NM_007294.4(BRCA1):c.4097-141A>C AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (3 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:: RCV000112254.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.4097-141A>C]

NM_007294.4(BRCA1):c.4097-141A>C

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4097-141A>C

Other names:

IVS12-141A>C; IVS 11-141A>C

HGVS:

NC_000017.11:g.43091173T>G
NG_005905.2:g.126811A>C
NG_087068.1:g.155T>G
NM_001407571.1:c.3884-141A>C
NM_001407581.1:c.4097-141A>C
NM_001407582.1:c.4097-141A>C
NM_001407583.1:c.4097-141A>C
NM_001407585.1:c.4097-141A>C
NM_001407587.1:c.4094-141A>C
NM_001407590.1:c.4094-141A>C
NM_001407591.1:c.4094-141A>C
NM_001407593.1:c.4097-141A>C
NM_001407594.1:c.4097-141A>C
NM_001407596.1:c.4097-141A>C
NM_001407597.1:c.4097-141A>C
NM_001407598.1:c.4097-141A>C
NM_001407602.1:c.4097-141A>C
NM_001407603.1:c.4097-141A>C
NM_001407605.1:c.4097-141A>C
NM_001407610.1:c.4094-141A>C
NM_001407611.1:c.4094-141A>C
NM_001407612.1:c.4094-141A>C
NM_001407613.1:c.4094-141A>C
NM_001407614.1:c.4094-141A>C
NM_001407615.1:c.4094-141A>C
NM_001407616.1:c.4097-141A>C
NM_001407617.1:c.4097-141A>C
NM_001407618.1:c.4097-141A>C
NM_001407619.1:c.4097-141A>C
NM_001407620.1:c.4097-141A>C
NM_001407621.1:c.4097-141A>C
NM_001407622.1:c.4097-141A>C
NM_001407623.1:c.4097-141A>C
NM_001407624.1:c.4097-141A>C
NM_001407625.1:c.4097-141A>C
NM_001407626.1:c.4097-141A>C
NM_001407627.1:c.4094-141A>C
NM_001407628.1:c.4094-141A>C
NM_001407629.1:c.4094-141A>C
NM_001407630.1:c.4094-141A>C
NM_001407631.1:c.4094-141A>C
NM_001407632.1:c.4094-141A>C
NM_001407633.1:c.4094-141A>C
NM_001407634.1:c.4094-141A>C
NM_001407635.1:c.4094-141A>C
NM_001407636.1:c.4094-141A>C
NM_001407637.1:c.4094-141A>C
NM_001407638.1:c.4094-141A>C
NM_001407639.1:c.4097-141A>C
NM_001407640.1:c.4097-141A>C
NM_001407641.1:c.4097-141A>C
NM_001407642.1:c.4097-141A>C
NM_001407644.1:c.4094-141A>C
NM_001407645.1:c.4094-141A>C
NM_001407646.1:c.4088-141A>C
NM_001407647.1:c.4088-141A>C
NM_001407648.1:c.3974-141A>C
NM_001407649.1:c.3971-141A>C
NM_001407652.1:c.4097-141A>C
NM_001407653.1:c.4019-141A>C
NM_001407654.1:c.4019-141A>C
NM_001407655.1:c.4019-141A>C
NM_001407656.1:c.4019-141A>C
NM_001407657.1:c.4019-141A>C
NM_001407658.1:c.4019-141A>C
NM_001407659.1:c.4016-141A>C
NM_001407660.1:c.4016-141A>C
NM_001407661.1:c.4016-141A>C
NM_001407662.1:c.4016-141A>C
NM_001407663.1:c.4019-141A>C
NM_001407664.1:c.3974-141A>C
NM_001407665.1:c.3974-141A>C
NM_001407666.1:c.3974-141A>C
NM_001407667.1:c.3974-141A>C
NM_001407668.1:c.3974-141A>C
NM_001407669.1:c.3974-141A>C
NM_001407670.1:c.3971-141A>C
NM_001407671.1:c.3971-141A>C
NM_001407672.1:c.3971-141A>C
NM_001407673.1:c.3971-141A>C
NM_001407674.1:c.3974-141A>C
NM_001407675.1:c.3974-141A>C
NM_001407676.1:c.3974-141A>C
