rs78797427
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_024833.3(ZNF671):c.1208G>C(p.Gly403Ala) 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. G403E) has been classified as Benign.
Frequency
Consequence
NM_024833.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF671 | NM_024833.3 | c.1208G>C | p.Gly403Ala | missense_variant | Exon 4 of 4 | ENST00000317398.10 | NP_079109.2 | |
ZNF671 | NM_001321376.2 | c.977G>C | p.Gly326Ala | missense_variant | Exon 5 of 5 | NP_001308305.1 | ||
ZNF671 | NM_001321375.2 | c.914G>C | p.Gly305Ala | missense_variant | Exon 3 of 3 | NP_001308304.1 | ||
ZNF671 | XM_017027314.2 | c.977G>C | p.Gly326Ala | missense_variant | Exon 4 of 4 | XP_016882803.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF671 | ENST00000317398.10 | c.1208G>C | p.Gly403Ala | missense_variant | Exon 4 of 4 | 1 | NM_024833.3 | ENSP00000321848.5 | ||
ENSG00000269026 | ENST00000594684.1 | c.34-29907C>G | intron_variant | Intron 1 of 2 | 1 | ENSP00000472160.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at