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NM_007294.4(BRCA1):c.671-18_671-16del AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:
Nov 20, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000112765.15

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]
Observations:
4

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145657Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV000488827Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jun 24, 2016) 		unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001140627Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link,

SCV004832132All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Nov 20, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot provided108544not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145657.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000488827.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001140627.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004832132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided3not providednot providednot provided

Last Updated: Oct 26, 2024