NM_007294.4(BRCA1):c.134+3A>C AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Dec 21, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000111851.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.134+3A>C]

NM_007294.4(BRCA1):c.134+3A>C

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.134+3A>C

Other names:

IVS3+3A>C

HGVS:

NC_000017.11:g.43115723T>G
NG_005905.2:g.102261A>C
NM_001407571.1:c.-55+3A>C
NM_001407581.1:c.134+3A>C
NM_001407582.1:c.134+3A>C
NM_001407583.1:c.134+3A>C
NM_001407585.1:c.134+3A>C
NM_001407587.1:c.134+3A>C
NM_001407590.1:c.134+3A>C
NM_001407591.1:c.134+3A>C
NM_001407593.1:c.134+3A>C
NM_001407594.1:c.134+3A>C
NM_001407596.1:c.134+3A>C
NM_001407597.1:c.134+3A>C
NM_001407598.1:c.134+3A>C
NM_001407602.1:c.134+3A>C
NM_001407603.1:c.134+3A>C
NM_001407605.1:c.134+3A>C
NM_001407610.1:c.134+3A>C
NM_001407611.1:c.134+3A>C
NM_001407612.1:c.134+3A>C
NM_001407613.1:c.134+3A>C
NM_001407614.1:c.134+3A>C
NM_001407615.1:c.134+3A>C
NM_001407616.1:c.134+3A>C
NM_001407617.1:c.134+3A>C
NM_001407618.1:c.134+3A>C
NM_001407619.1:c.134+3A>C
NM_001407620.1:c.134+3A>C
NM_001407621.1:c.134+3A>C
NM_001407622.1:c.134+3A>C
NM_001407623.1:c.134+3A>C
NM_001407624.1:c.134+3A>C
NM_001407625.1:c.134+3A>C
NM_001407626.1:c.134+3A>C
NM_001407627.1:c.134+3A>C
NM_001407628.1:c.134+3A>C
NM_001407629.1:c.134+3A>C
NM_001407630.1:c.134+3A>C
NM_001407631.1:c.134+3A>C
NM_001407632.1:c.134+3A>C
NM_001407633.1:c.134+3A>C
NM_001407634.1:c.134+3A>C
NM_001407635.1:c.134+3A>C
NM_001407636.1:c.134+3A>C
NM_001407637.1:c.134+3A>C
NM_001407638.1:c.134+3A>C
NM_001407639.1:c.134+3A>C
NM_001407640.1:c.134+3A>C
NM_001407641.1:c.134+3A>C
NM_001407642.1:c.134+3A>C
NM_001407644.1:c.134+3A>C
NM_001407645.1:c.134+3A>C
NM_001407646.1:c.134+3A>C
NM_001407647.1:c.134+3A>C
NM_001407648.1:c.134+3A>C
NM_001407649.1:c.134+3A>C
NM_001407652.1:c.134+3A>C
NM_001407653.1:c.134+3A>C
NM_001407654.1:c.134+3A>C
NM_001407655.1:c.134+3A>C
NM_001407656.1:c.134+3A>C
NM_001407657.1:c.134+3A>C
NM_001407658.1:c.134+3A>C
NM_001407659.1:c.134+3A>C
NM_001407660.1:c.134+3A>C
NM_001407661.1:c.134+3A>C
NM_001407662.1:c.134+3A>C
NM_001407663.1:c.134+3A>C
NM_001407664.1:c.134+3A>C
NM_001407665.1:c.134+3A>C
NM_001407666.1:c.134+3A>C
NM_001407667.1:c.134+3A>C
NM_001407668.1:c.134+3A>C
NM_001407669.1:c.134+3A>C
NM_001407670.1:c.134+3A>C
NM_001407671.1:c.134+3A>C
NM_001407672.1:c.134+3A>C
NM_001407673.1:c.134+3A>C
NM_001407674.1:c.134+3A>C
NM_001407675.1:c.134+3A>C
NM_001407676.1:c.134+3A>C
NM_001407677.1:c.134+3A>C
NM_001407678.1:c.134+3A>C
NM_001407679.1:c.134+3A>C
NM_001407680.1:c.134+3A>C
NM_001407681.1:c.134+3A>C
NM_001407682.1:c.134+3A>C
NM_001407683.1:c.134+3A>C
NM_001407684.1:c.134+3A>C
NM_001407685.1:c.134+3A>C
NM_001407686.1:c.134+3A>C
NM_001407687.1:c.134+3A>C
NM_001407688.1:c.134+3A>C
NM_001407689.1:c.134+3A>C
NM_001407690.1:c.134+3A>C
NM_001407691.1:c.134+3A>C
NM_001407692.1:c.-7-9190A>C
NM_001407694.1:c.-124+3A>C
NM_001407695.1:c.-128+3A>C
NM_001407696.1:c.-124+3A>C
NM_001407697.1:c.-8+3A>C
NM_001407698.1:c.-8+8294A>C
NM_001407724.1:c.-124+3A>C
NM_001407725.1:c.-8+3A>C
NM_001407726.1:c.-8+5835A>C
NM_001407727.1:c.-124+3A>C
NM_001407728.1:c.-8+3A>C
