NM_007294.4(BRCA1):c.4186-10G>A AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Jul 24, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000112287.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.4186-10G>A]

NM_007294.4(BRCA1):c.4186-10G>A

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4186-10G>A

HGVS:

NC_000017.11:g.43082585C>T
NG_005905.2:g.135399G>A
NM_001407571.1:c.3973-10G>A
NM_001407581.1:c.4186-10G>A
NM_001407582.1:c.4186-10G>A
NM_001407583.1:c.4186-10G>A
NM_001407585.1:c.4186-10G>A
NM_001407587.1:c.4183-10G>A
NM_001407590.1:c.4183-10G>A
NM_001407591.1:c.4183-10G>A
NM_001407593.1:c.4186-10G>A
NM_001407594.1:c.4186-10G>A
NM_001407596.1:c.4186-10G>A
NM_001407597.1:c.4186-10G>A
NM_001407598.1:c.4186-10G>A
NM_001407602.1:c.4186-10G>A
NM_001407603.1:c.4186-10G>A
NM_001407605.1:c.4186-10G>A
NM_001407610.1:c.4183-10G>A
NM_001407611.1:c.4183-10G>A
NM_001407612.1:c.4183-10G>A
NM_001407613.1:c.4183-10G>A
NM_001407614.1:c.4183-10G>A
NM_001407615.1:c.4183-10G>A
NM_001407616.1:c.4186-10G>A
NM_001407617.1:c.4186-10G>A
NM_001407618.1:c.4186-10G>A
NM_001407619.1:c.4186-10G>A
NM_001407620.1:c.4186-10G>A
NM_001407621.1:c.4186-10G>A
NM_001407622.1:c.4186-10G>A
NM_001407623.1:c.4186-10G>A
NM_001407624.1:c.4186-13G>A
NM_001407625.1:c.4186-13G>A
NM_001407626.1:c.4186-13G>A
NM_001407627.1:c.4183-13G>A
NM_001407628.1:c.4183-13G>A
NM_001407629.1:c.4183-13G>A
NM_001407630.1:c.4183-13G>A
NM_001407631.1:c.4183-13G>A
NM_001407632.1:c.4183-13G>A
NM_001407633.1:c.4183-10G>A
NM_001407634.1:c.4183-10G>A
NM_001407635.1:c.4183-10G>A
NM_001407636.1:c.4183-10G>A
NM_001407637.1:c.4183-10G>A
NM_001407638.1:c.4183-10G>A
NM_001407639.1:c.4186-13G>A
NM_001407640.1:c.4186-13G>A
NM_001407641.1:c.4186-13G>A
NM_001407642.1:c.4186-13G>A
NM_001407644.1:c.4183-13G>A
NM_001407645.1:c.4183-13G>A
NM_001407646.1:c.4177-13G>A
NM_001407647.1:c.4177-13G>A
NM_001407648.1:c.4063-10G>A
NM_001407649.1:c.4060-10G>A
NM_001407652.1:c.4186-10G>A
NM_001407653.1:c.4108-10G>A
NM_001407654.1:c.4108-10G>A
NM_001407655.1:c.4108-10G>A
NM_001407656.1:c.4108-13G>A
NM_001407657.1:c.4108-10G>A
NM_001407658.1:c.4108-10G>A
NM_001407659.1:c.4105-13G>A
NM_001407660.1:c.4105-13G>A
NM_001407661.1:c.4105-10G>A
NM_001407662.1:c.4105-10G>A
NM_001407663.1:c.4108-13G>A
NM_001407664.1:c.4063-10G>A
NM_001407665.1:c.4063-10G>A
NM_001407666.1:c.4063-10G>A
NM_001407667.1:c.4063-10G>A
NM_001407668.1:c.4063-10G>A
NM_001407669.1:c.4063-10G>A
NM_001407670.1:c.4060-10G>A
NM_001407671.1:c.4060-10G>A
NM_001407672.1:c.4060-10G>A
NM_001407673.1:c.4060-10G>A
NM_001407674.1:c.4063-13G>A
NM_001407675.1:c.4063-13G>A
NM_001407676.1:c.4063-13G>A
NM_001407677.1:c.4063-10G>A
NM_001407678.1:c.4063-10G>A
