NM_007294.4(BRCA1):c.134+16T>A AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2020
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:: RCV001260376.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.134+16T>A]

NM_007294.4(BRCA1):c.134+16T>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.134+16T>A

HGVS:

NC_000017.11:g.43115710A>T
NG_005905.2:g.102274T>A
NM_001407571.1:c.-55+16T>A
NM_001407581.1:c.134+16T>A
NM_001407582.1:c.134+16T>A
NM_001407583.1:c.134+16T>A
NM_001407585.1:c.134+16T>A
NM_001407587.1:c.134+16T>A
NM_001407590.1:c.134+16T>A
NM_001407591.1:c.134+16T>A
NM_001407593.1:c.134+16T>A
NM_001407594.1:c.134+16T>A
NM_001407596.1:c.134+16T>A
NM_001407597.1:c.134+16T>A
NM_001407598.1:c.134+16T>A
NM_001407602.1:c.134+16T>A
NM_001407603.1:c.134+16T>A
NM_001407605.1:c.134+16T>A
NM_001407610.1:c.134+16T>A
NM_001407611.1:c.134+16T>A
NM_001407612.1:c.134+16T>A
NM_001407613.1:c.134+16T>A
NM_001407614.1:c.134+16T>A
NM_001407615.1:c.134+16T>A
NM_001407616.1:c.134+16T>A
NM_001407617.1:c.134+16T>A
NM_001407618.1:c.134+16T>A
NM_001407619.1:c.134+16T>A
NM_001407620.1:c.134+16T>A
NM_001407621.1:c.134+16T>A
NM_001407622.1:c.134+16T>A
NM_001407623.1:c.134+16T>A
NM_001407624.1:c.134+16T>A
NM_001407625.1:c.134+16T>A
NM_001407626.1:c.134+16T>A
NM_001407627.1:c.134+16T>A
NM_001407628.1:c.134+16T>A
NM_001407629.1:c.134+16T>A
NM_001407630.1:c.134+16T>A
NM_001407631.1:c.134+16T>A
NM_001407632.1:c.134+16T>A
NM_001407633.1:c.134+16T>A
NM_001407634.1:c.134+16T>A
NM_001407635.1:c.134+16T>A
NM_001407636.1:c.134+16T>A
NM_001407637.1:c.134+16T>A
NM_001407638.1:c.134+16T>A
NM_001407639.1:c.134+16T>A
NM_001407640.1:c.134+16T>A
NM_001407641.1:c.134+16T>A
NM_001407642.1:c.134+16T>A
NM_001407644.1:c.134+16T>A
NM_001407645.1:c.134+16T>A
NM_001407646.1:c.134+16T>A
NM_001407647.1:c.134+16T>A
NM_001407648.1:c.134+16T>A
NM_001407649.1:c.134+16T>A
NM_001407652.1:c.134+16T>A
NM_001407653.1:c.134+16T>A
NM_001407654.1:c.134+16T>A
NM_001407655.1:c.134+16T>A
NM_001407656.1:c.134+16T>A
NM_001407657.1:c.134+16T>A
NM_001407658.1:c.134+16T>A
NM_001407659.1:c.134+16T>A
NM_001407660.1:c.134+16T>A
NM_001407661.1:c.134+16T>A
NM_001407662.1:c.134+16T>A
NM_001407663.1:c.134+16T>A
NM_001407664.1:c.134+16T>A
NM_001407665.1:c.134+16T>A
NM_001407666.1:c.134+16T>A
NM_001407667.1:c.134+16T>A
NM_001407668.1:c.134+16T>A
NM_001407669.1:c.134+16T>A
NM_001407670.1:c.134+16T>A
NM_001407671.1:c.134+16T>A
NM_001407672.1:c.134+16T>A
NM_001407673.1:c.134+16T>A
NM_001407674.1:c.134+16T>A
NM_001407675.1:c.134+16T>A
NM_001407676.1:c.134+16T>A
NM_001407677.1:c.134+16T>A
NM_001407678.1:c.134+16T>A
NM_001407679.1:c.134+16T>A
NM_001407680.1:c.134+16T>A
NM_001407681.1:c.134+16T>A
NM_001407682.1:c.134+16T>A
NM_001407683.1:c.134+16T>A
NM_001407684.1:c.134+16T>A
NM_001407685.1:c.134+16T>A
NM_001407686.1:c.134+16T>A
NM_001407687.1:c.134+16T>A
NM_001407688.1:c.134+16T>A
NM_001407689.1:c.134+16T>A
NM_001407690.1:c.134+16T>A
NM_001407691.1:c.134+16T>A
NM_001407692.1:c.-7-9177T>A
NM_001407694.1:c.-124+16T>A
NM_001407695.1:c.-128+16T>A
NM_001407696.1:c.-124+16T>A
NM_001407697.1:c.-8+16T>A
NM_001407698.1:c.-8+8307T>A
NM_001407724.1:c.-124+16T>A
NM_001407725.1:c.-8+16T>A
NM_001407726.1:c.-8+5848T>A
NM_001407727.1:c.-124+16T>A
NM_001407728.1:c.-8+16T>A
NM_001407729.1:c.-8+16T>A
NM_001407730.1:c.-8+16T>A
NM_001407731.1:c.-124+16T>A
NM_001407732.1:c.-8+8307T>A
NM_001407733.1:c.-124+16T>A
NM_001407734.1:c.-8+16T>A
NM_001407735.1:c.-8+16T>A
NM_001407736.1:c.-8+8307T>A
NM_001407737.1:c.-8+16T>A
NM_001407738.1:c.-8+8307T>A
NM_001407739.1:c.-8+16T>A
NM_001407740.1:c.-8+16T>A
NM_001407741.1:c.-8+16T>A
NM_001407742.1:c.-8+8307T>A
NM_001407743.1:c.-8+16T>A
NM_001407744.1:c.-8+8307T>A
NM_001407745.1:c.-8+16T>A
NM_001407746.1:c.-124+16T>A
NM_001407747.1:c.-7-9177T>A
NM_001407748.1:c.-8+16T>A
NM_001407749.1:c.-124+16T>A
NM_001407750.1:c.-8+8307T>A
NM_001407751.1:c.-8+5848T>A
NM_001407752.1:c.-8+16T>A
NM_001407838.1:c.-8+16T>A
NM_001407839.1:c.-8+16T>A
NM_001407841.1:c.-8+20T>A
NM_001407842.1:c.-124+16T>A
NM_001407843.1:c.-124+16T>A
NM_001407844.1:c.-8+16T>A
NM_001407845.1:c.-8+8307T>A
NM_001407846.1:c.-8+16T>A
NM_001407847.1:c.-8+16T>A
NM_001407848.1:c.-8+16T>A
NM_001407849.1:c.-8+8307T>A
NM_001407850.1:c.-8+16T>A
NM_001407851.1:c.-8+16T>A
NM_001407852.1:c.-8+8307T>A
NM_001407853.1:c.-55+16T>A
NM_001407854.1:c.134+16T>A
NM_001407858.1:c.134+16T>A
NM_001407859.1:c.134+16T>A
NM_001407860.1:c.134+16T>A
NM_001407861.1:c.134+16T>A
NM_001407862.1:c.134+16T>A
NM_001407863.1:c.134+16T>A
NM_001407874.1:c.134+16T>A
NM_001407875.1:c.134+16T>A
NM_001407879.1:c.-55+16T>A
NM_001407881.1:c.-55+8307T>A
NM_001407882.1:c.-55+16T>A
NM_001407884.1:c.-55+16T>A
NM_001407885.1:c.-55+16T>A
NM_001407886.1:c.-55+16T>A
NM_001407887.1:c.-55+16T>A
NM_001407889.1:c.-171+16T>A
NM_001407894.1:c.-55+16T>A
NM_001407895.1:c.-55+16T>A
NM_001407896.1:c.-55+16T>A
NM_001407897.1:c.-55+16T>A
NM_001407898.1:c.-55+8307T>A
NM_001407899.1:c.-55+16T>A
NM_001407900.1:c.-171+16T>A
NM_001407902.1:c.-55+8307T>A
NM_001407904.1:c.-55+16T>A
NM_001407906.1:c.-55+16T>A
NM_001407907.1:c.-55+16T>A
NM_001407908.1:c.-55+16T>A
NM_001407909.1:c.-55+16T>A
NM_001407910.1:c.-55+16T>A
NM_001407915.1:c.-55+16T>A
NM_001407916.1:c.-55+16T>A
NM_001407917.1:c.-55+16T>A
NM_001407918.1:c.-55+16T>A
NM_001407919.1:c.134+16T>A
NM_001407920.1:c.-8+16T>A
NM_001407921.1:c.-8+16T>A
NM_001407922.1:c.-8+16T>A
NM_001407923.1:c.-8+16T>A
NM_001407924.1:c.-8+8307T>A
NM_001407925.1:c.-8+8307T>A
NM_001407926.1:c.-8+16T>A
NM_001407927.1:c.-8+16T>A
NM_001407928.1:c.-8+8307T>A
NM_001407929.1:c.-8+8307T>A
NM_001407930.1:c.-124+16T>A
NM_001407931.1:c.-7-9177T>A
NM_001407932.1:c.-8+8307T>A
NM_001407933.1:c.-8+16T>A
NM_001407934.1:c.-8+16T>A
NM_001407935.1:c.-8+16T>A
NM_001407936.1:c.-8+8307T>A
NM_001407937.1:c.134+16T>A
NM_001407938.1:c.134+16T>A
NM_001407939.1:c.134+16T>A
NM_001407940.1:c.134+16T>A
NM_001407941.1:c.134+16T>A
NM_001407942.1:c.-124+16T>A
NM_001407943.1:c.-8+16T>A
NM_001407944.1:c.-8+16T>A
NM_001407945.1:c.-8+8307T>A
NM_001407946.1:c.-55+16T>A
NM_001407947.1:c.-55+16T>A
NM_001407948.1:c.-55+16T>A
NM_001407949.1:c.-55+16T>A
NM_001407950.1:c.-55+16T>A
NM_001407951.1:c.-55+16T>A
NM_001407952.1:c.-55+16T>A
NM_001407953.1:c.-55+16T>A
NM_001407954.1:c.-55+16T>A
NM_001407955.1:c.-55+16T>A
NM_001407956.1:c.-55+16T>A
NM_001407957.1:c.-55+16T>A
NM_001407958.1:c.-55+16T>A
NM_001407959.1:c.-170+9567T>A
NM_001407960.1:c.-170+16T>A
NM_001407962.1:c.-170+16T>A
NM_001407963.1:c.-170+9561T>A
NM_001407964.1:c.-8+16T>A
NM_001407965.1:c.-286+16T>A
NM_001407966.1:c.-219+9561T>A
NM_001407967.1:c.-219+9567T>A
NM_001407968.1:c.134+16T>A
NM_001407969.1:c.134+16T>A
NM_001407970.1:c.134+16T>A
NM_001407971.1:c.134+16T>A
NM_001407972.1:c.134+16T>A
NM_001407973.1:c.134+16T>A
NM_001407974.1:c.134+16T>A
NM_001407975.1:c.134+16T>A
NM_001407976.1:c.134+16T>A
NM_001407977.1:c.134+16T>A
NM_001407978.1:c.134+16T>A
NM_001407979.1:c.134+16T>A
NM_001407980.1:c.134+16T>A
NM_001407981.1:c.134+16T>A
NM_001407982.1:c.134+16T>A
NM_001407983.1:c.134+16T>A
NM_001407984.1:c.134+16T>A
NM_001407985.1:c.134+16T>A
NM_001407986.1:c.134+16T>A
NM_001407990.1:c.134+16T>A
NM_001407991.1:c.134+16T>A
NM_001407992.1:c.134+16T>A
NM_001407993.1:c.134+16T>A
NM_001408392.1:c.134+16T>A
NM_001408396.1:c.134+16T>A
NM_001408397.1:c.134+16T>A
NM_001408398.1:c.134+16T>A
NM_001408399.1:c.134+16T>A
NM_001408400.1:c.134+16T>A
NM_001408401.1:c.134+16T>A
NM_001408402.1:c.134+16T>A
NM_001408403.1:c.134+16T>A
NM_001408404.1:c.134+16T>A
NM_001408406.1:c.134+16T>A
NM_001408407.1:c.134+16T>A
NM_001408408.1:c.134+16T>A
NM_001408409.1:c.134+16T>A
NM_001408410.1:c.-8+16T>A
NM_001408411.1:c.134+16T>A
NM_001408412.1:c.134+16T>A
NM_001408413.1:c.134+16T>A
NM_001408414.1:c.134+16T>A
NM_001408415.1:c.134+16T>A
NM_001408416.1:c.134+16T>A
NM_001408418.1:c.134+16T>A
NM_001408419.1:c.134+16T>A
NM_001408420.1:c.134+16T>A
NM_001408421.1:c.134+16T>A
NM_001408422.1:c.134+16T>A
NM_001408423.1:c.134+16T>A
NM_001408424.1:c.134+16T>A
NM_001408425.1:c.134+16T>A
NM_001408426.1:c.134+16T>A
NM_001408427.1:c.134+16T>A
NM_001408428.1:c.134+16T>A
NM_001408429.1:c.134+16T>A
NM_001408430.1:c.134+16T>A
NM_001408431.1:c.134+16T>A
NM_001408432.1:c.134+16T>A
NM_001408433.1:c.134+16T>A
NM_001408434.1:c.134+16T>A
NM_001408435.1:c.134+16T>A
NM_001408436.1:c.134+16T>A
NM_001408437.1:c.134+16T>A
NM_001408438.1:c.134+16T>A
NM_001408439.1:c.134+16T>A
NM_001408440.1:c.134+16T>A
NM_001408441.1:c.134+16T>A
NM_001408442.1:c.134+16T>A
NM_001408443.1:c.134+16T>A
NM_001408444.1:c.134+16T>A
NM_001408445.1:c.134+16T>A
NM_001408446.1:c.134+16T>A
NM_001408447.1:c.134+16T>A
NM_001408448.1:c.134+16T>A
NM_001408450.1:c.134+16T>A
NM_001408451.1:c.80+8307T>A
NM_001408452.1:c.-8+16T>A
NM_001408453.1:c.-8+16T>A
NM_001408454.1:c.-8+8307T>A
NM_001408455.1:c.-124+16T>A
NM_001408456.1:c.-124+16T>A
NM_001408457.1:c.-7-9177T>A
NM_001408458.1:c.-8+16T>A
NM_001408459.1:c.-8+8307T>A
NM_001408460.1:c.-8+8307T>A
NM_001408461.1:c.-8+8307T>A
NM_001408462.1:c.-8+16T>A
NM_001408463.1:c.-8+16T>A
NM_001408464.1:c.-8+8307T>A
NM_001408465.1:c.-128+16T>A
NM_001408466.1:c.-8+16T>A
NM_001408467.1:c.-8+8307T>A
NM_001408468.1:c.-124+16T>A
NM_001408469.1:c.-8+16T>A
NM_001408470.1:c.-8+16T>A
NM_001408472.1:c.134+16T>A
NM_001408473.1:c.134+16T>A
NM_001408474.1:c.134+16T>A
NM_001408475.1:c.134+16T>A
NM_001408476.1:c.134+16T>A
NM_001408478.1:c.-55+16T>A
NM_001408479.1:c.-55+16T>A
NM_001408480.1:c.-55+16T>A
NM_001408481.1:c.-55+16T>A
NM_001408482.1:c.-55+16T>A
NM_001408483.1:c.-55+16T>A
NM_001408484.1:c.-55+16T>A
NM_001408485.1:c.-55+16T>A
NM_001408489.1:c.-55+16T>A
NM_001408490.1:c.-55+16T>A
NM_001408491.1:c.-55+16T>A
NM_001408492.1:c.-171+16T>A
NM_001408493.1:c.-55+16T>A
NM_001408494.1:c.134+16T>A
NM_001408495.1:c.134+16T>A
NM_001408496.1:c.-8+8307T>A
NM_001408497.1:c.-8+16T>A