NM_001407729.1:c.-8+3A>C
NM_001407730.1:c.-8+3A>C
NM_001407731.1:c.-124+3A>C
NM_001407732.1:c.-8+8294A>C
NM_001407733.1:c.-124+3A>C
NM_001407734.1:c.-8+3A>C
NM_001407735.1:c.-8+3A>C
NM_001407736.1:c.-8+8294A>C
NM_001407737.1:c.-8+3A>C
NM_001407738.1:c.-8+8294A>C
NM_001407739.1:c.-8+3A>C
NM_001407740.1:c.-8+3A>C
NM_001407741.1:c.-8+3A>C
NM_001407742.1:c.-8+8294A>C
NM_001407743.1:c.-8+3A>C
NM_001407744.1:c.-8+8294A>C
NM_001407745.1:c.-8+3A>C
NM_001407746.1:c.-124+3A>C
NM_001407747.1:c.-7-9190A>C
NM_001407748.1:c.-8+3A>C
NM_001407749.1:c.-124+3A>C
NM_001407750.1:c.-8+8294A>C
NM_001407751.1:c.-8+5835A>C
NM_001407752.1:c.-8+3A>C
NM_001407838.1:c.-8+3A>C
NM_001407839.1:c.-8+3A>C
NM_001407841.1:c.-8+7A>C
NM_001407842.1:c.-124+3A>C
NM_001407843.1:c.-124+3A>C
NM_001407844.1:c.-8+3A>C
NM_001407845.1:c.-8+8294A>C
NM_001407846.1:c.-8+3A>C
NM_001407847.1:c.-8+3A>C
NM_001407848.1:c.-8+3A>C
NM_001407849.1:c.-8+8294A>C
NM_001407850.1:c.-8+3A>C
NM_001407851.1:c.-8+3A>C
NM_001407852.1:c.-8+8294A>C
NM_001407853.1:c.-55+3A>C
NM_001407854.1:c.134+3A>C
NM_001407858.1:c.134+3A>C
NM_001407859.1:c.134+3A>C
NM_001407860.1:c.134+3A>C
NM_001407861.1:c.134+3A>C
NM_001407862.1:c.134+3A>C
NM_001407863.1:c.134+3A>C
NM_001407874.1:c.134+3A>C
NM_001407875.1:c.134+3A>C
NM_001407879.1:c.-55+3A>C
NM_001407881.1:c.-55+8294A>C
NM_001407882.1:c.-55+3A>C
NM_001407884.1:c.-55+3A>C
NM_001407885.1:c.-55+3A>C
NM_001407886.1:c.-55+3A>C
NM_001407887.1:c.-55+3A>C
NM_001407889.1:c.-171+3A>C
NM_001407894.1:c.-55+3A>C
NM_001407895.1:c.-55+3A>C
NM_001407896.1:c.-55+3A>C
NM_001407897.1:c.-55+3A>C
NM_001407898.1:c.-55+8294A>C
NM_001407899.1:c.-55+3A>C
NM_001407900.1:c.-171+3A>C
NM_001407902.1:c.-55+8294A>C
NM_001407904.1:c.-55+3A>C
NM_001407906.1:c.-55+3A>C
NM_001407907.1:c.-55+3A>C
NM_001407908.1:c.-55+3A>C
NM_001407909.1:c.-55+3A>C
NM_001407910.1:c.-55+3A>C
NM_001407915.1:c.-55+3A>C
NM_001407916.1:c.-55+3A>C
NM_001407917.1:c.-55+3A>C
NM_001407918.1:c.-55+3A>C
NM_001407919.1:c.134+3A>C
NM_001407920.1:c.-8+3A>C
NM_001407921.1:c.-8+3A>C
NM_001407922.1:c.-8+3A>C
NM_001407923.1:c.-8+3A>C
NM_001407924.1:c.-8+8294A>C
NM_001407925.1:c.-8+8294A>C
NM_001407926.1:c.-8+3A>C
NM_001407927.1:c.-8+3A>C
NM_001407928.1:c.-8+8294A>C
NM_001407929.1:c.-8+8294A>C
NM_001407930.1:c.-124+3A>C
NM_001407931.1:c.-7-9190A>C
NM_001407932.1:c.-8+8294A>C
NM_001407933.1:c.-8+3A>C
NM_001407934.1:c.-8+3A>C
NM_001407935.1:c.-8+3A>C
NM_001407936.1:c.-8+8294A>C
NM_001407937.1:c.134+3A>C
NM_001407938.1:c.134+3A>C
NM_001407939.1:c.134+3A>C
NM_001407940.1:c.134+3A>C
NM_001407941.1:c.134+3A>C
NM_001407942.1:c.-124+3A>C
NM_001407943.1:c.-8+3A>C
NM_001407944.1:c.-8+3A>C
NM_001407945.1:c.-8+8294A>C
NM_001407946.1:c.-55+3A>C
NM_001407947.1:c.-55+3A>C
NM_001407948.1:c.-55+3A>C
NM_001407949.1:c.-55+3A>C
NM_001407950.1:c.-55+3A>C
NM_001407951.1:c.-55+3A>C
NM_001407952.1:c.-55+3A>C
NM_001407953.1:c.-55+3A>C
NM_001407954.1:c.-55+3A>C
NM_001407955.1:c.-55+3A>C
NM_001407956.1:c.-55+3A>C
NM_001407957.1:c.-55+3A>C
NM_001407958.1:c.-55+3A>C
NM_001407959.1:c.-170+9554A>C
NM_001407960.1:c.-170+3A>C
NM_001407962.1:c.-170+3A>C
NM_001407963.1:c.-170+9548A>C
NM_001407964.1:c.-8+3A>C
NM_001407965.1:c.-286+3A>C
NM_001407966.1:c.-219+9548A>C
NM_001407967.1:c.-219+9554A>C
NM_001407968.1:c.134+3A>C
NM_001407969.1:c.134+3A>C
NM_001407970.1:c.134+3A>C
NM_001407971.1:c.134+3A>C
NM_001407972.1:c.134+3A>C
NM_001407973.1:c.134+3A>C
NM_001407974.1:c.134+3A>C
NM_001407975.1:c.134+3A>C
NM_001407976.1:c.134+3A>C
NM_001407977.1:c.134+3A>C
NM_001407978.1:c.134+3A>C
NM_001407979.1:c.134+3A>C
NM_001407980.1:c.134+3A>C
NM_001407981.1:c.134+3A>C
NM_001407982.1:c.134+3A>C
NM_001407983.1:c.134+3A>C
NM_001407984.1:c.134+3A>C
NM_001407985.1:c.134+3A>C
NM_001407986.1:c.134+3A>C
NM_001407990.1:c.134+3A>C
NM_001407991.1:c.134+3A>C
NM_001407992.1:c.134+3A>C
NM_001407993.1:c.134+3A>C
NM_001408392.1:c.134+3A>C
NM_001408396.1:c.134+3A>C
NM_001408397.1:c.134+3A>C
NM_001408398.1:c.134+3A>C
NM_001408399.1:c.134+3A>C
NM_001408400.1:c.134+3A>C
NM_001408401.1:c.134+3A>C
NM_001408402.1:c.134+3A>C
NM_001408403.1:c.134+3A>C
NM_001408404.1:c.134+3A>C
NM_001408406.1:c.134+3A>C
NM_001408407.1:c.134+3A>C
NM_001408408.1:c.134+3A>C
NM_001408409.1:c.134+3A>C
NM_001408410.1:c.-8+3A>C
NM_001408411.1:c.134+3A>C
NM_001408412.1:c.134+3A>C
NM_001408413.1:c.134+3A>C
NM_001408414.1:c.134+3A>C
NM_001408415.1:c.134+3A>C
NM_001408416.1:c.134+3A>C
NM_001408418.1:c.134+3A>C
NM_001408419.1:c.134+3A>C
NM_001408420.1:c.134+3A>C
NM_001408421.1:c.134+3A>C
NM_001408422.1:c.134+3A>C
NM_001408423.1:c.134+3A>C
NM_001408424.1:c.134+3A>C
NM_001408425.1:c.134+3A>C
NM_001408426.1:c.134+3A>C
NM_001408427.1:c.134+3A>C
NM_001408428.1:c.134+3A>C
NM_001408429.1:c.134+3A>C
NM_001408430.1:c.134+3A>C
NM_001408431.1:c.134+3A>C
NM_001408432.1:c.134+3A>C
NM_001408433.1:c.134+3A>C
NM_001408434.1:c.134+3A>C
NM_001408435.1:c.134+3A>C
NM_001408436.1:c.134+3A>C
NM_001408437.1:c.134+3A>C
NM_001408438.1:c.134+3A>C
NM_001408439.1:c.134+3A>C
NM_001408440.1:c.134+3A>C
NM_001408441.1:c.134+3A>C
NM_001408442.1:c.134+3A>C
NM_001408443.1:c.134+3A>C
NM_001408444.1:c.134+3A>C
NM_001408445.1:c.134+3A>C
NM_001408446.1:c.134+3A>C
NM_001408447.1:c.134+3A>C
NM_001408448.1:c.134+3A>C
NM_001408450.1:c.134+3A>C
NM_001408451.1:c.80+8294A>C
NM_001408452.1:c.-8+3A>C
NM_001408453.1:c.-8+3A>C
NM_001408454.1:c.-8+8294A>C
NM_001408455.1:c.-124+3A>C
NM_001408456.1:c.-124+3A>C
NM_001408457.1:c.-7-9190A>C
NM_001408458.1:c.-8+3A>C
NM_001408459.1:c.-8+8294A>C
NM_001408460.1:c.-8+8294A>C
NM_001408461.1:c.-8+8294A>C
NM_001408462.1:c.-8+3A>C
NM_001408463.1:c.-8+3A>C
NM_001408464.1:c.-8+8294A>C
NM_001408465.1:c.-128+3A>C
NM_001408466.1:c.-8+3A>C
NM_001408467.1:c.-8+8294A>C
NM_001408468.1:c.-124+3A>C
NM_001408469.1:c.-8+3A>C
NM_001408470.1:c.-8+3A>C
NM_001408472.1:c.134+3A>C
NM_001408473.1:c.134+3A>C
NM_001408474.1:c.134+3A>C
NM_001408475.1:c.134+3A>C
NM_001408476.1:c.134+3A>C
NM_001408478.1:c.-55+3A>C
NM_001408479.1:c.-55+3A>C
NM_001408480.1:c.-55+3A>C
NM_001408481.1:c.-55+3A>C
NM_001408482.1:c.-55+3A>C
NM_001408483.1:c.-55+3A>C
NM_001408484.1:c.-55+3A>C
NM_001408485.1:c.-55+3A>C
NM_001408489.1:c.-55+3A>C
NM_001408490.1:c.-55+3A>C
NM_001408491.1:c.-55+3A>C
NM_001408492.1:c.-171+3A>C
NM_001408493.1:c.-55+3A>C
NM_001408494.1:c.134+3A>C
NM_001408495.1:c.134+3A>C
NM_001408496.1:c.-8+8294A>C
NM_001408497.1:c.-8+3A>C