NM_001407677.1:c.3974-141A>C
NM_001407678.1:c.3974-141A>C
NM_001407679.1:c.3974-141A>C
NM_001407680.1:c.3974-141A>C
NM_001407681.1:c.3974-141A>C
NM_001407682.1:c.3974-141A>C
NM_001407683.1:c.3974-141A>C
NM_001407684.1:c.4097-141A>C
NM_001407685.1:c.3971-141A>C
NM_001407686.1:c.3971-141A>C
NM_001407687.1:c.3971-141A>C
NM_001407688.1:c.3971-141A>C
NM_001407689.1:c.3971-141A>C
NM_001407690.1:c.3971-141A>C
NM_001407691.1:c.3971-141A>C
NM_001407692.1:c.3956-141A>C
NM_001407694.1:c.3956-141A>C
NM_001407695.1:c.3956-141A>C
NM_001407696.1:c.3956-141A>C
NM_001407697.1:c.3956-141A>C
NM_001407698.1:c.3956-141A>C
NM_001407724.1:c.3956-141A>C
NM_001407725.1:c.3956-141A>C
NM_001407726.1:c.3956-141A>C
NM_001407727.1:c.3956-141A>C
NM_001407728.1:c.3956-141A>C
NM_001407729.1:c.3956-141A>C
NM_001407730.1:c.3956-141A>C
NM_001407731.1:c.3956-141A>C
NM_001407732.1:c.3956-141A>C
NM_001407733.1:c.3956-141A>C
NM_001407734.1:c.3956-141A>C
NM_001407735.1:c.3956-141A>C
NM_001407736.1:c.3956-141A>C
NM_001407737.1:c.3956-141A>C
NM_001407738.1:c.3956-141A>C
NM_001407739.1:c.3956-141A>C
NM_001407740.1:c.3953-141A>C
NM_001407741.1:c.3953-141A>C
NM_001407742.1:c.3953-141A>C
NM_001407743.1:c.3953-141A>C
NM_001407744.1:c.3953-141A>C
NM_001407745.1:c.3953-141A>C
NM_001407746.1:c.3953-141A>C
NM_001407747.1:c.3953-141A>C
NM_001407748.1:c.3953-141A>C
NM_001407749.1:c.3953-141A>C
NM_001407750.1:c.3956-141A>C
NM_001407751.1:c.3956-141A>C
NM_001407752.1:c.3956-141A>C
NM_001407838.1:c.3953-141A>C
NM_001407839.1:c.3953-141A>C
NM_001407841.1:c.3953-141A>C
NM_001407842.1:c.3953-141A>C
NM_001407843.1:c.3953-141A>C
NM_001407844.1:c.3953-141A>C
NM_001407845.1:c.3953-141A>C
NM_001407846.1:c.3953-141A>C
NM_001407847.1:c.3953-141A>C
NM_001407848.1:c.3953-141A>C
NM_001407849.1:c.3953-141A>C
NM_001407850.1:c.3956-141A>C
NM_001407851.1:c.3956-141A>C
NM_001407852.1:c.3956-141A>C
NM_001407853.1:c.3884-141A>C
NM_001407854.1:c.4097-141A>C
NM_001407858.1:c.4097-141A>C
NM_001407859.1:c.4097-141A>C
NM_001407860.1:c.4094-141A>C
NM_001407861.1:c.4094-141A>C
NM_001407862.1:c.3896-141A>C
NM_001407863.1:c.3974-141A>C
NM_001407874.1:c.3893-141A>C
NM_001407875.1:c.3893-141A>C
NM_001407879.1:c.3887-141A>C
NM_001407881.1:c.3887-141A>C
NM_001407882.1:c.3887-141A>C
NM_001407884.1:c.3887-141A>C
NM_001407885.1:c.3887-141A>C
NM_001407886.1:c.3887-141A>C
NM_001407887.1:c.3887-141A>C
NM_001407889.1:c.3887-141A>C
NM_001407894.1:c.3884-141A>C
NM_001407895.1:c.3884-141A>C
NM_001407896.1:c.3884-141A>C
NM_001407897.1:c.3884-141A>C
NM_001407898.1:c.3884-141A>C
NM_001407899.1:c.3884-141A>C
NM_001407900.1:c.3887-141A>C
NM_001407902.1:c.3887-141A>C
NM_001407904.1:c.3887-141A>C
NM_001407906.1:c.3887-141A>C
NM_001407907.1:c.3887-141A>C
NM_001407908.1:c.3887-141A>C
NM_001407909.1:c.3887-141A>C
NM_001407910.1:c.3887-141A>C
