chr6-43610590-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006502.3(POLH):c.1111C>T(p.Arg371Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000565 in 1,613,902 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R371R) has been classified as Likely benign.
Frequency
Consequence
NM_006502.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLH | NM_006502.3 | c.1111C>T | p.Arg371Cys | missense_variant | 10/11 | ENST00000372236.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLH | ENST00000372236.9 | c.1111C>T | p.Arg371Cys | missense_variant | 10/11 | 1 | NM_006502.3 | P1 | |
POLH | ENST00000372226.1 | c.1111C>T | p.Arg371Cys | missense_variant | 10/11 | 1 | |||
GTPBP2 | ENST00000496137.5 | c.*132-5208G>A | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000401 AC: 61AN: 152128Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000294 AC: 74AN: 251356Hom.: 0 AF XY: 0.000243 AC XY: 33AN XY: 135844
GnomAD4 exome AF: 0.000582 AC: 851AN: 1461774Hom.: 0 Cov.: 31 AF XY: 0.000551 AC XY: 401AN XY: 727196
GnomAD4 genome AF: 0.000401 AC: 61AN: 152128Hom.: 0 Cov.: 31 AF XY: 0.000457 AC XY: 34AN XY: 74322
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Apr 29, 2019 | Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30303537) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at