NM_007294.4(BRCA1):c.81-11del AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Nov 28, 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:: RCV001818196.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-11del]

NM_007294.4(BRCA1):c.81-11del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.81-11del

HGVS:

NC_000017.11:g.43115790del
NG_005905.2:g.102194del
NM_001407571.1:c.-108-11del
NM_001407581.1:c.81-11del
NM_001407582.1:c.81-11del
NM_001407583.1:c.81-11del
NM_001407585.1:c.81-11del
NM_001407587.1:c.81-11del
NM_001407590.1:c.81-11del
NM_001407591.1:c.81-11del
NM_001407593.1:c.81-11del
NM_001407594.1:c.81-11del
NM_001407596.1:c.81-11del
NM_001407597.1:c.81-11del
NM_001407598.1:c.81-11del
NM_001407602.1:c.81-11del
NM_001407603.1:c.81-11del
NM_001407605.1:c.81-11del
NM_001407610.1:c.81-11del
NM_001407611.1:c.81-11del
NM_001407612.1:c.81-11del
NM_001407613.1:c.81-11del
NM_001407614.1:c.81-11del
NM_001407615.1:c.81-11del
NM_001407616.1:c.81-11del
NM_001407617.1:c.81-11del
NM_001407618.1:c.81-11del
NM_001407619.1:c.81-11del
NM_001407620.1:c.81-11del
NM_001407621.1:c.81-11del
NM_001407622.1:c.81-11del
NM_001407623.1:c.81-11del
NM_001407624.1:c.81-11del
NM_001407625.1:c.81-11del
NM_001407626.1:c.81-11del
NM_001407627.1:c.81-11del
NM_001407628.1:c.81-11del
NM_001407629.1:c.81-11del
NM_001407630.1:c.81-11del
NM_001407631.1:c.81-11del
NM_001407632.1:c.81-11del
NM_001407633.1:c.81-11del
NM_001407634.1:c.81-11del
NM_001407635.1:c.81-11del
NM_001407636.1:c.81-11del
NM_001407637.1:c.81-11del
NM_001407638.1:c.81-11del
NM_001407639.1:c.81-11del
NM_001407640.1:c.81-11del
NM_001407641.1:c.81-11del
NM_001407642.1:c.81-11del
NM_001407644.1:c.81-11del
NM_001407645.1:c.81-11del
NM_001407646.1:c.81-11del
NM_001407647.1:c.81-11del
NM_001407648.1:c.81-11del
NM_001407649.1:c.81-11del
NM_001407652.1:c.81-11del
NM_001407653.1:c.81-11del
NM_001407654.1:c.81-11del
NM_001407655.1:c.81-11del
NM_001407656.1:c.81-11del
NM_001407657.1:c.81-11del
NM_001407658.1:c.81-11del
NM_001407659.1:c.81-11del
NM_001407660.1:c.81-11del
NM_001407661.1:c.81-11del
NM_001407662.1:c.81-11del
NM_001407663.1:c.81-11del
NM_001407664.1:c.81-11del
NM_001407665.1:c.81-11del
NM_001407666.1:c.81-11del
NM_001407667.1:c.81-11del
NM_001407668.1:c.81-11del
NM_001407669.1:c.81-11del
NM_001407670.1:c.81-11del
NM_001407671.1:c.81-11del
NM_001407672.1:c.81-11del
NM_001407673.1:c.81-11del
NM_001407674.1:c.81-11del
NM_001407675.1:c.81-11del
NM_001407676.1:c.81-11del
NM_001407677.1:c.81-11del
NM_001407678.1:c.81-11del
NM_001407679.1:c.81-11del
NM_001407680.1:c.81-11del
NM_001407681.1:c.81-11del
NM_001407682.1:c.81-11del
NM_001407683.1:c.81-11del
NM_001407684.1:c.81-11del
NM_001407685.1:c.81-11del
NM_001407686.1:c.81-11del
NM_001407687.1:c.81-11del
NM_001407688.1:c.81-11del
NM_001407689.1:c.81-11del
NM_001407690.1:c.81-11del
NM_001407691.1:c.81-11del
NM_001407692.1:c.-7-9257del
NM_001407694.1:c.-177-11del
NM_001407695.1:c.-181-11del
NM_001407696.1:c.-177-11del
NM_001407697.1:c.-61-11del
NM_001407698.1:c.-8+8227del
NM_001407724.1:c.-177-11del
NM_001407725.1:c.-61-11del
NM_001407726.1:c.-8+5768del
NM_001407727.1:c.-177-11del
NM_001407728.1:c.-61-11del
NM_001407729.1:c.-61-11del
NM_001407730.1:c.-61-11del
NM_001407731.1:c.-177-11del
NM_001407732.1:c.-8+8227del
NM_001407733.1:c.-177-11del
NM_001407734.1:c.-61-11del
NM_001407735.1:c.-61-11del
NM_001407736.1:c.-8+8227del
NM_001407737.1:c.-61-11del
NM_001407738.1:c.-8+8227del
NM_001407739.1:c.-61-11del
NM_001407740.1:c.-61-11del