NM_001408498.1:c.-8+8294A>C
NM_001408499.1:c.-8+3A>C
NM_001408500.1:c.-8+3A>C
NM_001408501.1:c.-124+3A>C
NM_001408502.1:c.-55+3A>C
NM_001408503.1:c.-8+3A>C
NM_001408504.1:c.-8+3A>C
NM_001408505.1:c.-8+3A>C
NM_001408506.1:c.-55+3A>C
NM_001408507.1:c.-55+3A>C
NM_001408508.1:c.-55+3A>C
NM_001408509.1:c.-55+3A>C
NM_001408510.1:c.-170+3A>C
NM_001408511.1:c.-7-9190A>C
NM_001408512.1:c.-170+3A>C
NM_001408513.1:c.-55+3A>C
NM_001408514.1:c.-55+3A>C
NM_007294.4:c.134+3A>CMANE SELECT
NM_007297.4:c.-8+8294A>C
NM_007298.4:c.134+3A>C
NM_007299.4:c.134+3A>C
NM_007300.4:c.134+3A>C
LRG_292t1:c.134+3A>C
LRG_292:g.102261A>C
NC_000017.10:g.41267740T>G
NM_007294.3:c.134+3A>C
NM_007297.3:c.-8+8294A>C
U14680.1:n.253+3A>C

Links:

Breast Cancer Information Core (BIC) (BRCA1): 253+3&base_change=A to C; dbSNP: rs80358064

NCBI 1000 Genomes Browser:

rs80358064

Molecular consequence:

NM_001407571.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.-128+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5835A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5835A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.-8+7A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.-171+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.-171+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9554A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-170+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-170+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9548A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-286+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9548A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9554A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.-128+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.-171+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-170+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-170+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144418	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Dec 30, 1999)	germline	clinical testing
SCV000325029	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000733681	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001241933	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,
SCV004216863	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 21, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	8	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]

PMID:: 30209399
PMCID:: PMC6181777

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

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144418.1

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325029.4

#	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	unknown	not provided	not provided	not provided		not provided	not provided	8	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733681.1

#	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 Brotman Baty Institute, University of Washington, SCV001241933.1

#	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 Baylor Genetics, SCV004216863.1

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

Last Updated: Nov 3, 2024

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