NM_007294.4(BRCA1):c.81-14C>T AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (9 submissions)
Last evaluated:: Jun 18, 2019
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:: RCV000031283.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-14C>T]

NM_007294.4(BRCA1):c.81-14C>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.81-14C>T

HGVS:

NC_000017.11:g.43115793G>A
NG_005905.2:g.102191C>T
NM_001407571.1:c.-108-14C>T
NM_001407581.1:c.81-14C>T
NM_001407582.1:c.81-14C>T
NM_001407583.1:c.81-14C>T
NM_001407585.1:c.81-14C>T
NM_001407587.1:c.81-14C>T
NM_001407590.1:c.81-14C>T
NM_001407591.1:c.81-14C>T
NM_001407593.1:c.81-14C>T
NM_001407594.1:c.81-14C>T
NM_001407596.1:c.81-14C>T
NM_001407597.1:c.81-14C>T
NM_001407598.1:c.81-14C>T
NM_001407602.1:c.81-14C>T
NM_001407603.1:c.81-14C>T
NM_001407605.1:c.81-14C>T
NM_001407610.1:c.81-14C>T
NM_001407611.1:c.81-14C>T
NM_001407612.1:c.81-14C>T
NM_001407613.1:c.81-14C>T
NM_001407614.1:c.81-14C>T
NM_001407615.1:c.81-14C>T
NM_001407616.1:c.81-14C>T
NM_001407617.1:c.81-14C>T
NM_001407618.1:c.81-14C>T
NM_001407619.1:c.81-14C>T
NM_001407620.1:c.81-14C>T
NM_001407621.1:c.81-14C>T
NM_001407622.1:c.81-14C>T
NM_001407623.1:c.81-14C>T
NM_001407624.1:c.81-14C>T
NM_001407625.1:c.81-14C>T
NM_001407626.1:c.81-14C>T
NM_001407627.1:c.81-14C>T
NM_001407628.1:c.81-14C>T
NM_001407629.1:c.81-14C>T
NM_001407630.1:c.81-14C>T
NM_001407631.1:c.81-14C>T
NM_001407632.1:c.81-14C>T
NM_001407633.1:c.81-14C>T
NM_001407634.1:c.81-14C>T
NM_001407635.1:c.81-14C>T
NM_001407636.1:c.81-14C>T
NM_001407637.1:c.81-14C>T
NM_001407638.1:c.81-14C>T
NM_001407639.1:c.81-14C>T
NM_001407640.1:c.81-14C>T
NM_001407641.1:c.81-14C>T
NM_001407642.1:c.81-14C>T
NM_001407644.1:c.81-14C>T
NM_001407645.1:c.81-14C>T
NM_001407646.1:c.81-14C>T
NM_001407647.1:c.81-14C>T
NM_001407648.1:c.81-14C>T
NM_001407649.1:c.81-14C>T
NM_001407652.1:c.81-14C>T
NM_001407653.1:c.81-14C>T
NM_001407654.1:c.81-14C>T
NM_001407655.1:c.81-14C>T
NM_001407656.1:c.81-14C>T
NM_001407657.1:c.81-14C>T
NM_001407658.1:c.81-14C>T
NM_001407659.1:c.81-14C>T
NM_001407660.1:c.81-14C>T
NM_001407661.1:c.81-14C>T
NM_001407662.1:c.81-14C>T
NM_001407663.1:c.81-14C>T
NM_001407664.1:c.81-14C>T
NM_001407665.1:c.81-14C>T
NM_001407666.1:c.81-14C>T
NM_001407667.1:c.81-14C>T
NM_001407668.1:c.81-14C>T
NM_001407669.1:c.81-14C>T
NM_001407670.1:c.81-14C>T
NM_001407671.1:c.81-14C>T
NM_001407672.1:c.81-14C>T
NM_001407673.1:c.81-14C>T
NM_001407674.1:c.81-14C>T
NM_001407675.1:c.81-14C>T
NM_001407676.1:c.81-14C>T
NM_001407677.1:c.81-14C>T
NM_001407678.1:c.81-14C>T
NM_001407679.1:c.81-14C>T
NM_001407680.1:c.81-14C>T
NM_001407681.1:c.81-14C>T