NM_001407679.1:c.4063-10G>A
NM_001407680.1:c.4063-10G>A
NM_001407681.1:c.4063-13G>A
NM_001407682.1:c.4063-13G>A
NM_001407683.1:c.4063-13G>A
NM_001407684.1:c.4186-10G>A
NM_001407685.1:c.4060-13G>A
NM_001407686.1:c.4060-13G>A
NM_001407687.1:c.4060-13G>A
NM_001407688.1:c.4060-10G>A
NM_001407689.1:c.4060-10G>A
NM_001407690.1:c.4060-13G>A
NM_001407691.1:c.4060-13G>A
NM_001407692.1:c.4045-10G>A
NM_001407694.1:c.4045-10G>A
NM_001407695.1:c.4045-10G>A
NM_001407696.1:c.4045-10G>A
NM_001407697.1:c.4045-10G>A
NM_001407698.1:c.4045-10G>A
NM_001407724.1:c.4045-10G>A
NM_001407725.1:c.4045-10G>A
NM_001407726.1:c.4045-10G>A
NM_001407727.1:c.4045-10G>A
NM_001407728.1:c.4045-10G>A
NM_001407729.1:c.4045-10G>A
NM_001407730.1:c.4045-10G>A
NM_001407731.1:c.4045-10G>A
NM_001407732.1:c.4045-10G>A
NM_001407733.1:c.4045-10G>A
NM_001407734.1:c.4045-10G>A
NM_001407735.1:c.4045-10G>A
NM_001407736.1:c.4045-10G>A
NM_001407737.1:c.4045-10G>A
NM_001407738.1:c.4045-10G>A
NM_001407739.1:c.4045-10G>A
NM_001407740.1:c.4042-10G>A
NM_001407741.1:c.4042-10G>A
NM_001407742.1:c.4042-10G>A
NM_001407743.1:c.4042-10G>A
NM_001407744.1:c.4042-10G>A
NM_001407745.1:c.4042-10G>A
NM_001407746.1:c.4042-10G>A
NM_001407747.1:c.4042-10G>A
NM_001407748.1:c.4042-10G>A
NM_001407749.1:c.4042-10G>A
NM_001407750.1:c.4045-13G>A
NM_001407751.1:c.4045-13G>A
NM_001407752.1:c.4045-13G>A
NM_001407838.1:c.4042-10G>A
NM_001407839.1:c.4042-10G>A
NM_001407841.1:c.4042-10G>A
NM_001407842.1:c.4042-10G>A
NM_001407843.1:c.4042-10G>A
NM_001407844.1:c.4042-10G>A
NM_001407845.1:c.4042-10G>A
NM_001407846.1:c.4042-10G>A
NM_001407847.1:c.4042-13G>A
NM_001407848.1:c.4042-13G>A
NM_001407849.1:c.4042-13G>A
NM_001407850.1:c.4045-13G>A
NM_001407851.1:c.4045-13G>A
NM_001407852.1:c.4045-13G>A
NM_001407853.1:c.3973-10G>A
NM_001407854.1:c.4186-10G>A
NM_001407858.1:c.4186-10G>A
NM_001407859.1:c.4186-10G>A
NM_001407860.1:c.4183-10G>A
NM_001407861.1:c.4183-10G>A
NM_001407862.1:c.3985-10G>A
NM_001407863.1:c.4063-10G>A
NM_001407874.1:c.3982-10G>A
NM_001407875.1:c.3982-10G>A
NM_001407879.1:c.3976-10G>A
NM_001407881.1:c.3976-10G>A
NM_001407882.1:c.3976-10G>A
NM_001407884.1:c.3976-10G>A
NM_001407885.1:c.3976-10G>A
NM_001407886.1:c.3976-10G>A
NM_001407887.1:c.3976-10G>A
NM_001407889.1:c.3976-10G>A
NM_001407894.1:c.3973-10G>A
NM_001407895.1:c.3973-10G>A
NM_001407896.1:c.3973-10G>A
NM_001407897.1:c.3973-10G>A
NM_001407898.1:c.3973-10G>A
NM_001407899.1:c.3973-10G>A
NM_001407900.1:c.3976-10G>A
NM_001407902.1:c.3976-10G>A
NM_001407904.1:c.3976-10G>A
NM_001407906.1:c.3976-10G>A
NM_001407907.1:c.3976-13G>A
NM_001407908.1:c.3976-13G>A
NM_001407909.1:c.3976-13G>A
NM_001407910.1:c.3976-13G>A
NM_001407915.1:c.3973-13G>A
