NM_007294.4(BRCA1):c.671-18_671-16del AND not specified

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Aug 15, 2023
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:: RCV000496682.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.671-18_671-16del]

NM_007294.4(BRCA1):c.671-18_671-16del

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.671-18_671-16del

Other names:

IVS10-18del3

HGVS:

NC_000017.10:g.41246893_41246895del
NC_000017.11:g.43094878_43094880del
NG_005905.2:g.123106_123108del
NM_001407571.1:c.458-18_458-16del
NM_001407581.1:c.671-18_671-16del
NM_001407582.1:c.671-18_671-16del
NM_001407583.1:c.671-18_671-16del
NM_001407585.1:c.671-18_671-16del
NM_001407587.1:c.668-18_668-16del
NM_001407590.1:c.668-18_668-16del
NM_001407591.1:c.668-18_668-16del
NM_001407593.1:c.671-18_671-16del
NM_001407594.1:c.671-18_671-16del
NM_001407596.1:c.671-18_671-16del
NM_001407597.1:c.671-18_671-16del
NM_001407598.1:c.671-18_671-16del
NM_001407602.1:c.671-18_671-16del
NM_001407603.1:c.671-18_671-16del
NM_001407605.1:c.671-18_671-16del
NM_001407610.1:c.668-18_668-16del
NM_001407611.1:c.668-18_668-16del
NM_001407612.1:c.668-18_668-16del
NM_001407613.1:c.668-18_668-16del
NM_001407614.1:c.668-18_668-16del
NM_001407615.1:c.668-18_668-16del
NM_001407616.1:c.671-18_671-16del
NM_001407617.1:c.671-18_671-16del
NM_001407618.1:c.671-18_671-16del
NM_001407619.1:c.671-18_671-16del
NM_001407620.1:c.671-18_671-16del
NM_001407621.1:c.671-18_671-16del
NM_001407622.1:c.671-18_671-16del
NM_001407623.1:c.671-18_671-16del
NM_001407624.1:c.671-18_671-16del
NM_001407625.1:c.671-18_671-16del
NM_001407626.1:c.671-18_671-16del
NM_001407627.1:c.668-18_668-16del
NM_001407628.1:c.668-18_668-16del
NM_001407629.1:c.668-18_668-16del
NM_001407630.1:c.668-18_668-16del
NM_001407631.1:c.668-18_668-16del
NM_001407632.1:c.668-18_668-16del
NM_001407633.1:c.668-18_668-16del
NM_001407634.1:c.668-18_668-16del
NM_001407635.1:c.668-18_668-16del
NM_001407636.1:c.668-18_668-16del
NM_001407637.1:c.668-18_668-16del
NM_001407638.1:c.668-18_668-16del
NM_001407639.1:c.671-18_671-16del
NM_001407640.1:c.671-18_671-16del
NM_001407641.1:c.671-18_671-16del
NM_001407642.1:c.671-18_671-16del
NM_001407644.1:c.668-18_668-16del
NM_001407645.1:c.668-18_668-16del
NM_001407646.1:c.662-18_662-16del
NM_001407647.1:c.662-18_662-16del
NM_001407648.1:c.548-18_548-16del
NM_001407649.1:c.545-18_545-16del
NM_001407652.1:c.671-18_671-16del
NM_001407653.1:c.593-18_593-16del
NM_001407654.1:c.593-18_593-16del
NM_001407655.1:c.593-18_593-16del
NM_001407656.1:c.593-18_593-16del
NM_001407657.1:c.593-18_593-16del
NM_001407658.1:c.593-18_593-16del
NM_001407659.1:c.590-18_590-16del
NM_001407660.1:c.590-18_590-16del
NM_001407661.1:c.590-18_590-16del
NM_001407662.1:c.590-18_590-16del
NM_001407663.1:c.593-18_593-16del
NM_001407664.1:c.548-18_548-16del
NM_001407665.1:c.548-18_548-16del
NM_001407666.1:c.548-18_548-16del
NM_001407667.1:c.548-18_548-16del
NM_001407668.1:c.548-18_548-16del
NM_001407669.1:c.548-18_548-16del
NM_001407670.1:c.545-18_545-16del
NM_001407671.1:c.545-18_545-16del
NM_001407672.1:c.545-18_545-16del
NM_001407673.1:c.545-18_545-16del
NM_001407674.1:c.548-18_548-16del
NM_001407675.1:c.548-18_548-16del
NM_001407676.1:c.548-18_548-16del
NM_001407677.1:c.548-18_548-16del
NM_001407678.1:c.548-18_548-16del
NM_001407679.1:c.548-18_548-16del
