-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.2156-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.2082-10C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.5531-10C>A - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145527	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000153994	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Benign (Jan 2, 2014)	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 18694767, 18645608 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000189894	Pathway Genomics	no assertion criteria provided	Likely benign (Jul 24, 2014)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 24729269, 18694767, 18645608, 16267036, 22505045
SCV000244520	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Benign (Jan 12, 2015)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000267721	Michigan Medical Genetics Laboratories, University of Michigan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 21, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001237527	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004016772	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004243909	BRCAlab, Lund University	no assertion criteria provided	Benign (Mar 2, 2020)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	8	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation
	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
African American	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Native American, African American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Near Eastern Mid East	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.

Biunno I, Aceto G, Awadelkarim KD, Morgano A, Elhaj A, Eltayeb EA, Abuidris DO, Elwali NE, Spinelli C, De Blasio P, Rovida E, Mariani-Costantini R.

Fam Cancer. 2014 Sep;13(3):437-44. doi: 10.1007/s10689-014-9717-4.

PubMed [citation]

PMID:: 24729269

Molecular and in silico analysis of BRCA1 and BRCA2 variants.

Tommasi S, Pilato B, Pinto R, Monaco A, Bruno M, Campana M, Digennaro M, Schittulli F, Lacalamita R, Paradiso A.

Mutat Res. 2008 Sep 26;644(1-2):64-70. doi: 10.1016/j.mrfmmm.2008.07.005. Epub 2008 Jul 18.

PubMed [citation]

PMID:: 18694767

See all PubMed Citations (7)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145527.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	not provided	1	not provided	not provided	clinical testing	not provided
4	African American	4	not provided	not provided	clinical testing	not provided
5	Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
6	Native American, African American	1	not provided	not provided	clinical testing	not provided
7	Near Eastern Mid East	1	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	yes	not provided	not provided	not provided		6	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000153994.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	literature only	PubMed (2)

#	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

From Pathway Genomics, SCV000189894.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244520.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01626 (African), derived from 1000 genomes (2012-04-30).

#	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 Michigan Medical Genetics Laboratories, University of Michigan, SCV000267721.1

#	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	germline	yes	not provided	Blood	not provided		not provided	not provided	not provided	not provided

From Brotman Baty Institute, University of Washington, SCV001237527.1

#	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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016772.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From BRCAlab, Lund University, SCV004243909.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 15, 2024

Relating variation to medicine