NM_001407915.1:c.3884-141A>C
NM_001407916.1:c.3884-141A>C
NM_001407917.1:c.3884-141A>C
NM_001407918.1:c.3884-141A>C
NM_001407919.1:c.3974-141A>C
NM_001407920.1:c.3833-141A>C
NM_001407921.1:c.3833-141A>C
NM_001407922.1:c.3833-141A>C
NM_001407923.1:c.3833-141A>C
NM_001407924.1:c.3833-141A>C
NM_001407925.1:c.3833-141A>C
NM_001407926.1:c.3833-141A>C
NM_001407927.1:c.3833-141A>C
NM_001407928.1:c.3833-141A>C
NM_001407929.1:c.3833-141A>C
NM_001407930.1:c.3830-141A>C
NM_001407931.1:c.3830-141A>C
NM_001407932.1:c.3830-141A>C
NM_001407933.1:c.3833-141A>C
NM_001407934.1:c.3830-141A>C
NM_001407935.1:c.3833-141A>C
NM_001407936.1:c.3830-141A>C
NM_001407937.1:c.3974-141A>C
NM_001407938.1:c.3974-141A>C
NM_001407939.1:c.3974-141A>C
NM_001407940.1:c.3971-141A>C
NM_001407941.1:c.3971-141A>C
NM_001407942.1:c.3956-141A>C
NM_001407943.1:c.3953-141A>C
NM_001407944.1:c.3956-141A>C
NM_001407945.1:c.3956-141A>C
NM_001407946.1:c.3764-141A>C
NM_001407947.1:c.3764-141A>C
NM_001407948.1:c.3764-141A>C
NM_001407949.1:c.3764-141A>C
NM_001407950.1:c.3764-141A>C
NM_001407951.1:c.3764-141A>C
NM_001407952.1:c.3764-141A>C
NM_001407953.1:c.3764-141A>C
NM_001407954.1:c.3761-141A>C
NM_001407955.1:c.3761-141A>C
NM_001407956.1:c.3761-141A>C
NM_001407957.1:c.3764-141A>C
NM_001407958.1:c.3761-141A>C
NM_001407959.1:c.3716-141A>C
NM_001407960.1:c.3716-141A>C
NM_001407962.1:c.3713-141A>C
NM_001407963.1:c.3716-141A>C
NM_001407964.1:c.3953-141A>C
NM_001407965.1:c.3593-141A>C
NM_001407966.1:c.3209-141A>C
NM_001407967.1:c.3209-141A>C
NM_001407968.1:c.1493-141A>C
NM_001407969.1:c.1493-141A>C
NM_001407970.1:c.788-141A>C
NM_001407971.1:c.788-141A>C
NM_001407972.1:c.785-141A>C
NM_001407973.1:c.788-141A>C
NM_001407974.1:c.788-141A>C
NM_001407975.1:c.788-141A>C
NM_001407976.1:c.788-141A>C
NM_001407977.1:c.788-141A>C
NM_001407978.1:c.788-141A>C
NM_001407979.1:c.788-141A>C
NM_001407980.1:c.788-141A>C
NM_001407981.1:c.788-141A>C
NM_001407982.1:c.788-141A>C
NM_001407983.1:c.788-141A>C
NM_001407984.1:c.785-141A>C
NM_001407985.1:c.785-141A>C
NM_001407986.1:c.785-141A>C
NM_001407990.1:c.788-141A>C
NM_001407991.1:c.785-141A>C
NM_001407992.1:c.785-141A>C
NM_001407993.1:c.788-141A>C
NM_001408392.1:c.785-141A>C
NM_001408396.1:c.785-141A>C
NM_001408397.1:c.785-141A>C
NM_001408398.1:c.785-141A>C
NM_001408399.1:c.785-141A>C
NM_001408400.1:c.785-141A>C
NM_001408401.1:c.785-141A>C
NM_001408402.1:c.785-141A>C
NM_001408403.1:c.788-141A>C
NM_001408404.1:c.788-141A>C
NM_001408406.1:c.791-150A>C
NM_001408407.1:c.785-141A>C
NM_001408408.1:c.779-141A>C
NM_001408409.1:c.710-141A>C
NM_001408410.1:c.647-141A>C
NM_001408411.1:c.710-141A>C
NM_001408412.1:c.710-141A>C
NM_001408413.1:c.707-141A>C
NM_001408414.1:c.710-141A>C
NM_001408415.1:c.710-141A>C
NM_001408416.1:c.707-141A>C
NM_001408418.1:c.671-141A>C