NM_001407682.1:c.81-14C>T
NM_001407683.1:c.81-14C>T
NM_001407684.1:c.81-14C>T
NM_001407685.1:c.81-14C>T
NM_001407686.1:c.81-14C>T
NM_001407687.1:c.81-14C>T
NM_001407688.1:c.81-14C>T
NM_001407689.1:c.81-14C>T
NM_001407690.1:c.81-14C>T
NM_001407691.1:c.81-14C>T
NM_001407692.1:c.-7-9260C>T
NM_001407694.1:c.-177-14C>T
NM_001407695.1:c.-181-14C>T
NM_001407696.1:c.-177-14C>T
NM_001407697.1:c.-61-14C>T
NM_001407698.1:c.-8+8224C>T
NM_001407724.1:c.-177-14C>T
NM_001407725.1:c.-61-14C>T
NM_001407726.1:c.-8+5765C>T
NM_001407727.1:c.-177-14C>T
NM_001407728.1:c.-61-14C>T
NM_001407729.1:c.-61-14C>T
NM_001407730.1:c.-61-14C>T
NM_001407731.1:c.-177-14C>T
NM_001407732.1:c.-8+8224C>T
NM_001407733.1:c.-177-14C>T
NM_001407734.1:c.-61-14C>T
NM_001407735.1:c.-61-14C>T
NM_001407736.1:c.-8+8224C>T
NM_001407737.1:c.-61-14C>T
NM_001407738.1:c.-8+8224C>T
NM_001407739.1:c.-61-14C>T
NM_001407740.1:c.-61-14C>T
NM_001407741.1:c.-61-14C>T
NM_001407742.1:c.-8+8224C>T
NM_001407743.1:c.-61-14C>T
NM_001407744.1:c.-8+8224C>T
NM_001407745.1:c.-61-14C>T
NM_001407746.1:c.-177-14C>T
NM_001407747.1:c.-7-9260C>T
NM_001407748.1:c.-61-14C>T
NM_001407749.1:c.-177-14C>T
NM_001407750.1:c.-8+8224C>T
NM_001407751.1:c.-8+5765C>T
NM_001407752.1:c.-61-14C>T
NM_001407838.1:c.-61-14C>T
NM_001407839.1:c.-61-14C>T
NM_001407841.1:c.-57-14C>T
NM_001407842.1:c.-177-14C>T
NM_001407843.1:c.-177-14C>T
NM_001407844.1:c.-61-14C>T
NM_001407845.1:c.-8+8224C>T
NM_001407846.1:c.-61-14C>T
NM_001407847.1:c.-61-14C>T
NM_001407848.1:c.-61-14C>T
NM_001407849.1:c.-8+8224C>T
NM_001407850.1:c.-61-14C>T
NM_001407851.1:c.-61-14C>T
NM_001407852.1:c.-8+8224C>T
NM_001407853.1:c.-108-14C>T
NM_001407854.1:c.81-14C>T
NM_001407858.1:c.81-14C>T
NM_001407859.1:c.81-14C>T
NM_001407860.1:c.81-14C>T
NM_001407861.1:c.81-14C>T
NM_001407862.1:c.81-14C>T
NM_001407863.1:c.81-14C>T
NM_001407874.1:c.81-14C>T
NM_001407875.1:c.81-14C>T
NM_001407879.1:c.-108-14C>T
NM_001407881.1:c.-55+8224C>T
NM_001407882.1:c.-108-14C>T
NM_001407884.1:c.-108-14C>T
NM_001407885.1:c.-108-14C>T
NM_001407886.1:c.-108-14C>T
NM_001407887.1:c.-108-14C>T
NM_001407889.1:c.-224-14C>T
NM_001407894.1:c.-108-14C>T
NM_001407895.1:c.-108-14C>T
NM_001407896.1:c.-108-14C>T
NM_001407897.1:c.-108-14C>T
NM_001407898.1:c.-55+8224C>T
NM_001407899.1:c.-108-14C>T
NM_001407900.1:c.-224-14C>T
NM_001407902.1:c.-55+8224C>T
NM_001407904.1:c.-108-14C>T
NM_001407906.1:c.-108-14C>T
NM_001407907.1:c.-108-14C>T
NM_001407908.1:c.-108-14C>T
NM_001407909.1:c.-108-14C>T
NM_001407910.1:c.-108-14C>T
NM_001407915.1:c.-108-14C>T
NM_001407916.1:c.-108-14C>T
NM_001407917.1:c.-108-14C>T
NM_001407918.1:c.-108-14C>T
NM_001407919.1:c.81-14C>T
NM_001407920.1:c.-61-14C>T
NM_001407921.1:c.-61-14C>T
NM_001407922.1:c.-61-14C>T
NM_001407923.1:c.-61-14C>T
NM_001407924.1:c.-8+8224C>T
NM_001407925.1:c.-8+8224C>T
NM_001407926.1:c.-61-14C>T
NM_001407927.1:c.-61-14C>T
NM_001407928.1:c.-8+8224C>T
NM_001407929.1:c.-8+8224C>T
NM_001407930.1:c.-177-14C>T
NM_001407931.1:c.-7-9260C>T
NM_001407932.1:c.-8+8224C>T
NM_001407933.1:c.-61-14C>T
NM_001407934.1:c.-61-14C>T
NM_001407935.1:c.-61-14C>T
NM_001407936.1:c.-8+8224C>T
NM_001407937.1:c.81-14C>T
NM_001407938.1:c.81-14C>T
NM_001407939.1:c.81-14C>T
NM_001407940.1:c.81-14C>T
NM_001407941.1:c.81-14C>T
NM_001407942.1:c.-177-14C>T
NM_001407943.1:c.-61-14C>T
NM_001407944.1:c.-61-14C>T
NM_001407945.1:c.-8+8224C>T
NM_001407946.1:c.-108-14C>T
NM_001407947.1:c.-108-14C>T
NM_001407948.1:c.-108-14C>T
NM_001407949.1:c.-108-14C>T
NM_001407950.1:c.-108-14C>T
NM_001407951.1:c.-108-14C>T
NM_001407952.1:c.-108-14C>T
NM_001407953.1:c.-108-14C>T
NM_001407954.1:c.-108-14C>T
NM_001407955.1:c.-108-14C>T
NM_001407956.1:c.-108-14C>T
NM_001407957.1:c.-108-14C>T
NM_001407958.1:c.-108-14C>T
NM_001407959.1:c.-170+9484C>T
NM_001407960.1:c.-223-14C>T
NM_001407962.1:c.-223-14C>T
NM_001407963.1:c.-170+9478C>T
NM_001407964.1:c.-61-14C>T
NM_001407965.1:c.-339-14C>T
NM_001407966.1:c.-219+9478C>T
NM_001407967.1:c.-219+9484C>T
NM_001407968.1:c.81-14C>T
NM_001407969.1:c.81-14C>T
NM_001407970.1:c.81-14C>T
NM_001407971.1:c.81-14C>T
NM_001407972.1:c.81-14C>T
NM_001407973.1:c.81-14C>T
NM_001407974.1:c.81-14C>T
NM_001407975.1:c.81-14C>T
NM_001407976.1:c.81-14C>T
NM_001407977.1:c.81-14C>T
NM_001407978.1:c.81-14C>T
NM_001407979.1:c.81-14C>T
NM_001407980.1:c.81-14C>T
NM_001407981.1:c.81-14C>T
NM_001407982.1:c.81-14C>T
NM_001407983.1:c.81-14C>T
NM_001407984.1:c.81-14C>T
NM_001407985.1:c.81-14C>T
NM_001407986.1:c.81-14C>T
NM_001407990.1:c.81-14C>T
NM_001407991.1:c.81-14C>T
NM_001407992.1:c.81-14C>T
NM_001407993.1:c.81-14C>T
NM_001408392.1:c.81-14C>T
NM_001408396.1:c.81-14C>T
NM_001408397.1:c.81-14C>T
NM_001408398.1:c.81-14C>T
NM_001408399.1:c.81-14C>T
NM_001408400.1:c.81-14C>T
NM_001408401.1:c.81-14C>T
NM_001408402.1:c.81-14C>T
NM_001408403.1:c.81-14C>T
NM_001408404.1:c.81-14C>T
NM_001408406.1:c.81-14C>T
NM_001408407.1:c.81-14C>T
NM_001408408.1:c.81-14C>T
NM_001408409.1:c.81-14C>T
NM_001408410.1:c.-61-14C>T
NM_001408411.1:c.81-14C>T
NM_001408412.1:c.81-14C>T
NM_001408413.1:c.81-14C>T
NM_001408414.1:c.81-14C>T
NM_001408415.1:c.81-14C>T
NM_001408416.1:c.81-14C>T
NM_001408418.1:c.81-14C>T
NM_001408419.1:c.81-14C>T
NM_001408420.1:c.81-14C>T
NM_001408421.1:c.81-14C>T
NM_001408422.1:c.81-14C>T
NM_001408423.1:c.81-14C>T
NM_001408424.1:c.81-14C>T
NM_001408425.1:c.81-14C>T
NM_001408426.1:c.81-14C>T
NM_001408427.1:c.81-14C>T
NM_001408428.1:c.81-14C>T
NM_001408429.1:c.81-14C>T
NM_001408430.1:c.81-14C>T
NM_001408431.1:c.81-14C>T
NM_001408432.1:c.81-14C>T
NM_001408433.1:c.81-14C>T
NM_001408434.1:c.81-14C>T
NM_001408435.1:c.81-14C>T
NM_001408436.1:c.81-14C>T
NM_001408437.1:c.81-14C>T
NM_001408438.1:c.81-14C>T
NM_001408439.1:c.81-14C>T
NM_001408440.1:c.81-14C>T
NM_001408441.1:c.81-14C>T
NM_001408442.1:c.81-14C>T
NM_001408443.1:c.81-14C>T
NM_001408444.1:c.81-14C>T
NM_001408445.1:c.81-14C>T
NM_001408446.1:c.81-14C>T
NM_001408447.1:c.81-14C>T
NM_001408448.1:c.81-14C>T
NM_001408450.1:c.81-14C>T
NM_001408451.1:c.80+8224C>T
NM_001408452.1:c.-61-14C>T
NM_001408453.1:c.-61-14C>T
NM_001408454.1:c.-8+8224C>T
NM_001408455.1:c.-177-14C>T
NM_001408456.1:c.-177-14C>T
NM_001408457.1:c.-7-9260C>T
NM_001408458.1:c.-61-14C>T
NM_001408459.1:c.-8+8224C>T
NM_001408460.1:c.-8+8224C>T
NM_001408461.1:c.-8+8224C>T
NM_001408462.1:c.-61-14C>T
NM_001408463.1:c.-61-14C>T
NM_001408464.1:c.-8+8224C>T
NM_001408465.1:c.-181-14C>T
NM_001408466.1:c.-61-14C>T
NM_001408467.1:c.-8+8224C>T
NM_001408468.1:c.-177-14C>T
NM_001408469.1:c.-61-14C>T
NM_001408470.1:c.-61-14C>T
NM_001408472.1:c.81-14C>T
NM_001408473.1:c.81-14C>T
NM_001408474.1:c.81-14C>T
NM_001408475.1:c.81-14C>T
NM_001408476.1:c.81-14C>T
NM_001408478.1:c.-108-14C>T
NM_001408479.1:c.-108-14C>T
NM_001408480.1:c.-108-14C>T
NM_001408481.1:c.-108-14C>T
NM_001408482.1:c.-108-14C>T
NM_001408483.1:c.-108-14C>T
NM_001408484.1:c.-108-14C>T
NM_001408485.1:c.-108-14C>T
NM_001408489.1:c.-108-14C>T
NM_001408490.1:c.-108-14C>T
NM_001408491.1:c.-108-14C>T
NM_001408492.1:c.-224-14C>T
NM_001408493.1:c.-108-14C>T
NM_001408494.1:c.81-14C>T
NM_001408495.1:c.81-14C>T
NM_001408496.1:c.-8+8224C>T
NM_001408497.1:c.-61-14C>T
NM_001408498.1:c.-8+8224C>T
NM_001408499.1:c.-61-14C>T
NM_001408500.1:c.-61-14C>T
NM_001408501.1:c.-177-14C>T
NM_001408502.1:c.-108-14C>T
NM_001408503.1:c.-61-14C>T
NM_001408504.1:c.-61-14C>T
NM_001408505.1:c.-61-14C>T
NM_001408506.1:c.-108-14C>T
NM_001408507.1:c.-108-14C>T
NM_001408508.1:c.-108-14C>T
NM_001408509.1:c.-108-14C>T
NM_001408510.1:c.-223-14C>T
NM_001408511.1:c.-7-9260C>T
NM_001408512.1:c.-223-14C>T
NM_001408513.1:c.-108-14C>T
NM_001408514.1:c.-108-14C>T
NM_007294.4:c.81-14C>TMANE SELECT
NM_007297.4:c.-8+8224C>T
NM_007298.4:c.81-14C>T
NM_007299.4:c.81-14C>T
NM_007300.4:c.81-14C>T
LRG_292t1:c.81-14C>T
LRG_292:g.102191C>T
NC_000017.10:g.41267810G>A
NM_007294.3:c.81-14C>T
NM_007297.3:c.-8+8224C>T
NM_007299.3:c.81-14C>T
NM_007300.3:c.81-14C>T
U14680.1:n.200-14C>T

Nucleotide change:

IVS2-14C>T

Links:

Breast Cancer Information Core (BIC) (BRCA1): 200-14&base_change=C to T; dbSNP: rs80358006

NCBI 1000 Genomes Browser:

rs80358006

Molecular consequence:

NM_001407571.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.-181-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5765C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5765C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.-57-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.-224-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.-224-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9484C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-223-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-223-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9478C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-339-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9478C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9484C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.-181-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.-224-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-223-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-223-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

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

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

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
SCV000053888	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (Feb 23, 2006)	germline	clinical testing
SCV000144222	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000195876	Michigan Medical Genetics Laboratories, University of Michigan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 3, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000220259	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Benign (Apr 18, 2014)	unknown	literature only	PubMed (9) [See all records that cite these PMIDs] 20054658, 21735045, 12759930, 23893897, 12955716, 18824701, 24667779, 16267036, 22505045 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000733683	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001140650	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001161599	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Benign (Jun 18, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001237809	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004244199	BRCAlab, Lund University	no assertion criteria provided	Benign (Mar 2, 2020)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	27	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
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, literature only
Caucasian	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European, Latin American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Honduran	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	16	not provided	not provided	not provided	not provided	clinical testing
Western European, Ashkenazi	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Italian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western Europeanan, Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not.

Beristain E, Guerra I, Vidaurrazaga N, Burgos-Bretones J, Tejada MI.

Fam Cancer. 2010 Sep;9(3):289-90. doi: 10.1007/s10689-009-9318-9. No abstract available.

PubMed [citation]

PMID:: 20054658

See all PubMed Citations (12)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053888.3

#	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	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144222.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	24	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	not provided	1	not provided	not provided	clinical testing	not provided
4	not provided	1	not provided	not provided	clinical testing	not provided
5	Caucasian	2	not provided	not provided	clinical testing	not provided
6	Central/Eastern European	2	not provided	not provided	clinical testing	not provided
7	Central/Eastern European, Latin American	1	not provided	not provided	clinical testing	not provided
8	Honduran	1	not provided	not provided	clinical testing	not provided
9	Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
10	Western European	16	not provided	not provided	clinical testing	not provided
11	Western European, Ashkenazi	1	not provided	not provided	clinical testing	not provided
12	Western European, Italian	1	not provided	not provided	clinical testing	not provided
13	Western Europeanan, Central/Eastern European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		24	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
10	germline	yes	not provided	not provided	not provided		16	not provided	not provided	not provided
11	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
12	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
13	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000195876.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	not provided		not provided	not provided	not provided	not provided

From Counsyl, SCV000220259.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (9)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733683.1

#	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

From Mendelics, SCV001140650.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161599.2

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 1.76E-08

#	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 Brotman Baty Institute, University of Washington, SCV001237809.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From BRCAlab, Lund University, SCV004244199.1

#	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: Oct 8, 2024

Relating variation to medicine