NM_001407741.1:c.-61-11del
NM_001407742.1:c.-8+8227del
NM_001407743.1:c.-61-11del
NM_001407744.1:c.-8+8227del
NM_001407745.1:c.-61-11del
NM_001407746.1:c.-177-11del
NM_001407747.1:c.-7-9257del
NM_001407748.1:c.-61-11del
NM_001407749.1:c.-177-11del
NM_001407750.1:c.-8+8227del
NM_001407751.1:c.-8+5768del
NM_001407752.1:c.-61-11del
NM_001407838.1:c.-61-11del
NM_001407839.1:c.-61-11del
NM_001407841.1:c.-57-11del
NM_001407842.1:c.-177-11del
NM_001407843.1:c.-177-11del
NM_001407844.1:c.-61-11del
NM_001407845.1:c.-8+8227del
NM_001407846.1:c.-61-11del
NM_001407847.1:c.-61-11del
NM_001407848.1:c.-61-11del
NM_001407849.1:c.-8+8227del
NM_001407850.1:c.-61-11del
NM_001407851.1:c.-61-11del
NM_001407852.1:c.-8+8227del
NM_001407853.1:c.-108-11del
NM_001407854.1:c.81-11del
NM_001407858.1:c.81-11del
NM_001407859.1:c.81-11del
NM_001407860.1:c.81-11del
NM_001407861.1:c.81-11del
NM_001407862.1:c.81-11del
NM_001407863.1:c.81-11del
NM_001407874.1:c.81-11del
NM_001407875.1:c.81-11del
NM_001407879.1:c.-108-11del
NM_001407881.1:c.-55+8227del
NM_001407882.1:c.-108-11del
NM_001407884.1:c.-108-11del
NM_001407885.1:c.-108-11del
NM_001407886.1:c.-108-11del
NM_001407887.1:c.-108-11del
NM_001407889.1:c.-224-11del
NM_001407894.1:c.-108-11del
NM_001407895.1:c.-108-11del
NM_001407896.1:c.-108-11del
NM_001407897.1:c.-108-11del
NM_001407898.1:c.-55+8227del
NM_001407899.1:c.-108-11del
NM_001407900.1:c.-224-11del
NM_001407902.1:c.-55+8227del
NM_001407904.1:c.-108-11del
NM_001407906.1:c.-108-11del
NM_001407907.1:c.-108-11del
NM_001407908.1:c.-108-11del
NM_001407909.1:c.-108-11del
NM_001407910.1:c.-108-11del
NM_001407915.1:c.-108-11del
NM_001407916.1:c.-108-11del
NM_001407917.1:c.-108-11del
NM_001407918.1:c.-108-11del
NM_001407919.1:c.81-11del
NM_001407920.1:c.-61-11del
NM_001407921.1:c.-61-11del
NM_001407922.1:c.-61-11del
NM_001407923.1:c.-61-11del
NM_001407924.1:c.-8+8227del
NM_001407925.1:c.-8+8227del
NM_001407926.1:c.-61-11del
NM_001407927.1:c.-61-11del
NM_001407928.1:c.-8+8227del
NM_001407929.1:c.-8+8227del
NM_001407930.1:c.-177-11del
NM_001407931.1:c.-7-9257del
NM_001407932.1:c.-8+8227del
NM_001407933.1:c.-61-11del
NM_001407934.1:c.-61-11del
NM_001407935.1:c.-61-11del
NM_001407936.1:c.-8+8227del
NM_001407937.1:c.81-11del
NM_001407938.1:c.81-11del
NM_001407939.1:c.81-11del
NM_001407940.1:c.81-11del
NM_001407941.1:c.81-11del
NM_001407942.1:c.-177-11del
NM_001407943.1:c.-61-11del
NM_001407944.1:c.-61-11del
NM_001407945.1:c.-8+8227del
NM_001407946.1:c.-108-11del
NM_001407947.1:c.-108-11del
NM_001407948.1:c.-108-11del
NM_001407949.1:c.-108-11del
NM_001407950.1:c.-108-11del
NM_001407951.1:c.-108-11del
NM_001407952.1:c.-108-11del
NM_001407953.1:c.-108-11del
NM_001407954.1:c.-108-11del
NM_001407955.1:c.-108-11del
NM_001407956.1:c.-108-11del
NM_001407957.1:c.-108-11del
NM_001407958.1:c.-108-11del
NM_001407959.1:c.-170+9487del
NM_001407960.1:c.-223-11del
NM_001407962.1:c.-223-11del
NM_001407963.1:c.-170+9481del
NM_001407964.1:c.-61-11del
NM_001407965.1:c.-339-11del
NM_001407966.1:c.-219+9481del
NM_001407967.1:c.-219+9487del
NM_001407968.1:c.81-11del
NM_001407969.1:c.81-11del
NM_001407970.1:c.81-11del
NM_001407971.1:c.81-11del
NM_001407972.1:c.81-11del
NM_001407973.1:c.81-11del
NM_001407974.1:c.81-11del
NM_001407975.1:c.81-11del
NM_001407976.1:c.81-11del
NM_001407977.1:c.81-11del
NM_001407978.1:c.81-11del
NM_001407979.1:c.81-11del
NM_001407980.1:c.81-11del
NM_001407981.1:c.81-11del
NM_001407982.1:c.81-11del
NM_001407983.1:c.81-11del