NM_001407680.1:c.548-18_548-16del
NM_001407681.1:c.548-18_548-16del
NM_001407682.1:c.548-18_548-16del
NM_001407683.1:c.548-18_548-16del
NM_001407684.1:c.671-18_671-16del
NM_001407685.1:c.545-18_545-16del
NM_001407686.1:c.545-18_545-16del
NM_001407687.1:c.545-18_545-16del
NM_001407688.1:c.545-18_545-16del
NM_001407689.1:c.545-18_545-16del
NM_001407690.1:c.545-18_545-16del
NM_001407691.1:c.545-18_545-16del
NM_001407692.1:c.530-18_530-16del
NM_001407694.1:c.530-18_530-16del
NM_001407695.1:c.530-18_530-16del
NM_001407696.1:c.530-18_530-16del
NM_001407697.1:c.530-18_530-16del
NM_001407698.1:c.530-18_530-16del
NM_001407724.1:c.530-18_530-16del
NM_001407725.1:c.530-18_530-16del
NM_001407726.1:c.530-18_530-16del
NM_001407727.1:c.530-18_530-16del
NM_001407728.1:c.530-18_530-16del
NM_001407729.1:c.530-18_530-16del
NM_001407730.1:c.530-18_530-16del
NM_001407731.1:c.530-18_530-16del
NM_001407732.1:c.530-18_530-16del
NM_001407733.1:c.530-18_530-16del
NM_001407734.1:c.530-18_530-16del
NM_001407735.1:c.530-18_530-16del
NM_001407736.1:c.530-18_530-16del
NM_001407737.1:c.530-18_530-16del
NM_001407738.1:c.530-18_530-16del
NM_001407739.1:c.530-18_530-16del
NM_001407740.1:c.527-18_527-16del
NM_001407741.1:c.527-18_527-16del
NM_001407742.1:c.527-18_527-16del
NM_001407743.1:c.527-18_527-16del
NM_001407744.1:c.527-18_527-16del
NM_001407745.1:c.527-18_527-16del
NM_001407746.1:c.527-18_527-16del
NM_001407747.1:c.527-18_527-16del
NM_001407748.1:c.527-18_527-16del
NM_001407749.1:c.527-18_527-16del
NM_001407750.1:c.530-18_530-16del
NM_001407751.1:c.530-18_530-16del
NM_001407752.1:c.530-18_530-16del
NM_001407838.1:c.527-18_527-16del
NM_001407839.1:c.527-18_527-16del
NM_001407841.1:c.527-18_527-16del
NM_001407842.1:c.527-18_527-16del
NM_001407843.1:c.527-18_527-16del
NM_001407844.1:c.527-18_527-16del
NM_001407845.1:c.527-18_527-16del
NM_001407846.1:c.527-18_527-16del
NM_001407847.1:c.527-18_527-16del
NM_001407848.1:c.527-18_527-16del
NM_001407849.1:c.527-18_527-16del
NM_001407850.1:c.530-18_530-16del
NM_001407851.1:c.530-18_530-16del
NM_001407852.1:c.530-18_530-16del
NM_001407853.1:c.458-18_458-16del
NM_001407854.1:c.671-18_671-16del
NM_001407858.1:c.671-18_671-16del
NM_001407859.1:c.671-18_671-16del
NM_001407860.1:c.668-18_668-16del
NM_001407861.1:c.668-18_668-16del
NM_001407862.1:c.470-18_470-16del
NM_001407863.1:c.548-18_548-16del
NM_001407874.1:c.467-18_467-16del
NM_001407875.1:c.467-18_467-16del
NM_001407879.1:c.461-18_461-16del
NM_001407881.1:c.461-18_461-16del
NM_001407882.1:c.461-18_461-16del
NM_001407884.1:c.461-18_461-16del
NM_001407885.1:c.461-18_461-16del
NM_001407886.1:c.461-18_461-16del
NM_001407887.1:c.461-18_461-16del
NM_001407889.1:c.461-18_461-16del
NM_001407894.1:c.458-18_458-16del
NM_001407895.1:c.458-18_458-16del
NM_001407896.1:c.458-18_458-16del
NM_001407897.1:c.458-18_458-16del
NM_001407898.1:c.458-18_458-16del
NM_001407899.1:c.458-18_458-16del
NM_001407900.1:c.461-18_461-16del
NM_001407902.1:c.461-18_461-16del
NM_001407904.1:c.461-18_461-16del
NM_001407906.1:c.461-18_461-16del
NM_001407907.1:c.461-18_461-16del
NM_001407908.1:c.461-18_461-16del
NM_001407909.1:c.461-18_461-16del
NM_001407910.1:c.461-18_461-16del
NM_001407915.1:c.458-18_458-16del
NM_001407916.1:c.458-18_458-16del
NM_001407917.1:c.458-18_458-16del
NM_001407918.1:c.458-18_458-16del
NM_001407919.1:c.548-18_548-16del
NM_001407920.1:c.407-18_407-16del