NM_001407916.1:c.3973-10G>A
NM_001407917.1:c.3973-10G>A
NM_001407918.1:c.3973-10G>A
NM_001407919.1:c.4063-10G>A
NM_001407920.1:c.3922-10G>A
NM_001407921.1:c.3922-10G>A
NM_001407922.1:c.3922-10G>A
NM_001407923.1:c.3922-10G>A
NM_001407924.1:c.3922-10G>A
NM_001407925.1:c.3922-10G>A
NM_001407926.1:c.3922-10G>A
NM_001407927.1:c.3922-10G>A
NM_001407928.1:c.3922-10G>A
NM_001407929.1:c.3922-10G>A
NM_001407930.1:c.3919-10G>A
NM_001407931.1:c.3919-10G>A
NM_001407932.1:c.3919-10G>A
NM_001407933.1:c.3922-13G>A
NM_001407934.1:c.3919-13G>A
NM_001407935.1:c.3922-13G>A
NM_001407936.1:c.3919-10G>A
NM_001407937.1:c.4063-10G>A
NM_001407938.1:c.4063-10G>A
NM_001407939.1:c.4063-10G>A
NM_001407940.1:c.4060-10G>A
NM_001407941.1:c.4060-10G>A
NM_001407942.1:c.4045-10G>A
NM_001407943.1:c.4042-10G>A
NM_001407944.1:c.4045-10G>A
NM_001407945.1:c.4045-10G>A
NM_001407946.1:c.3853-10G>A
NM_001407947.1:c.3853-10G>A
NM_001407948.1:c.3853-10G>A
NM_001407949.1:c.3853-10G>A
NM_001407950.1:c.3853-10G>A
NM_001407951.1:c.3853-10G>A
NM_001407952.1:c.3853-13G>A
NM_001407953.1:c.3853-13G>A
NM_001407954.1:c.3850-10G>A
NM_001407955.1:c.3850-10G>A
NM_001407956.1:c.3850-13G>A
NM_001407957.1:c.3853-13G>A
NM_001407958.1:c.3850-10G>A
NM_001407959.1:c.3805-10G>A
NM_001407960.1:c.3805-10G>A
NM_001407962.1:c.3802-10G>A
NM_001407963.1:c.3805-13G>A
NM_001407964.1:c.4042-10G>A
NM_001407965.1:c.3682-13G>A
NM_001407966.1:c.3298-10G>A
NM_001407967.1:c.3298-10G>A
NM_001407968.1:c.1582-10G>A
NM_001407969.1:c.1582-13G>A
NM_001407970.1:c.877-10G>A
NM_001407971.1:c.877-10G>A
NM_001407972.1:c.874-10G>A
NM_001407973.1:c.877-10G>A
NM_001407974.1:c.877-10G>A
NM_001407975.1:c.877-10G>A
NM_001407976.1:c.877-10G>A
NM_001407977.1:c.877-10G>A
NM_001407978.1:c.877-10G>A
NM_001407979.1:c.877-13G>A
NM_001407980.1:c.877-13G>A
NM_001407981.1:c.877-13G>A
NM_001407982.1:c.877-13G>A
NM_001407983.1:c.877-13G>A
NM_001407984.1:c.874-10G>A
NM_001407985.1:c.874-10G>A
NM_001407986.1:c.874-10G>A
NM_001407990.1:c.877-13G>A
NM_001407991.1:c.874-10G>A
NM_001407992.1:c.874-10G>A
NM_001407993.1:c.877-10G>A
NM_001408392.1:c.874-10G>A
NM_001408396.1:c.874-10G>A
NM_001408397.1:c.874-10G>A
NM_001408398.1:c.874-10G>A
NM_001408399.1:c.874-10G>A
NM_001408400.1:c.874-13G>A
NM_001408401.1:c.874-13G>A
NM_001408402.1:c.874-13G>A
NM_001408403.1:c.877-13G>A
NM_001408404.1:c.877-13G>A
NM_001408406.1:c.871-13G>A
NM_001408407.1:c.874-13G>A
NM_001408408.1:c.868-10G>A
NM_001408409.1:c.799-10G>A
NM_001408410.1:c.736-10G>A
NM_001408411.1:c.799-10G>A
NM_001408412.1:c.799-10G>A
NM_001408413.1:c.796-10G>A
NM_001408414.1:c.799-10G>A
NM_001408415.1:c.799-10G>A
NM_001408416.1:c.796-10G>A
NM_001408418.1:c.760-10G>A
NM_001408419.1:c.760-10G>A
NM_001408420.1:c.760-10G>A
NM_001408421.1:c.757-10G>A
NM_001408422.1:c.760-10G>A
NM_001408423.1:c.760-10G>A
NM_001408424.1:c.757-10G>A
NM_001408425.1:c.754-10G>A
NM_001408426.1:c.754-10G>A
NM_001408427.1:c.754-10G>A
NM_001408428.1:c.754-10G>A
NM_001408429.1:c.754-10G>A
NM_001408430.1:c.754-10G>A
NM_001408431.1:c.757-10G>A
NM_001408432.1:c.751-10G>A
NM_001408433.1:c.751-10G>A
NM_001408434.1:c.751-10G>A
NM_001408435.1:c.751-10G>A
NM_001408436.1:c.754-10G>A
NM_001408437.1:c.754-10G>A
NM_001408438.1:c.754-10G>A
NM_001408439.1:c.754-10G>A
NM_001408440.1:c.754-10G>A
NM_001408441.1:c.754-13G>A
NM_001408442.1:c.754-13G>A
NM_001408443.1:c.754-13G>A
NM_001408444.1:c.754-13G>A
NM_001408445.1:c.751-10G>A
NM_001408446.1:c.751-10G>A
NM_001408447.1:c.751-10G>A
NM_001408448.1:c.751-10G>A
NM_001408450.1:c.751-10G>A
NM_001408451.1:c.742-10G>A
NM_001408452.1:c.736-10G>A
NM_001408453.1:c.736-10G>A
NM_001408454.1:c.736-10G>A
NM_001408455.1:c.736-10G>A
NM_001408456.1:c.736-10G>A
NM_001408457.1:c.736-10G>A
NM_001408458.1:c.736-10G>A
NM_001408459.1:c.736-10G>A
NM_001408460.1:c.736-10G>A
NM_001408461.1:c.736-10G>A
NM_001408462.1:c.733-10G>A
NM_001408463.1:c.733-10G>A
NM_001408464.1:c.733-10G>A
NM_001408465.1:c.733-10G>A
NM_001408466.1:c.736-13G>A
NM_001408467.1:c.736-13G>A
NM_001408468.1:c.733-10G>A
NM_001408469.1:c.736-13G>A
NM_001408470.1:c.733-13G>A
NM_001408472.1:c.877-13G>A
NM_001408473.1:c.874-10G>A
NM_001408474.1:c.676-10G>A
NM_001408475.1:c.673-10G>A
NM_001408476.1:c.676-10G>A
NM_001408478.1:c.667-10G>A
NM_001408479.1:c.667-10G>A
NM_001408480.1:c.667-10G>A
NM_001408481.1:c.667-10G>A
NM_001408482.1:c.667-10G>A
NM_001408483.1:c.667-10G>A
NM_001408484.1:c.667-10G>A
NM_001408485.1:c.667-10G>A
NM_001408489.1:c.667-13G>A
NM_001408490.1:c.664-10G>A
NM_001408491.1:c.664-10G>A
NM_001408492.1:c.667-13G>A
NM_001408493.1:c.664-10G>A
NM_001408494.1:c.637-10G>A
NM_001408495.1:c.634-10G>A
NM_001408496.1:c.613-10G>A
NM_001408497.1:c.613-10G>A
NM_001408498.1:c.613-10G>A
NM_001408499.1:c.613-10G>A
NM_001408500.1:c.613-10G>A
NM_001408501.1:c.613-10G>A
NM_001408502.1:c.544-10G>A
NM_001408503.1:c.610-10G>A
NM_001408504.1:c.610-10G>A
NM_001408505.1:c.610-10G>A
NM_001408506.1:c.550-10G>A
NM_001408507.1:c.550-13G>A
NM_001408508.1:c.541-13G>A
NM_001408509.1:c.541-13G>A
NM_001408510.1:c.496-10G>A
NM_001408511.1:c.493-10G>A
NM_001408512.1:c.373-10G>A
NM_001408513.1:c.667-13G>A
NM_001408514.1:c.667-10G>A
NM_007294.4:c.4186-10G>AMANE SELECT
NM_007297.4:c.4045-10G>A
NM_007298.4:c.877-10G>A
NM_007299.4:c.877-10G>A
NM_007300.4:c.4186-10G>A
LRG_292t1:c.4186-10G>A
LRG_292:g.135399G>A
NC_000017.10:g.41234602C>T
NM_007294.3:c.4186-10G>A
NM_007294.4:c.4186-10G>A
U14680.1:n.4305-10G>A

Nucleotide change:

IVS12-10G>A

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4305-10&base_change=G to A; dbSNP: rs80358172

NCBI 1000 Genomes Browser:

rs80358172

Molecular consequence:

NM_001407571.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.4177-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.4177-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.4108-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.4105-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.4105-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.4105-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.4105-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.4108-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.3985-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.3982-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.3982-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.3973-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.3922-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.3919-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.3922-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.3850-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.3805-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.3805-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.3802-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.3805-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.3682-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.3298-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.3298-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.1582-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.1582-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.871-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.868-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.796-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.796-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.742-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.733-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.676-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.673-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.676-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.637-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.634-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.544-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.550-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.550-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.541-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.541-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.496-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.493-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.373-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145019	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000297608	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (Sep 13, 2010)	germline	clinical testing
SCV000785402	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Jul 24, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000145019

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Uncertain significance
(May 29, 2002)

germline

clinical testing

SCV000297608

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Benign
(Sep 13, 2010)

germline

clinical testing

SCV000785402

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely benign
(Jul 24, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Indian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH.

Breast Cancer Res. 2008;10(4):R59. doi: 10.1186/bcr2118. Epub 2008 Jul 16.

PubMed [citation]

PMID:: 18627636
PMCID:: PMC2575532

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145019.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Indian	1	not provided	not provided	clinical testing	not provided
3	Western European, Latin American, Caribbean	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
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

From Sharing Clinical Reports Project (SCRP), SCV000297608.1

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

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA2:5007A>C (E1593D)	1

From Counsyl, SCV000785402.2

#	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 10, 2024

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