NM_001407984.1:c.81-11del
NM_001407985.1:c.81-11del
NM_001407986.1:c.81-11del
NM_001407990.1:c.81-11del
NM_001407991.1:c.81-11del
NM_001407992.1:c.81-11del
NM_001407993.1:c.81-11del
NM_001408392.1:c.81-11del
NM_001408396.1:c.81-11del
NM_001408397.1:c.81-11del
NM_001408398.1:c.81-11del
NM_001408399.1:c.81-11del
NM_001408400.1:c.81-11del
NM_001408401.1:c.81-11del
NM_001408402.1:c.81-11del
NM_001408403.1:c.81-11del
NM_001408404.1:c.81-11del
NM_001408406.1:c.81-11del
NM_001408407.1:c.81-11del
NM_001408408.1:c.81-11del
NM_001408409.1:c.81-11del
NM_001408410.1:c.-61-11del
NM_001408411.1:c.81-11del
NM_001408412.1:c.81-11del
NM_001408413.1:c.81-11del
NM_001408414.1:c.81-11del
NM_001408415.1:c.81-11del
NM_001408416.1:c.81-11del
NM_001408418.1:c.81-11del
NM_001408419.1:c.81-11del
NM_001408420.1:c.81-11del
NM_001408421.1:c.81-11del
NM_001408422.1:c.81-11del
NM_001408423.1:c.81-11del
NM_001408424.1:c.81-11del
NM_001408425.1:c.81-11del
NM_001408426.1:c.81-11del
NM_001408427.1:c.81-11del
NM_001408428.1:c.81-11del
NM_001408429.1:c.81-11del
NM_001408430.1:c.81-11del
NM_001408431.1:c.81-11del
NM_001408432.1:c.81-11del
NM_001408433.1:c.81-11del
NM_001408434.1:c.81-11del
NM_001408435.1:c.81-11del
NM_001408436.1:c.81-11del
NM_001408437.1:c.81-11del
NM_001408438.1:c.81-11del
NM_001408439.1:c.81-11del
NM_001408440.1:c.81-11del
NM_001408441.1:c.81-11del
NM_001408442.1:c.81-11del
NM_001408443.1:c.81-11del
NM_001408444.1:c.81-11del
NM_001408445.1:c.81-11del
NM_001408446.1:c.81-11del
NM_001408447.1:c.81-11del
NM_001408448.1:c.81-11del
NM_001408450.1:c.81-11del
NM_001408451.1:c.80+8227del
NM_001408452.1:c.-61-11del
NM_001408453.1:c.-61-11del
NM_001408454.1:c.-8+8227del
NM_001408455.1:c.-177-11del
NM_001408456.1:c.-177-11del
NM_001408457.1:c.-7-9257del
NM_001408458.1:c.-61-11del
NM_001408459.1:c.-8+8227del
NM_001408460.1:c.-8+8227del
NM_001408461.1:c.-8+8227del
NM_001408462.1:c.-61-11del
NM_001408463.1:c.-61-11del
NM_001408464.1:c.-8+8227del
NM_001408465.1:c.-181-11del
NM_001408466.1:c.-61-11del
NM_001408467.1:c.-8+8227del
NM_001408468.1:c.-177-11del
NM_001408469.1:c.-61-11del
NM_001408470.1:c.-61-11del
NM_001408472.1:c.81-11del
NM_001408473.1:c.81-11del
NM_001408474.1:c.81-11del
NM_001408475.1:c.81-11del
NM_001408476.1:c.81-11del
NM_001408478.1:c.-108-11del
NM_001408479.1:c.-108-11del
NM_001408480.1:c.-108-11del
NM_001408481.1:c.-108-11del
NM_001408482.1:c.-108-11del
NM_001408483.1:c.-108-11del
NM_001408484.1:c.-108-11del
NM_001408485.1:c.-108-11del
NM_001408489.1:c.-108-11del
NM_001408490.1:c.-108-11del
NM_001408491.1:c.-108-11del
NM_001408492.1:c.-224-11del
NM_001408493.1:c.-108-11del
NM_001408494.1:c.81-11del
NM_001408495.1:c.81-11del
NM_001408496.1:c.-8+8227del
NM_001408497.1:c.-61-11del
NM_001408498.1:c.-8+8227del
NM_001408499.1:c.-61-11del
NM_001408500.1:c.-61-11del
NM_001408501.1:c.-177-11del
NM_001408502.1:c.-108-11del
NM_001408503.1:c.-61-11del
NM_001408504.1:c.-61-11del
NM_001408505.1:c.-61-11del
NM_001408506.1:c.-108-11del
NM_001408507.1:c.-108-11del
NM_001408508.1:c.-108-11del
NM_001408509.1:c.-108-11del
NM_001408510.1:c.-223-11del
NM_001408511.1:c.-7-9257del
NM_001408512.1:c.-223-11del
NM_001408513.1:c.-108-11del
NM_001408514.1:c.-108-11del
NM_007294.4:c.81-11delMANE SELECT
NM_007297.4:c.-8+8227del
NM_007298.4:c.81-11del
NM_007299.4:c.81-11del
NM_007300.4:c.81-11del
LRG_292t1:c.81-11del
LRG_292:g.102194del
NC_000017.10:g.41267807del
NC_000017.10:g.41267807delA
NM_007294.3:c.81-11del
NM_007294.3:c.81-11delT
U14680.1:n.200-11delT

Nucleotide change:

IVS2-11delT

Links:

BRCA1-HCI: BRCA1_00132; Breast Cancer Information Core (BIC) (BRCA1): 200-11&base_change=del T; dbSNP: rs273902788

NCBI 1000 Genomes Browser:

rs273902788

Molecular consequence:

NM_001407571.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.-7-9257del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.-181-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5768del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9257del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5768del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.-57-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.-224-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.-224-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9257del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9487del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-223-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-223-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9481del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-339-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9481del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9487del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9257del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.-181-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.-224-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.-177-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.-61-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-223-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9257del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-223-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.-108-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8227del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.81-11del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000699305	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Nov 28, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16267036, 21990134, 17924331, 21735045, 23893897 Citation Link,
SCV002070092	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 24, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002774146	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Sep 1, 2021)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 17924331, 16267036, 23893897, 21735045, 27616075, 21990134, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000699305

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Nov 28, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV002070092

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 24, 2020)

germline

clinical testing

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

SCV002774146

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(Sep 1, 2021)

unknown

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

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
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]

PMID:: 17924331
PMCID:: PMC2265654

See all PubMed Citations (8)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699305.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

Variant summary: BRCA1 c.81-11delT 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. Several computational tools predict a significant impact on normal splicing: One predict the variant abolishes the canonical 3' splicing acceptor site. Three predict the variant no significant impact on splicing. An in vitro assay using RNA from the individual(s) carrying this variant shows that the variant had no effect on splicing (example, Menendez_2011). The variant allele was found at a frequency of 3.6e-05 in 248152 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.81-11delT has been reported in the literature in individuals affected with Breast and/or Ovarian Cancer without a strong evidence of causality (example, Judkins_2005, Easton_2007, Menendez_2012). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At-least one co-occurrence with another pathogenic variant has been reported in the UMD database (BRCA2 c.9117+2T>C), providing supporting evidence for a benign role. Multifactorial probability models also support a neutral outcome (example, Lindor_2012). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as 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

From Genetic Services Laboratory, University of Chicago, SCV002070092.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774146.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

#	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: Oct 8, 2024

ClinVar

Relating variation to medicine