NM_001407921.1:c.407-18_407-16del
NM_001407922.1:c.407-18_407-16del
NM_001407923.1:c.407-18_407-16del
NM_001407924.1:c.407-18_407-16del
NM_001407925.1:c.407-18_407-16del
NM_001407926.1:c.407-18_407-16del
NM_001407927.1:c.407-18_407-16del
NM_001407928.1:c.407-18_407-16del
NM_001407929.1:c.407-18_407-16del
NM_001407930.1:c.404-18_404-16del
NM_001407931.1:c.404-18_404-16del
NM_001407932.1:c.404-18_404-16del
NM_001407933.1:c.407-18_407-16del
NM_001407934.1:c.404-18_404-16del
NM_001407935.1:c.407-18_407-16del
NM_001407936.1:c.404-18_404-16del
NM_001407937.1:c.548-18_548-16del
NM_001407938.1:c.548-18_548-16del
NM_001407939.1:c.548-18_548-16del
NM_001407940.1:c.545-18_545-16del
NM_001407941.1:c.545-18_545-16del
NM_001407942.1:c.530-18_530-16del
NM_001407943.1:c.527-18_527-16del
NM_001407944.1:c.530-18_530-16del
NM_001407945.1:c.530-18_530-16del
NM_001407946.1:c.338-18_338-16del
NM_001407947.1:c.338-18_338-16del
NM_001407948.1:c.338-18_338-16del
NM_001407949.1:c.338-18_338-16del
NM_001407950.1:c.338-18_338-16del
NM_001407951.1:c.338-18_338-16del
NM_001407952.1:c.338-18_338-16del
NM_001407953.1:c.338-18_338-16del
NM_001407954.1:c.335-18_335-16del
NM_001407955.1:c.335-18_335-16del
NM_001407956.1:c.335-18_335-16del
NM_001407957.1:c.338-18_338-16del
NM_001407958.1:c.335-18_335-16del
NM_001407959.1:c.290-18_290-16del
NM_001407960.1:c.290-18_290-16del
NM_001407962.1:c.287-18_287-16del
NM_001407963.1:c.290-18_290-16del
NM_001407964.1:c.527-18_527-16del
NM_001407965.1:c.167-18_167-16del
NM_001407966.1:c.-218-18_-218-16del
NM_001407967.1:c.-218-18_-218-16del
NM_001407968.1:c.671-18_671-16del
NM_001407969.1:c.671-18_671-16del
NM_001407970.1:c.671-18_671-16del
NM_001407971.1:c.671-18_671-16del
NM_001407972.1:c.668-18_668-16del
NM_001407973.1:c.671-18_671-16del
NM_001407974.1:c.671-18_671-16del
NM_001407975.1:c.671-18_671-16del
NM_001407976.1:c.671-18_671-16del
NM_001407977.1:c.671-18_671-16del
NM_001407978.1:c.671-18_671-16del
NM_001407979.1:c.671-18_671-16del
NM_001407980.1:c.671-18_671-16del
NM_001407981.1:c.671-18_671-16del
NM_001407982.1:c.671-18_671-16del
NM_001407983.1:c.671-18_671-16del
NM_001407984.1:c.668-18_668-16del
NM_001407985.1:c.668-18_668-16del
NM_001407986.1:c.668-18_668-16del
NM_001407990.1:c.671-18_671-16del
NM_001407991.1:c.668-18_668-16del
NM_001407992.1:c.668-18_668-16del
NM_001407993.1:c.671-18_671-16del
NM_001408392.1:c.668-18_668-16del
NM_001408396.1:c.668-18_668-16del
NM_001408397.1:c.668-18_668-16del
NM_001408398.1:c.668-18_668-16del
NM_001408399.1:c.668-18_668-16del
NM_001408400.1:c.668-18_668-16del
NM_001408401.1:c.668-18_668-16del
NM_001408402.1:c.668-18_668-16del
NM_001408403.1:c.671-18_671-16del
NM_001408404.1:c.671-18_671-16del
NM_001408406.1:c.671-18_671-16del
NM_001408407.1:c.668-18_668-16del
NM_001408408.1:c.662-18_662-16del
NM_001408409.1:c.593-18_593-16del
NM_001408410.1:c.530-18_530-16del
NM_001408411.1:c.593-18_593-16del
NM_001408412.1:c.593-18_593-16del
NM_001408413.1:c.590-18_590-16del
NM_001408414.1:c.593-18_593-16del
NM_001408415.1:c.593-18_593-16del
NM_001408416.1:c.590-18_590-16del
NM_001408418.1:c.670+968_670+970del
NM_001408419.1:c.670+968_670+970del
NM_001408420.1:c.670+968_670+970del
NM_001408421.1:c.667+968_667+970del
NM_001408422.1:c.670+968_670+970del
NM_001408423.1:c.670+968_670+970del
NM_001408424.1:c.667+968_667+970del
NM_001408425.1:c.548-18_548-16del
NM_001408426.1:c.548-18_548-16del
NM_001408427.1:c.548-18_548-16del
NM_001408428.1:c.548-18_548-16del
NM_001408429.1:c.548-18_548-16del
NM_001408430.1:c.548-18_548-16del
NM_001408431.1:c.667+968_667+970del
NM_001408432.1:c.545-18_545-16del
NM_001408433.1:c.545-18_545-16del
NM_001408434.1:c.545-18_545-16del
NM_001408435.1:c.545-18_545-16del
NM_001408436.1:c.548-18_548-16del
NM_001408437.1:c.548-18_548-16del
NM_001408438.1:c.548-18_548-16del
NM_001408439.1:c.548-18_548-16del
NM_001408440.1:c.548-18_548-16del
NM_001408441.1:c.548-18_548-16del
NM_001408442.1:c.548-18_548-16del
NM_001408443.1:c.548-18_548-16del
NM_001408444.1:c.548-18_548-16del
NM_001408445.1:c.545-18_545-16del
NM_001408446.1:c.545-18_545-16del
NM_001408447.1:c.545-18_545-16del
NM_001408448.1:c.545-18_545-16del
NM_001408450.1:c.545-18_545-16del
NM_001408451.1:c.536-18_536-16del
NM_001408452.1:c.530-18_530-16del
NM_001408453.1:c.530-18_530-16del
NM_001408454.1:c.530-18_530-16del
NM_001408455.1:c.530-18_530-16del
NM_001408456.1:c.530-18_530-16del
NM_001408457.1:c.530-18_530-16del
NM_001408458.1:c.530-18_530-16del
NM_001408459.1:c.530-18_530-16del
NM_001408460.1:c.530-18_530-16del
NM_001408461.1:c.530-18_530-16del
NM_001408462.1:c.527-18_527-16del
NM_001408463.1:c.527-18_527-16del
NM_001408464.1:c.527-18_527-16del
NM_001408465.1:c.527-18_527-16del
NM_001408466.1:c.530-18_530-16del
NM_001408467.1:c.530-18_530-16del
NM_001408468.1:c.527-18_527-16del
NM_001408469.1:c.530-18_530-16del
NM_001408470.1:c.527-18_527-16del
NM_001408472.1:c.671-18_671-16del
NM_001408473.1:c.668-18_668-16del
NM_001408474.1:c.470-18_470-16del
NM_001408475.1:c.467-18_467-16del
NM_001408476.1:c.470-18_470-16del
NM_001408478.1:c.461-18_461-16del
NM_001408479.1:c.461-18_461-16del
NM_001408480.1:c.461-18_461-16del
NM_001408481.1:c.461-18_461-16del
NM_001408482.1:c.461-18_461-16del
NM_001408483.1:c.461-18_461-16del
NM_001408484.1:c.461-18_461-16del
NM_001408485.1:c.461-18_461-16del
NM_001408489.1:c.461-18_461-16del
NM_001408490.1:c.458-18_458-16del
NM_001408491.1:c.458-18_458-16del
NM_001408492.1:c.461-18_461-16del
NM_001408493.1:c.458-18_458-16del
NM_001408494.1:c.548-3846_548-3844del
NM_001408495.1:c.545-3846_545-3844del
NM_001408496.1:c.407-18_407-16del
NM_001408497.1:c.407-18_407-16del
NM_001408498.1:c.407-18_407-16del
NM_001408499.1:c.407-18_407-16del
NM_001408500.1:c.407-18_407-16del
NM_001408501.1:c.407-18_407-16del
NM_001408502.1:c.338-18_338-16del
NM_001408503.1:c.404-18_404-16del
NM_001408504.1:c.404-18_404-16del
NM_001408505.1:c.404-18_404-16del
NM_001408506.1:c.460+968_460+970del
NM_001408507.1:c.460+968_460+970del
NM_001408508.1:c.335-18_335-16del
NM_001408509.1:c.335-18_335-16del
NM_001408510.1:c.290-18_290-16del
NM_001408511.1:c.404-3846_404-3844del
NM_001408512.1:c.167-18_167-16del
NM_001408513.1:c.461-18_461-16del
NM_001408514.1:c.461-18_461-16del
NM_007294.4:c.671-18_671-16delMANE SELECT
NM_007297.4:c.530-18_530-16del
NM_007298.4:c.671-18_671-16del
NM_007299.4:c.671-18_671-16del
NM_007300.4:c.671-18_671-16del
LRG_292t1:c.671-18_671-16del
LRG_292:g.123106_123108del
NC_000017.10:g.41246893_41246895del
NC_000017.10:g.41246893_41246895delAAT
NC_000017.10:g.41246895_41246897del
NC_000017.10:g.41246895_41246897del
NM_007294.3:c.671-18_671-16del
NM_007294.3:c.671-18_671-16delATT
NM_007294.4:c.671-18_671-16delATTMANE SELECT
U14680.1:n.790-18_790-16del3

Links:

Breast Cancer Information Core (BIC) (BRCA1): 790-18&base_change=del 3; dbSNP: rs398122354

NCBI 1000 Genomes Browser:

rs398122354

Molecular consequence:

NM_001407571.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.662-18_662-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.662-18_662-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.590-18_590-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.590-18_590-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.590-18_590-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.590-18_590-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.470-18_470-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.467-18_467-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.467-18_467-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.404-18_404-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.404-18_404-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.404-18_404-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.404-18_404-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.404-18_404-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.335-18_335-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.335-18_335-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.335-18_335-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.335-18_335-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.290-18_290-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.290-18_290-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.287-18_287-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.290-18_290-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.167-18_167-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-218-18_-218-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-218-18_-218-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.662-18_662-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.590-18_590-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.593-18_593-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.590-18_590-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+968_670+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+968_670+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+968_670+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+968_667+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+968_670+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+968_670+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+968_667+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+968_667+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.548-18_548-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.545-18_545-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.536-18_536-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.527-18_527-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.668-18_668-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.470-18_470-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.467-18_467-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.470-18_470-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.458-18_458-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3846_548-3844del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3846_545-3844del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.407-18_407-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.338-18_338-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.404-18_404-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.404-18_404-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.404-18_404-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+968_460+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+968_460+970del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.335-18_335-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.335-18_335-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.290-18_290-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3846_404-3844del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.167-18_167-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.461-18_461-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.530-18_530-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.671-18_671-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.671-18_671-16del - 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
SCV000587067	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Uncertain significance (Jan 31, 2014)	germline	research
SCV002571872	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Aug 8, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16267036, 35053526 Citation Link,
SCV002760946	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587067

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Uncertain significance
(Jan 31, 2014)

germline

research

SCV002571872

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Aug 8, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002760946

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Aug 15, 2023)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N.

Cancers (Basel). 2022 Jan 12;14(2). doi:pii: 365. 10.3390/cancers14020365.

PubMed [citation]

PMID:: 35053526
PMCID:: PMC8773795

See all PubMed Citations (3)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587067.1

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

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002571872.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: BRCA1 c.671-18_671-16delATT results in the deletion of three non-conserved nucleotides 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 allele was found at a frequency of 4.5e-06 in 219956 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.671-18_671-16delATT has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome, co-occurring with pathogenic variants (BRCA1 c.4964_4982del19, p.Ser1655TyrfsX16; BARD1 c.772delA, p.Ile258X; BIC database, Judkins_2005, Turchiano_2022). These data provide evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Three laboratories classified the variant as likely benign and one classified it as VUS. Based on the evidence outlined above, the variant was classified as likely 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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002760946.3

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

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine