chr10-43557268-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001099282.2(ZNF239):c.812G>T(p.Gly271Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G271D) has been classified as Uncertain significance.
Frequency
Consequence
NM_001099282.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF239 | ENST00000374446.7 | c.812G>T | p.Gly271Val | missense_variant | Exon 4 of 4 | 1 | NM_001099282.2 | ENSP00000363569.1 | ||
ZNF239 | ENST00000306006.10 | c.812G>T | p.Gly271Val | missense_variant | Exon 2 of 2 | 1 | ENSP00000307774.6 | |||
ZNF239 | ENST00000426961.1 | c.812G>T | p.Gly271Val | missense_variant | Exon 3 of 3 | 2 | ENSP00000398202.1 | |||
ZNF239 | ENST00000535642.5 | c.812G>T | p.Gly271Val | missense_variant | Exon 2 of 2 | 2 | ENSP00000443907.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.