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Table 1 Missense and splice site variants in RNASEH2A, RNASEH2B and RNASEH2C

From: Germline variation of Ribonuclease H2 genes in ovarian cancer patients

Genome variant cDNA Protein rsID Predictions N (cases) N (controls)
RNASEH2A
 chr19:12917491 G > T, chr19:12917495 T > C c.4G > T, c.8 T > C p.D2Y, p.L3P rs761331717, rs764685443 likely pathogenic, variants not conserved 0 1**
 chr19:12918043 G > C c.223G > C p.E75Q rs753695101 likely pathogenic, variant conserved 1 0
 chr19:12918304 G > A c.395G > A p.G132D rs753110328 likely pathogenic, variant not conserved 1 0
 chr19:12921186 T > C c.605 T > C p.L202S rs7247284 likely benign, variant not conserved 41 59 (1 hom)
 chr19:12921196 T > A c.615 T > A p.D205E*** rs62619782 likely pathogenic, variant conserved 16 16
 chr19:12923921 A > G c.662A > G p.K221R rs143534021 likely benign, variant conserved 0 1
 chr19:12923974 C > T c.715C > T p.R239C rs372667206 likely pathogenic, variant not conserved 1 0
 chr19:12924260 G > A c.880G > A p.E294K rs764614950 likely pathogenic, variant conserved 1 0
RNASEH2B
 chr13:51501610 T > A c.132 T > A p.C44X rs74876702 likely pathogenic 1 0
 chr13:51517475 A > G c.455A > G p.N152S rs146451037 likely benign, variant conserved 1 1
 chr13:51519581 G > A c.529G > A p.A177T rs75184679 likely pathogenic, variant not conserved 0 4
 chr13:51522138 A > T c.632A > T p.Y211F rs779596970 likely pathogenic, variant conserved 1 0
 chr13:51522155 T > C c.649 T > C p.S217P rs778933609 likely pathogenic, variant not conserved 1 0
 chr13:51528043 A > C c.744A > C* p.K248N* rs748144224 likely pathogenic*, variant not conserved 1 0
 chr13:51528086 A > G c.787A > G* p.T263A* rs150363383 likely pathogenic*, variant not conserved 1 0
 chr13:51530494 insA c.827dupA* p.N276Kfs* rs746868812 likely pathogenic* 0 1
 chr13:51530501 G > A c.830G > A* p.S277N* rs200802557 likely pathogenic, variant conserved* 0 1
 chr13:51530530 G > T c.859G > T* p.A287S* rs144408326 likely pathogenic, variant conserved* 3 7
 chr13:51530539 G > A c.868G > A* p.D290N* rs201190805 likely pathogenic, variant conserved* 0 1
RNASEH2C
 chr11:65487516 C > A c.468G > T p.A156A rs61736590 splice site affected 5 4
  1. Missense and splice site variants of RNASEH2A, RNASEH2B and RNASEH2C identified among 602 German patients with EOC and of 940 healthy German females. Variant positions refer to the GRCh37.p13 Primary Assembly of the human genome. Variant annotations are based on reference sequences NM_006397.2, NM_024570.3 and NM_032193.3. RsID was derived from the NCBI SNP database (https://www.ncbi.nlm.nih.gov/snp/). Predictions were made using Mutation Taster and MaxEntScan as described in the Methods section. N (cases) and N (controls) list the numbers of carriers in the respective group. All variant carriers were heterozygotes, except for one homozygote with p.L202S in RNASEH2A. Asterisks: * variants that are coding only in isoform 1 of the RNASEH2B transcript; **two variants listed separately in NCBI SNP but constituting a double missense allele in the same individual; ***samples with p.D205E also carried p.L202S