NM_001408498.1:c.-8+8307T>A
NM_001408499.1:c.-8+16T>A
NM_001408500.1:c.-8+16T>A
NM_001408501.1:c.-124+16T>A
NM_001408502.1:c.-55+16T>A
NM_001408503.1:c.-8+16T>A
NM_001408504.1:c.-8+16T>A
NM_001408505.1:c.-8+16T>A
NM_001408506.1:c.-55+16T>A
NM_001408507.1:c.-55+16T>A
NM_001408508.1:c.-55+16T>A
NM_001408509.1:c.-55+16T>A
NM_001408510.1:c.-170+16T>A
NM_001408511.1:c.-7-9177T>A
NM_001408512.1:c.-170+16T>A
NM_001408513.1:c.-55+16T>A
NM_001408514.1:c.-55+16T>A
NM_007294.4:c.134+16T>AMANE SELECT
NM_007297.4:c.-8+8307T>A
NM_007298.4:c.134+16T>A
NM_007299.4:c.134+16T>A
NM_007300.4:c.134+16T>A
LRG_292t1:c.134+16T>A
LRG_292:g.102274T>A
NC_000017.10:g.41267727A>T
NM_007294.3:c.134+16T>A

Links:

dbSNP: rs2055238665

NCBI 1000 Genomes Browser:

rs2055238665

Molecular consequence:

NM_001407571.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.-7-9177T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.-128+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5848T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9177T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5848T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.-8+20T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.-171+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.-171+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9177T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9567T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-170+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-170+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9561T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-286+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9561T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9567T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9177T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.-128+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.-171+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.-124+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.-8+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-170+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9177T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-170+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.-55+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8307T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.134+16T>A - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

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

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001437335	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 14, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001437335

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 14, 2020)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001437335.1

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

Description

Variant summary: BRCA1 c.134+16T>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 249290 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.134+16T>A in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome has been reported. At least one invitro study reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant (Findlay_2018). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine