NM_007294.4(BRCA1):c.547+1G>T AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jan 10, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000496454.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.547+1G>T]

NM_007294.4(BRCA1):c.547+1G>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.547+1G>T

Other names:

IVS8+1G>T

HGVS:

NC_000017.11:g.43099774C>A
NG_005905.2:g.118210G>T
NM_001407571.1:c.334+1G>T
NM_001407581.1:c.547+1G>T
NM_001407582.1:c.547+1G>T
NM_001407583.1:c.547+1G>T
NM_001407585.1:c.547+1G>T
NM_001407587.1:c.544+1G>T
NM_001407590.1:c.544+1G>T
NM_001407591.1:c.544+1G>T
NM_001407593.1:c.547+1G>T
NM_001407594.1:c.547+1G>T
NM_001407596.1:c.547+1G>T
NM_001407597.1:c.547+1G>T
NM_001407598.1:c.547+1G>T
NM_001407602.1:c.547+1G>T
NM_001407603.1:c.547+1G>T
NM_001407605.1:c.547+1G>T
NM_001407610.1:c.544+1G>T
NM_001407611.1:c.544+1G>T
NM_001407612.1:c.544+1G>T
NM_001407613.1:c.544+1G>T
NM_001407614.1:c.544+1G>T
NM_001407615.1:c.544+1G>T
NM_001407616.1:c.547+1G>T
NM_001407617.1:c.547+1G>T
NM_001407618.1:c.547+1G>T
NM_001407619.1:c.547+1G>T
NM_001407620.1:c.547+1G>T
NM_001407621.1:c.547+1G>T
NM_001407622.1:c.547+1G>T
NM_001407623.1:c.547+1G>T
NM_001407624.1:c.547+1G>T
NM_001407625.1:c.547+1G>T
NM_001407626.1:c.547+1G>T
NM_001407627.1:c.544+1G>T
NM_001407628.1:c.544+1G>T
NM_001407629.1:c.544+1G>T
NM_001407630.1:c.544+1G>T
NM_001407631.1:c.544+1G>T
NM_001407632.1:c.544+1G>T
NM_001407633.1:c.544+1G>T
NM_001407634.1:c.544+1G>T
NM_001407635.1:c.544+1G>T
NM_001407636.1:c.544+1G>T
NM_001407637.1:c.544+1G>T
NM_001407638.1:c.544+1G>T
NM_001407639.1:c.547+1G>T
NM_001407640.1:c.547+1G>T
NM_001407641.1:c.547+1G>T
NM_001407642.1:c.547+1G>T
NM_001407644.1:c.544+1G>T
NM_001407645.1:c.544+1G>T
NM_001407646.1:c.538+1G>T
NM_001407647.1:c.538+1G>T
NM_001407648.1:c.547+1G>T
NM_001407649.1:c.544+1G>T
NM_001407652.1:c.547+1G>T
NM_001407653.1:c.469+1G>T
NM_001407654.1:c.469+1G>T
NM_001407655.1:c.469+1G>T
NM_001407656.1:c.469+1G>T
NM_001407657.1:c.469+1G>T
NM_001407658.1:c.469+1G>T
NM_001407659.1:c.466+1G>T
NM_001407660.1:c.466+1G>T
NM_001407661.1:c.466+1G>T
NM_001407662.1:c.466+1G>T
NM_001407663.1:c.469+1G>T
NM_001407664.1:c.547+1G>T
NM_001407665.1:c.547+1G>T
NM_001407666.1:c.547+1G>T
NM_001407667.1:c.547+1G>T
NM_001407668.1:c.547+1G>T
NM_001407669.1:c.547+1G>T
NM_001407670.1:c.544+1G>T
NM_001407671.1:c.544+1G>T
NM_001407672.1:c.544+1G>T
NM_001407673.1:c.544+1G>T
NM_001407674.1:c.547+1G>T
NM_001407675.1:c.547+1G>T
NM_001407676.1:c.547+1G>T
NM_001407677.1:c.547+1G>T
NM_001407678.1:c.547+1G>T
NM_001407679.1:c.547+1G>T
NM_001407680.1:c.547+1G>T
NM_001407681.1:c.547+1G>T
NM_001407682.1:c.547+1G>T
NM_001407683.1:c.547+1G>T
NM_001407684.1:c.547+1G>T
NM_001407685.1:c.544+1G>T
NM_001407686.1:c.544+1G>T
NM_001407687.1:c.544+1G>T
NM_001407688.1:c.544+1G>T
NM_001407689.1:c.544+1G>T
NM_001407690.1:c.544+1G>T
NM_001407691.1:c.544+1G>T
NM_001407692.1:c.406+1G>T
NM_001407694.1:c.406+1G>T
NM_001407695.1:c.406+1G>T
NM_001407696.1:c.406+1G>T
NM_001407697.1:c.406+1G>T
NM_001407698.1:c.406+1G>T
NM_001407724.1:c.406+1G>T
NM_001407725.1:c.406+1G>T
NM_001407726.1:c.406+1G>T
NM_001407727.1:c.406+1G>T
NM_001407728.1:c.406+1G>T
NM_001407729.1:c.406+1G>T
NM_001407730.1:c.406+1G>T
NM_001407731.1:c.406+1G>T
NM_001407732.1:c.406+1G>T
NM_001407733.1:c.406+1G>T
NM_001407734.1:c.406+1G>T
NM_001407735.1:c.406+1G>T
NM_001407736.1:c.406+1G>T
NM_001407737.1:c.406+1G>T
NM_001407738.1:c.406+1G>T
NM_001407739.1:c.406+1G>T
NM_001407740.1:c.403+1G>T
NM_001407741.1:c.403+1G>T
NM_001407742.1:c.403+1G>T
NM_001407743.1:c.403+1G>T
NM_001407744.1:c.403+1G>T
NM_001407745.1:c.403+1G>T
NM_001407746.1:c.403+1G>T
NM_001407747.1:c.403+1G>T
NM_001407748.1:c.403+1G>T
NM_001407749.1:c.403+1G>T
NM_001407750.1:c.406+1G>T
NM_001407751.1:c.406+1G>T
NM_001407752.1:c.406+1G>T
NM_001407838.1:c.403+1G>T
NM_001407839.1:c.403+1G>T
NM_001407841.1:c.403+1G>T
NM_001407842.1:c.403+1G>T
NM_001407843.1:c.403+1G>T
NM_001407844.1:c.403+1G>T
NM_001407845.1:c.403+1G>T
NM_001407846.1:c.403+1G>T
NM_001407847.1:c.403+1G>T
NM_001407848.1:c.403+1G>T
NM_001407849.1:c.403+1G>T
NM_001407850.1:c.406+1G>T
NM_001407851.1:c.406+1G>T
NM_001407852.1:c.406+1G>T
NM_001407853.1:c.334+1G>T
NM_001407854.1:c.547+1G>T
NM_001407858.1:c.547+1G>T
NM_001407859.1:c.547+1G>T
NM_001407860.1:c.544+1G>T
NM_001407861.1:c.544+1G>T
NM_001407862.1:c.469+1G>T
NM_001407863.1:c.547+1G>T
NM_001407874.1:c.466+1G>T
NM_001407875.1:c.466+1G>T
NM_001407879.1:c.337+1G>T
NM_001407881.1:c.337+1G>T
NM_001407882.1:c.337+1G>T
NM_001407884.1:c.337+1G>T
NM_001407885.1:c.337+1G>T
NM_001407886.1:c.337+1G>T
NM_001407887.1:c.337+1G>T
NM_001407889.1:c.337+1G>T
NM_001407894.1:c.334+1G>T
NM_001407895.1:c.334+1G>T
NM_001407896.1:c.334+1G>T
NM_001407897.1:c.334+1G>T
NM_001407898.1:c.334+1G>T
NM_001407899.1:c.334+1G>T
NM_001407900.1:c.337+1G>T
NM_001407902.1:c.337+1G>T
NM_001407904.1:c.337+1G>T
NM_001407906.1:c.337+1G>T
NM_001407907.1:c.337+1G>T
NM_001407908.1:c.337+1G>T
NM_001407909.1:c.337+1G>T
NM_001407910.1:c.337+1G>T
NM_001407915.1:c.334+1G>T
NM_001407916.1:c.334+1G>T
NM_001407917.1:c.334+1G>T
NM_001407918.1:c.334+1G>T
NM_001407919.1:c.547+1G>T
NM_001407920.1:c.406+1G>T
NM_001407921.1:c.406+1G>T
NM_001407922.1:c.406+1G>T
NM_001407923.1:c.406+1G>T
NM_001407924.1:c.406+1G>T
NM_001407925.1:c.406+1G>T
NM_001407926.1:c.406+1G>T
NM_001407927.1:c.406+1G>T
NM_001407928.1:c.406+1G>T
NM_001407929.1:c.406+1G>T
NM_001407930.1:c.403+1G>T
NM_001407931.1:c.403+1G>T
NM_001407932.1:c.403+1G>T
NM_001407933.1:c.406+1G>T
NM_001407934.1:c.403+1G>T
NM_001407935.1:c.406+1G>T
NM_001407936.1:c.403+1G>T
NM_001407937.1:c.547+1G>T
NM_001407938.1:c.547+1G>T
NM_001407939.1:c.547+1G>T
NM_001407940.1:c.544+1G>T
NM_001407941.1:c.544+1G>T
NM_001407942.1:c.406+1G>T
NM_001407943.1:c.403+1G>T
NM_001407944.1:c.406+1G>T
NM_001407945.1:c.406+1G>T
NM_001407946.1:c.337+1G>T
NM_001407947.1:c.337+1G>T
NM_001407948.1:c.337+1G>T
NM_001407949.1:c.337+1G>T
NM_001407950.1:c.337+1G>T
NM_001407951.1:c.337+1G>T
NM_001407952.1:c.337+1G>T
NM_001407953.1:c.337+1G>T
NM_001407954.1:c.334+1G>T
NM_001407955.1:c.334+1G>T
NM_001407956.1:c.334+1G>T
NM_001407957.1:c.337+1G>T
NM_001407958.1:c.334+1G>T
NM_001407959.1:c.166+1G>T
NM_001407960.1:c.166+1G>T
NM_001407962.1:c.163+1G>T
NM_001407963.1:c.166+1G>T
NM_001407964.1:c.403+1G>T
NM_001407965.1:c.166+1G>T
NM_001407966.1:c.-218-4914G>T
NM_001407967.1:c.-218-4914G>T
NM_001407968.1:c.547+1G>T
NM_001407969.1:c.547+1G>T
NM_001407970.1:c.547+1G>T
NM_001407971.1:c.547+1G>T
NM_001407972.1:c.544+1G>T
NM_001407973.1:c.547+1G>T
NM_001407974.1:c.547+1G>T
NM_001407975.1:c.547+1G>T
NM_001407976.1:c.547+1G>T
NM_001407977.1:c.547+1G>T
NM_001407978.1:c.547+1G>T
NM_001407979.1:c.547+1G>T
NM_001407980.1:c.547+1G>T
NM_001407981.1:c.547+1G>T
NM_001407982.1:c.547+1G>T
NM_001407983.1:c.547+1G>T
NM_001407984.1:c.544+1G>T
NM_001407985.1:c.544+1G>T
NM_001407986.1:c.544+1G>T
NM_001407990.1:c.547+1G>T
NM_001407991.1:c.544+1G>T
NM_001407992.1:c.544+1G>T
NM_001407993.1:c.547+1G>T
NM_001408392.1:c.544+1G>T
NM_001408396.1:c.544+1G>T
NM_001408397.1:c.544+1G>T
NM_001408398.1:c.544+1G>T
NM_001408399.1:c.544+1G>T
NM_001408400.1:c.544+1G>T
NM_001408401.1:c.544+1G>T
NM_001408402.1:c.544+1G>T
NM_001408403.1:c.547+1G>T
NM_001408404.1:c.547+1G>T
NM_001408406.1:c.547+1G>T
NM_001408407.1:c.544+1G>T
NM_001408408.1:c.538+1G>T
NM_001408409.1:c.469+1G>T
NM_001408410.1:c.406+1G>T
NM_001408411.1:c.469+1G>T
NM_001408412.1:c.469+1G>T
NM_001408413.1:c.466+1G>T
NM_001408414.1:c.469+1G>T
NM_001408415.1:c.469+1G>T
NM_001408416.1:c.466+1G>T
NM_001408418.1:c.547+1G>T
NM_001408419.1:c.547+1G>T
NM_001408420.1:c.547+1G>T
NM_001408421.1:c.544+1G>T
NM_001408422.1:c.547+1G>T
NM_001408423.1:c.547+1G>T
NM_001408424.1:c.544+1G>T
NM_001408425.1:c.547+1G>T
NM_001408426.1:c.547+1G>T
NM_001408427.1:c.547+1G>T
NM_001408428.1:c.547+1G>T
NM_001408429.1:c.547+1G>T
NM_001408430.1:c.547+1G>T
NM_001408431.1:c.544+1G>T
NM_001408432.1:c.544+1G>T
NM_001408433.1:c.544+1G>T
NM_001408434.1:c.544+1G>T
NM_001408435.1:c.544+1G>T
NM_001408436.1:c.547+1G>T
NM_001408437.1:c.547+1G>T
NM_001408438.1:c.547+1G>T
NM_001408439.1:c.547+1G>T
NM_001408440.1:c.547+1G>T
NM_001408441.1:c.547+1G>T
NM_001408442.1:c.547+1G>T
NM_001408443.1:c.547+1G>T
NM_001408444.1:c.547+1G>T
NM_001408445.1:c.544+1G>T
NM_001408446.1:c.544+1G>T
NM_001408447.1:c.544+1G>T
NM_001408448.1:c.544+1G>T
NM_001408450.1:c.544+1G>T
NM_001408451.1:c.412+1G>T
NM_001408452.1:c.406+1G>T
NM_001408453.1:c.406+1G>T
NM_001408454.1:c.406+1G>T
NM_001408455.1:c.406+1G>T
NM_001408456.1:c.406+1G>T
NM_001408457.1:c.406+1G>T
NM_001408458.1:c.406+1G>T
NM_001408459.1:c.406+1G>T
NM_001408460.1:c.406+1G>T
NM_001408461.1:c.406+1G>T
NM_001408462.1:c.403+1G>T
NM_001408463.1:c.403+1G>T
NM_001408464.1:c.403+1G>T
NM_001408465.1:c.403+1G>T
NM_001408466.1:c.406+1G>T
NM_001408467.1:c.406+1G>T
NM_001408468.1:c.403+1G>T
NM_001408469.1:c.406+1G>T
NM_001408470.1:c.403+1G>T
NM_001408472.1:c.547+1G>T
NM_001408473.1:c.544+1G>T
NM_001408474.1:c.469+1G>T
NM_001408475.1:c.466+1G>T
NM_001408476.1:c.469+1G>T
NM_001408478.1:c.337+1G>T
NM_001408479.1:c.337+1G>T
NM_001408480.1:c.337+1G>T
NM_001408481.1:c.337+1G>T
NM_001408482.1:c.337+1G>T
NM_001408483.1:c.337+1G>T
NM_001408484.1:c.337+1G>T
NM_001408485.1:c.337+1G>T
NM_001408489.1:c.337+1G>T
NM_001408490.1:c.334+1G>T
NM_001408491.1:c.334+1G>T
NM_001408492.1:c.337+1G>T
NM_001408493.1:c.334+1G>T
NM_001408494.1:c.547+1G>T
NM_001408495.1:c.544+1G>T
NM_001408496.1:c.406+1G>T
NM_001408497.1:c.406+1G>T
NM_001408498.1:c.406+1G>T
NM_001408499.1:c.406+1G>T
NM_001408500.1:c.406+1G>T
NM_001408501.1:c.406+1G>T
NM_001408502.1:c.337+1G>T
NM_001408503.1:c.403+1G>T
NM_001408504.1:c.403+1G>T
NM_001408505.1:c.403+1G>T
NM_001408506.1:c.337+1G>T
NM_001408507.1:c.337+1G>T
NM_001408508.1:c.334+1G>T
NM_001408509.1:c.334+1G>T
NM_001408510.1:c.166+1G>T
NM_001408511.1:c.403+1G>T
NM_001408512.1:c.166+1G>T
NM_001408513.1:c.337+1G>T
NM_001408514.1:c.337+1G>T
NM_007294.4:c.547+1G>TMANE SELECT
NM_007297.4:c.406+1G>T
NM_007298.4:c.547+1G>T
NM_007299.4:c.547+1G>T
NM_007300.4:c.547+1G>T
LRG_292t1:c.547+1G>T
LRG_292:g.118210G>T
NC_000017.10:g.41251791C>A
NM_007294.3:c.547+1G>T
U14680.1:n.666+1G>T

Links:

Breast Cancer Information Core (BIC) (BRCA1): 666+1&base_change=G to T; dbSNP: rs80358030

NCBI 1000 Genomes Browser:

rs80358030

Molecular consequence:

NM_001407966.1:c.-218-4914G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-218-4914G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407581.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407582.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407583.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407585.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407587.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407590.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407591.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407593.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407594.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407596.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407597.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407598.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407602.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407603.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407605.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407610.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407611.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407612.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407613.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407614.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407615.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407616.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407617.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407618.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407619.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407620.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407621.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407622.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407623.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407624.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407625.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407626.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407627.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407628.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407629.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407630.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407631.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407632.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407633.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407634.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407635.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407636.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407637.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407638.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407639.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407640.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407641.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407642.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407644.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407645.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407646.1:c.538+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407647.1:c.538+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407648.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407649.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407652.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407653.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407654.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407655.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407656.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407657.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407658.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407659.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407660.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407661.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407662.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407663.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407664.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407665.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407666.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407667.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407668.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407669.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407670.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407671.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407672.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407673.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407674.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407675.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407676.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407677.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407678.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407679.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407680.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407681.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407682.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407683.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407684.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407685.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407686.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407687.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407688.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407689.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407690.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407691.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407692.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407694.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407695.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407696.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407697.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407698.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407724.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407725.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407726.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407727.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407728.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407729.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407730.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407731.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407732.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407733.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407734.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407735.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407736.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407737.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407738.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407739.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407740.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407741.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407742.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407743.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407744.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407745.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407746.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407747.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407748.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407749.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407750.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407751.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407752.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407838.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407839.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407841.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407842.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407843.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407844.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407845.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407846.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407847.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407848.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407849.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407850.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407851.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407852.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407853.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407854.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407858.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407859.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407860.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407861.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407862.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407863.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407874.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407875.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407879.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407881.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407882.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407884.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407885.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407886.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407887.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407889.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407894.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407895.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407896.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407897.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407898.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407899.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407900.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407902.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407904.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407906.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407907.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407908.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407909.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407910.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407915.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407916.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407917.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407918.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407919.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407920.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407921.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407922.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407923.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407924.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407925.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407926.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407927.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407928.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407929.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407930.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407931.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407932.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407933.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407934.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407935.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407936.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407937.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407938.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407939.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407940.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407941.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407942.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407943.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407944.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407945.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407946.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407947.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407948.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407949.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407950.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407951.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407952.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407953.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407954.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407955.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407956.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407957.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407958.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407959.1:c.166+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407960.1:c.166+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407962.1:c.163+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407963.1:c.166+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407964.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407965.1:c.166+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407968.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407970.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407971.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407972.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407973.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407974.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407975.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407976.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407977.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407978.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407979.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407980.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407981.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407982.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407983.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407984.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407985.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407986.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407990.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407991.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407992.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407993.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408392.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408396.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408397.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408398.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408399.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408400.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408401.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408402.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408403.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408404.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408406.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408407.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408408.1:c.538+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408409.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408410.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408411.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408412.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408413.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408414.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408415.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408416.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408418.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408419.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408420.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408421.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408422.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408423.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408424.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408425.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408426.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408427.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408428.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408429.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408430.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408431.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408432.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408433.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408434.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408435.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408436.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408437.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408438.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408439.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408440.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408441.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408442.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408443.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408444.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408445.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408446.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408447.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408448.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408450.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408451.1:c.412+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408452.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408453.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408454.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408455.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408456.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408457.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408458.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408459.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408460.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408461.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408462.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408463.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408464.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408465.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408466.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408467.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408468.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408469.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408470.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408472.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408473.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408474.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408475.1:c.466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408476.1:c.469+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408478.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408479.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408480.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408481.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408482.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408483.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408484.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408485.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408489.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408490.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408491.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408492.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408493.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408494.1:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408495.1:c.544+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408496.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408497.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408498.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408499.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408500.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408501.1:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408502.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408503.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408504.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408505.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408506.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408507.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408508.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408509.1:c.334+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408510.1:c.166+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408511.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408512.1:c.166+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408513.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408514.1:c.337+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007297.4:c.406+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.4:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.547+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

bl18b06.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
bl18b06.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone PBX0018B06 5', mRNA sequence
gi|7391308|gnl|dbEST|4070753|gb|AW6 .1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587063	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV001360560	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Apr 11, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12960223, 26534844, 29446198 Citation Link,
SCV001589393	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 10, 2024)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 16199547, 20104584, 12960223, 22333603, 26534844, 31131967, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587063

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Pathogenic
(Jan 31, 2014)

germline

research

SCV001360560

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Apr 11, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV001589393

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 10, 2024)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]

PMID:: 29446198
PMCID:: PMC5903938

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]

PMID:: 16199547
PMCID:: PMC1735933

See all PubMed Citations (8)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587063.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001360560.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Variant summary: BRCA1 c.547+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246214 control chromosomes (gnomAD). c.547+1G>T has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Rebbeck_2018, Li_2016, Evans_2003). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as pathogenic (2x) and twice as likely pathogenic. Based on the evidence outlined above, the variant was classified as 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001589393.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

This sequence change affects a donor splice site in intron 7 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with breast and/or ovarian cancer (PMID: 12960223, 22333603, 26534844). This variant is also known as c.666+1G>T. ClinVar contains an entry for this variant (Variation ID: 55590). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 31131967). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as 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

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine