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NM_007294.4(BRCA1):c.114G>T (p.Lys38Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000588216.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.114G>T (p.Lys38Asn)]

NM_007294.4(BRCA1):c.114G>T (p.Lys38Asn)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.114G>T (p.Lys38Asn)
HGVS:
  • NC_000017.11:g.43115746C>A
  • NG_005905.2:g.102238G>T
  • NM_001407571.1:c.-75G>T
  • NM_001407581.1:c.114G>T
  • NM_001407582.1:c.114G>T
  • NM_001407583.1:c.114G>T
  • NM_001407585.1:c.114G>T
  • NM_001407587.1:c.114G>T
  • NM_001407590.1:c.114G>T
  • NM_001407591.1:c.114G>T
  • NM_001407593.1:c.114G>T
  • NM_001407594.1:c.114G>T
  • NM_001407596.1:c.114G>T
  • NM_001407597.1:c.114G>T
  • NM_001407598.1:c.114G>T
  • NM_001407602.1:c.114G>T
  • NM_001407603.1:c.114G>T
  • NM_001407605.1:c.114G>T
  • NM_001407610.1:c.114G>T
  • NM_001407611.1:c.114G>T
  • NM_001407612.1:c.114G>T
  • NM_001407613.1:c.114G>T
  • NM_001407614.1:c.114G>T
  • NM_001407615.1:c.114G>T
  • NM_001407616.1:c.114G>T
  • NM_001407617.1:c.114G>T
  • NM_001407618.1:c.114G>T
  • NM_001407619.1:c.114G>T
  • NM_001407620.1:c.114G>T
  • NM_001407621.1:c.114G>T
  • NM_001407622.1:c.114G>T
  • NM_001407623.1:c.114G>T
  • NM_001407624.1:c.114G>T
  • NM_001407625.1:c.114G>T
  • NM_001407626.1:c.114G>T
  • NM_001407627.1:c.114G>T
  • NM_001407628.1:c.114G>T
  • NM_001407629.1:c.114G>T
  • NM_001407630.1:c.114G>T
  • NM_001407631.1:c.114G>T
  • NM_001407632.1:c.114G>T
  • NM_001407633.1:c.114G>T
  • NM_001407634.1:c.114G>T
  • NM_001407635.1:c.114G>T
  • NM_001407636.1:c.114G>T
  • NM_001407637.1:c.114G>T
  • NM_001407638.1:c.114G>T
  • NM_001407639.1:c.114G>T
  • NM_001407640.1:c.114G>T
  • NM_001407641.1:c.114G>T
  • NM_001407642.1:c.114G>T
  • NM_001407644.1:c.114G>T
  • NM_001407645.1:c.114G>T
  • NM_001407646.1:c.114G>T
  • NM_001407647.1:c.114G>T
  • NM_001407648.1:c.114G>T
  • NM_001407649.1:c.114G>T
  • NM_001407652.1:c.114G>T
  • NM_001407653.1:c.114G>T
  • NM_001407654.1:c.114G>T
  • NM_001407655.1:c.114G>T
  • NM_001407656.1:c.114G>T
  • NM_001407657.1:c.114G>T
  • NM_001407658.1:c.114G>T
  • NM_001407659.1:c.114G>T
  • NM_001407660.1:c.114G>T
  • NM_001407661.1:c.114G>T
  • NM_001407662.1:c.114G>T
  • NM_001407663.1:c.114G>T
  • NM_001407664.1:c.114G>T
  • NM_001407665.1:c.114G>T
  • NM_001407666.1:c.114G>T
  • NM_001407667.1:c.114G>T
  • NM_001407668.1:c.114G>T
  • NM_001407669.1:c.114G>T
  • NM_001407670.1:c.114G>T
  • NM_001407671.1:c.114G>T
  • NM_001407672.1:c.114G>T
  • NM_001407673.1:c.114G>T
  • NM_001407674.1:c.114G>T
  • NM_001407675.1:c.114G>T
  • NM_001407676.1:c.114G>T
  • NM_001407677.1:c.114G>T
  • NM_001407678.1:c.114G>T
  • NM_001407679.1:c.114G>T
  • NM_001407680.1:c.114G>T
  • NM_001407681.1:c.114G>T
  • NM_001407682.1:c.114G>T
  • NM_001407683.1:c.114G>T
  • NM_001407684.1:c.114G>T
  • NM_001407685.1:c.114G>T
  • NM_001407686.1:c.114G>T
  • NM_001407687.1:c.114G>T
  • NM_001407688.1:c.114G>T
  • NM_001407689.1:c.114G>T
  • NM_001407690.1:c.114G>T
  • NM_001407691.1:c.114G>T
  • NM_001407694.1:c.-144G>T
  • NM_001407695.1:c.-148G>T
  • NM_001407696.1:c.-144G>T
  • NM_001407697.1:c.-28G>T
  • NM_001407724.1:c.-144G>T
  • NM_001407725.1:c.-28G>T
  • NM_001407727.1:c.-144G>T
  • NM_001407728.1:c.-28G>T
  • NM_001407729.1:c.-28G>T
  • NM_001407730.1:c.-28G>T
  • NM_001407731.1:c.-144G>T
  • NM_001407733.1:c.-144G>T
  • NM_001407734.1:c.-28G>T
  • NM_001407735.1:c.-28G>T
  • NM_001407737.1:c.-28G>T
  • NM_001407739.1:c.-28G>T
  • NM_001407740.1:c.-28G>T
  • NM_001407741.1:c.-28G>T
  • NM_001407743.1:c.-28G>T
  • NM_001407745.1:c.-28G>T
  • NM_001407746.1:c.-144G>T
  • NM_001407748.1:c.-28G>T
  • NM_001407749.1:c.-144G>T
  • NM_001407752.1:c.-28G>T
  • NM_001407838.1:c.-28G>T
  • NM_001407839.1:c.-28G>T
  • NM_001407841.1:c.-24G>T
  • NM_001407842.1:c.-144G>T
  • NM_001407843.1:c.-144G>T
  • NM_001407844.1:c.-28G>T
  • NM_001407846.1:c.-28G>T
  • NM_001407847.1:c.-28G>T
  • NM_001407848.1:c.-28G>T
  • NM_001407850.1:c.-28G>T
  • NM_001407851.1:c.-28G>T
  • NM_001407853.1:c.-75G>T
  • NM_001407854.1:c.114G>T
  • NM_001407858.1:c.114G>T
  • NM_001407859.1:c.114G>T
  • NM_001407860.1:c.114G>T
  • NM_001407861.1:c.114G>T
  • NM_001407862.1:c.114G>T
  • NM_001407863.1:c.114G>T
  • NM_001407874.1:c.114G>T
  • NM_001407875.1:c.114G>T
  • NM_001407879.1:c.-75G>T
  • NM_001407882.1:c.-75G>T
  • NM_001407884.1:c.-75G>T
  • NM_001407885.1:c.-75G>T
  • NM_001407886.1:c.-75G>T
  • NM_001407887.1:c.-75G>T
  • NM_001407889.1:c.-191G>T
  • NM_001407894.1:c.-75G>T
  • NM_001407895.1:c.-75G>T
  • NM_001407896.1:c.-75G>T
  • NM_001407897.1:c.-75G>T
  • NM_001407899.1:c.-75G>T
  • NM_001407900.1:c.-191G>T
  • NM_001407904.1:c.-75G>T
  • NM_001407906.1:c.-75G>T
  • NM_001407907.1:c.-75G>T
  • NM_001407908.1:c.-75G>T
  • NM_001407909.1:c.-75G>T
  • NM_001407910.1:c.-75G>T
  • NM_001407915.1:c.-75G>T
  • NM_001407916.1:c.-75G>T
  • NM_001407917.1:c.-75G>T
  • NM_001407918.1:c.-75G>T
  • NM_001407919.1:c.114G>T
  • NM_001407920.1:c.-28G>T
  • NM_001407921.1:c.-28G>T
  • NM_001407922.1:c.-28G>T
  • NM_001407923.1:c.-28G>T
  • NM_001407926.1:c.-28G>T
  • NM_001407927.1:c.-28G>T
  • NM_001407930.1:c.-144G>T
  • NM_001407933.1:c.-28G>T
  • NM_001407934.1:c.-28G>T
  • NM_001407935.1:c.-28G>T
  • NM_001407937.1:c.114G>T
  • NM_001407938.1:c.114G>T
  • NM_001407939.1:c.114G>T
  • NM_001407940.1:c.114G>T
  • NM_001407941.1:c.114G>T
  • NM_001407942.1:c.-144G>T
  • NM_001407943.1:c.-28G>T
  • NM_001407944.1:c.-28G>T
  • NM_001407946.1:c.-75G>T
  • NM_001407947.1:c.-75G>T
  • NM_001407948.1:c.-75G>T
  • NM_001407949.1:c.-75G>T
  • NM_001407950.1:c.-75G>T
  • NM_001407951.1:c.-75G>T
  • NM_001407952.1:c.-75G>T
  • NM_001407953.1:c.-75G>T
  • NM_001407954.1:c.-75G>T
  • NM_001407955.1:c.-75G>T
  • NM_001407956.1:c.-75G>T
  • NM_001407957.1:c.-75G>T
  • NM_001407958.1:c.-75G>T
  • NM_001407960.1:c.-190G>T
  • NM_001407962.1:c.-190G>T
  • NM_001407964.1:c.-28G>T
  • NM_001407965.1:c.-306G>T
  • NM_001407968.1:c.114G>T
  • NM_001407969.1:c.114G>T
  • NM_001407970.1:c.114G>T
  • NM_001407971.1:c.114G>T
  • NM_001407972.1:c.114G>T
  • NM_001407973.1:c.114G>T
  • NM_001407974.1:c.114G>T
  • NM_001407975.1:c.114G>T
  • NM_001407976.1:c.114G>T
  • NM_001407977.1:c.114G>T
  • NM_001407978.1:c.114G>T
  • NM_001407979.1:c.114G>T
  • NM_001407980.1:c.114G>T
  • NM_001407981.1:c.114G>T
  • NM_001407982.1:c.114G>T
  • NM_001407983.1:c.114G>T
  • NM_001407984.1:c.114G>T
  • NM_001407985.1:c.114G>T
  • NM_001407986.1:c.114G>T
  • NM_001407990.1:c.114G>T
  • NM_001407991.1:c.114G>T
  • NM_001407992.1:c.114G>T
  • NM_001407993.1:c.114G>T
  • NM_001408392.1:c.114G>T
  • NM_001408396.1:c.114G>T
  • NM_001408397.1:c.114G>T
  • NM_001408398.1:c.114G>T
  • NM_001408399.1:c.114G>T
  • NM_001408400.1:c.114G>T
  • NM_001408401.1:c.114G>T
  • NM_001408402.1:c.114G>T
  • NM_001408403.1:c.114G>T
  • NM_001408404.1:c.114G>T
  • NM_001408406.1:c.114G>T
  • NM_001408407.1:c.114G>T
  • NM_001408408.1:c.114G>T
  • NM_001408409.1:c.114G>T
  • NM_001408410.1:c.-28G>T
  • NM_001408411.1:c.114G>T
  • NM_001408412.1:c.114G>T
  • NM_001408413.1:c.114G>T
  • NM_001408414.1:c.114G>T
  • NM_001408415.1:c.114G>T
  • NM_001408416.1:c.114G>T
  • NM_001408418.1:c.114G>T
  • NM_001408419.1:c.114G>T
  • NM_001408420.1:c.114G>T
  • NM_001408421.1:c.114G>T
  • NM_001408422.1:c.114G>T
  • NM_001408423.1:c.114G>T
  • NM_001408424.1:c.114G>T
  • NM_001408425.1:c.114G>T
  • NM_001408426.1:c.114G>T
  • NM_001408427.1:c.114G>T
  • NM_001408428.1:c.114G>T
  • NM_001408429.1:c.114G>T
  • NM_001408430.1:c.114G>T
  • NM_001408431.1:c.114G>T
  • NM_001408432.1:c.114G>T
  • NM_001408433.1:c.114G>T
  • NM_001408434.1:c.114G>T
  • NM_001408435.1:c.114G>T
  • NM_001408436.1:c.114G>T
  • NM_001408437.1:c.114G>T
  • NM_001408438.1:c.114G>T
  • NM_001408439.1:c.114G>T
  • NM_001408440.1:c.114G>T
  • NM_001408441.1:c.114G>T
  • NM_001408442.1:c.114G>T
  • NM_001408443.1:c.114G>T
  • NM_001408444.1:c.114G>T
  • NM_001408445.1:c.114G>T
  • NM_001408446.1:c.114G>T
  • NM_001408447.1:c.114G>T
  • NM_001408448.1:c.114G>T
  • NM_001408450.1:c.114G>T
  • NM_001408452.1:c.-28G>T
  • NM_001408453.1:c.-28G>T
  • NM_001408455.1:c.-144G>T
  • NM_001408456.1:c.-144G>T
  • NM_001408458.1:c.-28G>T
  • NM_001408462.1:c.-28G>T
  • NM_001408463.1:c.-28G>T
  • NM_001408465.1:c.-148G>T
  • NM_001408466.1:c.-28G>T
  • NM_001408468.1:c.-144G>T
  • NM_001408469.1:c.-28G>T
  • NM_001408470.1:c.-28G>T
  • NM_001408472.1:c.114G>T
  • NM_001408473.1:c.114G>T
  • NM_001408474.1:c.114G>T
  • NM_001408475.1:c.114G>T
  • NM_001408476.1:c.114G>T
  • NM_001408478.1:c.-75G>T
  • NM_001408479.1:c.-75G>T
  • NM_001408480.1:c.-75G>T
  • NM_001408481.1:c.-75G>T
  • NM_001408482.1:c.-75G>T
  • NM_001408483.1:c.-75G>T
  • NM_001408484.1:c.-75G>T
  • NM_001408485.1:c.-75G>T
  • NM_001408489.1:c.-75G>T
  • NM_001408490.1:c.-75G>T
  • NM_001408491.1:c.-75G>T
  • NM_001408492.1:c.-191G>T
  • NM_001408493.1:c.-75G>T
  • NM_001408494.1:c.114G>T
  • NM_001408495.1:c.114G>T
  • NM_001408497.1:c.-28G>T
  • NM_001408499.1:c.-28G>T
  • NM_001408500.1:c.-28G>T
  • NM_001408501.1:c.-144G>T
  • NM_001408502.1:c.-75G>T
  • NM_001408503.1:c.-28G>T
  • NM_001408504.1:c.-28G>T
  • NM_001408505.1:c.-28G>T
  • NM_001408506.1:c.-75G>T
  • NM_001408507.1:c.-75G>T
  • NM_001408508.1:c.-75G>T
  • NM_001408509.1:c.-75G>T
  • NM_001408510.1:c.-190G>T
  • NM_001408512.1:c.-190G>T
  • NM_001408513.1:c.-75G>T
  • NM_001408514.1:c.-75G>T
  • NM_007294.4:c.114G>TMANE SELECT
  • NM_007297.4:c.-8+8271G>T
  • NM_007298.4:c.114G>T
  • NM_007299.4:c.114G>T
  • NM_007300.4:c.114G>T
  • NM_007304.2:c.114G>T
  • NP_001394510.1:p.Lys38Asn
  • NP_001394511.1:p.Lys38Asn
  • NP_001394512.1:p.Lys38Asn
  • NP_001394514.1:p.Lys38Asn
  • NP_001394516.1:p.Lys38Asn
  • NP_001394519.1:p.Lys38Asn
  • NP_001394520.1:p.Lys38Asn
  • NP_001394522.1:p.Lys38Asn
  • NP_001394523.1:p.Lys38Asn
  • NP_001394525.1:p.Lys38Asn
  • NP_001394526.1:p.Lys38Asn
  • NP_001394527.1:p.Lys38Asn
  • NP_001394531.1:p.Lys38Asn
  • NP_001394532.1:p.Lys38Asn
  • NP_001394534.1:p.Lys38Asn
  • NP_001394539.1:p.Lys38Asn
  • NP_001394540.1:p.Lys38Asn
  • NP_001394541.1:p.Lys38Asn
  • NP_001394542.1:p.Lys38Asn
  • NP_001394543.1:p.Lys38Asn
  • NP_001394544.1:p.Lys38Asn
  • NP_001394545.1:p.Lys38Asn
  • NP_001394546.1:p.Lys38Asn
  • NP_001394547.1:p.Lys38Asn
  • NP_001394548.1:p.Lys38Asn
  • NP_001394549.1:p.Lys38Asn
  • NP_001394550.1:p.Lys38Asn
  • NP_001394551.1:p.Lys38Asn
  • NP_001394552.1:p.Lys38Asn
  • NP_001394553.1:p.Lys38Asn
  • NP_001394554.1:p.Lys38Asn
  • NP_001394555.1:p.Lys38Asn
  • NP_001394556.1:p.Lys38Asn
  • NP_001394557.1:p.Lys38Asn
  • NP_001394558.1:p.Lys38Asn
  • NP_001394559.1:p.Lys38Asn
  • NP_001394560.1:p.Lys38Asn
  • NP_001394561.1:p.Lys38Asn
  • NP_001394562.1:p.Lys38Asn
  • NP_001394563.1:p.Lys38Asn
  • NP_001394564.1:p.Lys38Asn
  • NP_001394565.1:p.Lys38Asn
  • NP_001394566.1:p.Lys38Asn
  • NP_001394567.1:p.Lys38Asn
  • NP_001394568.1:p.Lys38Asn
  • NP_001394569.1:p.Lys38Asn
  • NP_001394570.1:p.Lys38Asn
  • NP_001394571.1:p.Lys38Asn
  • NP_001394573.1:p.Lys38Asn
  • NP_001394574.1:p.Lys38Asn
  • NP_001394575.1:p.Lys38Asn
  • NP_001394576.1:p.Lys38Asn
  • NP_001394577.1:p.Lys38Asn
  • NP_001394578.1:p.Lys38Asn
  • NP_001394581.1:p.Lys38Asn
  • NP_001394582.1:p.Lys38Asn
  • NP_001394583.1:p.Lys38Asn
  • NP_001394584.1:p.Lys38Asn
  • NP_001394585.1:p.Lys38Asn
  • NP_001394586.1:p.Lys38Asn
  • NP_001394587.1:p.Lys38Asn
  • NP_001394588.1:p.Lys38Asn
  • NP_001394589.1:p.Lys38Asn
  • NP_001394590.1:p.Lys38Asn
  • NP_001394591.1:p.Lys38Asn
  • NP_001394592.1:p.Lys38Asn
  • NP_001394593.1:p.Lys38Asn
  • NP_001394594.1:p.Lys38Asn
  • NP_001394595.1:p.Lys38Asn
  • NP_001394596.1:p.Lys38Asn
  • NP_001394597.1:p.Lys38Asn
  • NP_001394598.1:p.Lys38Asn
  • NP_001394599.1:p.Lys38Asn
  • NP_001394600.1:p.Lys38Asn
  • NP_001394601.1:p.Lys38Asn
  • NP_001394602.1:p.Lys38Asn
  • NP_001394603.1:p.Lys38Asn
  • NP_001394604.1:p.Lys38Asn
  • NP_001394605.1:p.Lys38Asn
  • NP_001394606.1:p.Lys38Asn
  • NP_001394607.1:p.Lys38Asn
  • NP_001394608.1:p.Lys38Asn
  • NP_001394609.1:p.Lys38Asn
  • NP_001394610.1:p.Lys38Asn
  • NP_001394611.1:p.Lys38Asn
  • NP_001394612.1:p.Lys38Asn
  • NP_001394613.1:p.Lys38Asn
  • NP_001394614.1:p.Lys38Asn
  • NP_001394615.1:p.Lys38Asn
  • NP_001394616.1:p.Lys38Asn
  • NP_001394617.1:p.Lys38Asn
  • NP_001394618.1:p.Lys38Asn
  • NP_001394619.1:p.Lys38Asn
  • NP_001394620.1:p.Lys38Asn
  • NP_001394783.1:p.Lys38Asn
  • NP_001394787.1:p.Lys38Asn
  • NP_001394788.1:p.Lys38Asn
  • NP_001394789.1:p.Lys38Asn
  • NP_001394790.1:p.Lys38Asn
  • NP_001394791.1:p.Lys38Asn
  • NP_001394792.1:p.Lys38Asn
  • NP_001394803.1:p.Lys38Asn
  • NP_001394804.1:p.Lys38Asn
  • NP_001394848.1:p.Lys38Asn
  • NP_001394866.1:p.Lys38Asn
  • NP_001394867.1:p.Lys38Asn
  • NP_001394868.1:p.Lys38Asn
  • NP_001394869.1:p.Lys38Asn
  • NP_001394870.1:p.Lys38Asn
  • NP_001394897.1:p.Lys38Asn
  • NP_001394898.1:p.Lys38Asn
  • NP_001394899.1:p.Lys38Asn
  • NP_001394900.1:p.Lys38Asn
  • NP_001394901.1:p.Lys38Asn
  • NP_001394902.1:p.Lys38Asn
  • NP_001394903.1:p.Lys38Asn
  • NP_001394904.1:p.Lys38Asn
  • NP_001394905.1:p.Lys38Asn
  • NP_001394906.1:p.Lys38Asn
  • NP_001394907.1:p.Lys38Asn
  • NP_001394908.1:p.Lys38Asn
  • NP_001394909.1:p.Lys38Asn
  • NP_001394910.1:p.Lys38Asn
  • NP_001394911.1:p.Lys38Asn
  • NP_001394912.1:p.Lys38Asn
  • NP_001394913.1:p.Lys38Asn
  • NP_001394914.1:p.Lys38Asn
  • NP_001394915.1:p.Lys38Asn
  • NP_001394919.1:p.Lys38Asn
  • NP_001394920.1:p.Lys38Asn
  • NP_001394921.1:p.Lys38Asn
  • NP_001394922.1:p.Lys38Asn
  • NP_001395321.1:p.Lys38Asn
  • NP_001395325.1:p.Lys38Asn
  • NP_001395326.1:p.Lys38Asn
  • NP_001395327.1:p.Lys38Asn
  • NP_001395328.1:p.Lys38Asn
  • NP_001395329.1:p.Lys38Asn
  • NP_001395330.1:p.Lys38Asn
  • NP_001395331.1:p.Lys38Asn
  • NP_001395332.1:p.Lys38Asn
  • NP_001395333.1:p.Lys38Asn
  • NP_001395335.1:p.Lys38Asn
  • NP_001395336.1:p.Lys38Asn
  • NP_001395337.1:p.Lys38Asn
  • NP_001395338.1:p.Lys38Asn
  • NP_001395340.1:p.Lys38Asn
  • NP_001395341.1:p.Lys38Asn
  • NP_001395342.1:p.Lys38Asn
  • NP_001395343.1:p.Lys38Asn
  • NP_001395344.1:p.Lys38Asn
  • NP_001395345.1:p.Lys38Asn
  • NP_001395347.1:p.Lys38Asn
  • NP_001395348.1:p.Lys38Asn
  • NP_001395349.1:p.Lys38Asn
  • NP_001395350.1:p.Lys38Asn
  • NP_001395351.1:p.Lys38Asn
  • NP_001395352.1:p.Lys38Asn
  • NP_001395353.1:p.Lys38Asn
  • NP_001395354.1:p.Lys38Asn
  • NP_001395355.1:p.Lys38Asn
  • NP_001395356.1:p.Lys38Asn
  • NP_001395357.1:p.Lys38Asn
  • NP_001395358.1:p.Lys38Asn
  • NP_001395359.1:p.Lys38Asn
  • NP_001395360.1:p.Lys38Asn
  • NP_001395361.1:p.Lys38Asn
  • NP_001395362.1:p.Lys38Asn
  • NP_001395363.1:p.Lys38Asn
  • NP_001395364.1:p.Lys38Asn
  • NP_001395365.1:p.Lys38Asn
  • NP_001395366.1:p.Lys38Asn
  • NP_001395367.1:p.Lys38Asn
  • NP_001395368.1:p.Lys38Asn
  • NP_001395369.1:p.Lys38Asn
  • NP_001395370.1:p.Lys38Asn
  • NP_001395371.1:p.Lys38Asn
  • NP_001395372.1:p.Lys38Asn
  • NP_001395373.1:p.Lys38Asn
  • NP_001395374.1:p.Lys38Asn
  • NP_001395375.1:p.Lys38Asn
  • NP_001395376.1:p.Lys38Asn
  • NP_001395377.1:p.Lys38Asn
  • NP_001395379.1:p.Lys38Asn
  • NP_001395401.1:p.Lys38Asn
  • NP_001395402.1:p.Lys38Asn
  • NP_001395403.1:p.Lys38Asn
  • NP_001395404.1:p.Lys38Asn
  • NP_001395405.1:p.Lys38Asn
  • NP_001395423.1:p.Lys38Asn
  • NP_001395424.1:p.Lys38Asn
  • NP_009225.1:p.Lys38Asn
  • NP_009225.1:p.Lys38Asn
  • NP_009229.2:p.Lys38Asn
  • NP_009229.2:p.Lys38Asn
  • NP_009230.2:p.Lys38Asn
  • NP_009231.2:p.Lys38Asn
  • NP_009235.2:p.Lys38Asn
  • LRG_292t1:c.114G>T
  • LRG_292:g.102238G>T
  • LRG_292p1:p.Lys38Asn
  • NC_000017.10:g.41267763C>A
  • NM_007294.3:c.114G>T
  • NM_007298.3:c.114G>T
  • NR_027676.2:n.316G>T
  • U14680.1:n.233G>T
Protein change:
K38N
Links:
dbSNP: rs1800062
NCBI 1000 Genomes Browser:
rs1800062
Molecular consequence:
  • NM_007297.4:c.-8+8271G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.114G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.316G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000698833Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 17, 2016) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

PubMed [citation]
PMID:
15235020
PMCID:
PMC1735826

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

Morris JR, Pangon L, Boutell C, Katagiri T, Keep NH, Solomon E.

Hum Mol Genet. 2006 Feb 15;15(4):599-606. Epub 2006 Jan 10.

PubMed [citation]
PMID:
16403807
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: The BRCA1 c.114G>T (p.Lys38Asn) variant involves the alteration of a conserved Lys residue located in the central RING motif of BRCA. 3/3 in silico tools predict a damaging outcome for this variant. This variant is absent in 113602 control chromosomes and to our knowledge, it was not reported in HBOC patients via publications either. Functional studies demonstrated the variant not to have an impact on BARD1 and UbcH5a binding and to retain E3 ligase and HDR activity of BRCA1 indicating neutrality. Additionally, the variant was reported in the BIC database to co-occur with a pathogenic BRCA2 variant in one individual further suggesting it to be in the benign spectrum. Considering all evidence, the variant was classified as a VUS-possibly benign until more information becomes available.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024