NM_001408419.1:c.671-141A>C
NM_001408420.1:c.671-141A>C
NM_001408421.1:c.668-141A>C
NM_001408422.1:c.671-141A>C
NM_001408423.1:c.671-141A>C
NM_001408424.1:c.668-141A>C
NM_001408425.1:c.665-141A>C
NM_001408426.1:c.665-141A>C
NM_001408427.1:c.665-141A>C
NM_001408428.1:c.665-141A>C
NM_001408429.1:c.665-141A>C
NM_001408430.1:c.665-141A>C
NM_001408431.1:c.668-141A>C
NM_001408432.1:c.662-141A>C
NM_001408433.1:c.662-141A>C
NM_001408434.1:c.662-141A>C
NM_001408435.1:c.662-141A>C
NM_001408436.1:c.665-141A>C
NM_001408437.1:c.665-141A>C
NM_001408438.1:c.665-141A>C
NM_001408439.1:c.665-141A>C
NM_001408440.1:c.665-141A>C
NM_001408441.1:c.665-141A>C
NM_001408442.1:c.665-141A>C
NM_001408443.1:c.665-141A>C
NM_001408444.1:c.665-141A>C
NM_001408445.1:c.662-141A>C
NM_001408446.1:c.662-141A>C
NM_001408447.1:c.662-141A>C
NM_001408448.1:c.662-141A>C
NM_001408450.1:c.662-141A>C
NM_001408451.1:c.653-141A>C
NM_001408452.1:c.647-141A>C
NM_001408453.1:c.647-141A>C
NM_001408454.1:c.647-141A>C
NM_001408455.1:c.647-141A>C
NM_001408456.1:c.647-141A>C
NM_001408457.1:c.647-141A>C
NM_001408458.1:c.647-141A>C
NM_001408459.1:c.647-141A>C
NM_001408460.1:c.647-141A>C
NM_001408461.1:c.647-141A>C
NM_001408462.1:c.644-141A>C
NM_001408463.1:c.644-141A>C
NM_001408464.1:c.644-141A>C
NM_001408465.1:c.644-141A>C
NM_001408466.1:c.647-141A>C
NM_001408467.1:c.647-141A>C
NM_001408468.1:c.644-141A>C
NM_001408469.1:c.647-141A>C
NM_001408470.1:c.644-141A>C
NM_001408472.1:c.788-141A>C
NM_001408473.1:c.785-141A>C
NM_001408474.1:c.587-141A>C
NM_001408475.1:c.584-141A>C
NM_001408476.1:c.587-141A>C
NM_001408478.1:c.578-141A>C
NM_001408479.1:c.578-141A>C
NM_001408480.1:c.578-141A>C
NM_001408481.1:c.578-141A>C
NM_001408482.1:c.578-141A>C
NM_001408483.1:c.578-141A>C
NM_001408484.1:c.578-141A>C
NM_001408485.1:c.578-141A>C
NM_001408489.1:c.578-141A>C
NM_001408490.1:c.575-141A>C
NM_001408491.1:c.575-141A>C
NM_001408492.1:c.578-141A>C
NM_001408493.1:c.575-141A>C
NM_001408494.1:c.548-141A>C
NM_001408495.1:c.545-141A>C
NM_001408496.1:c.524-141A>C
NM_001408497.1:c.524-141A>C
NM_001408498.1:c.524-141A>C
NM_001408499.1:c.524-141A>C
NM_001408500.1:c.524-141A>C
NM_001408501.1:c.524-141A>C
NM_001408502.1:c.455-141A>C
NM_001408503.1:c.521-141A>C
NM_001408504.1:c.521-141A>C
NM_001408505.1:c.521-141A>C
NM_001408506.1:c.461-141A>C
NM_001408507.1:c.461-141A>C
NM_001408508.1:c.452-141A>C
NM_001408509.1:c.452-141A>C
NM_001408510.1:c.407-141A>C
NM_001408511.1:c.404-141A>C
NM_001408512.1:c.284-141A>C
NM_001408513.1:c.578-141A>C
NM_001408514.1:c.578-141A>C
NM_007294.4:c.4097-141A>CMANE SELECT
NM_007297.4:c.3956-141A>C
NM_007298.4:c.788-141A>C
NM_007299.4:c.788-141A>C
NM_007300.4:c.4097-141A>C
LRG_292t1:c.4097-141A>C
LRG_292:g.126811A>C
NC_000017.10:g.41243190T>G
NM_007294.3:c.4097-141A>C
U14680.1:n.4216-141A>C

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4216-141&base_change=A to C; dbSNP: rs799916

NCBI 1000 Genomes Browser:

rs799916

Molecular consequence:

NM_001407571.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.4088-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.4088-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.4019-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.4019-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.4019-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.4019-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.4019-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.4019-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.4016-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.4016-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.4016-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.4016-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.4019-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.4094-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.3896-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.3893-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.3893-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.3887-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.3884-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.3830-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.3830-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.3830-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.3830-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.3833-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.3830-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.3974-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.3971-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.3761-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.3761-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.3761-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.3764-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.3761-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.3716-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.3716-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.3713-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.3716-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.3953-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.3593-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.3209-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.3209-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.1493-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.1493-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-150A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.3956-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-141A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.4097-141A>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; 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
SCV000144975	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Aug 7, 2009)	unknown	clinical testing
SCV000244743	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,
SCV000743397	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Oct 9, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000144975

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Uncertain significance
(Aug 7, 2009)

unknown

clinical testing

SCV000244743

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,

SCV000743397

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Benign
(Oct 9, 2014)

germline

clinical testing

Citation Link

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	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
Chinese	not provided	yes	3	not provided	not provided	not provided	not provided	clinical testing
Indian	not provided	yes	3	not provided	not provided	not provided	not provided	clinical testing
Malay	not provided	yes	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144975.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Chinese	3	not provided	not provided	clinical testing	not provided
2	Indian	3	not provided	not provided	clinical testing	not provided
3	Malay	3	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	unknown	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
2	unknown	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
3	unknown	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244743.1

#	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 0.3304 (Asian), 0.2846 (African), 0.3681 (European), 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 Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743397.1

#	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: Jun 8, 2025

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