chr6-43582343-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_006502.3(POLH):c.24G>T(p.Val8=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,461,834 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. V8V) has been classified as Likely benign.
Frequency
Consequence
NM_006502.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLH | NM_006502.3 | c.24G>T | p.Val8= | synonymous_variant | 2/11 | ENST00000372236.9 | |
POLH | NM_001291970.2 | c.24G>T | p.Val8= | synonymous_variant | 2/11 | ||
POLH | NM_001291969.2 | c.-17-664G>T | intron_variant | ||||
POLR1C | NM_001318876.2 | c.945+53072G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLH | ENST00000372236.9 | c.24G>T | p.Val8= | synonymous_variant | 2/11 | 1 | NM_006502.3 | P1 | |
POLH | ENST00000372226.1 | c.24G>T | p.Val8= | synonymous_variant | 2/11 | 1 | |||
POLH | ENST00000443535.1 | c.-49-664G>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251494Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135920
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461834Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727234
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 16, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at