chr19-57721142-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024833.3(ZNF671):c.944G>A(p.Cys315Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,614,182 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024833.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF671 | NM_024833.3 | c.944G>A | p.Cys315Tyr | missense_variant | Exon 4 of 4 | ENST00000317398.10 | NP_079109.2 | |
ZNF671 | NM_001321376.2 | c.713G>A | p.Cys238Tyr | missense_variant | Exon 5 of 5 | NP_001308305.1 | ||
ZNF671 | NM_001321375.2 | c.650G>A | p.Cys217Tyr | missense_variant | Exon 3 of 3 | NP_001308304.1 | ||
ZNF671 | XM_017027314.2 | c.713G>A | p.Cys238Tyr | 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.944G>A | p.Cys315Tyr | missense_variant | Exon 4 of 4 | 1 | NM_024833.3 | ENSP00000321848.5 | ||
ENSG00000269026 | ENST00000594684.1 | c.34-29643C>T | intron_variant | Intron 1 of 2 | 1 | ENSP00000472160.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251444Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135888
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461858Hom.: 0 Cov.: 35 AF XY: 0.00000413 AC XY: 3AN XY: 727228
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152324Hom.: 0 Cov.: 33 AF XY: 0.0000268 AC XY: 2AN XY: 74498
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.944G>A (p.C315Y) alteration is located in exon 4 (coding exon 4) of the ZNF671 gene. This alteration results from a G to A substitution at nucleotide position 944, causing the cysteine (C) at amino acid position 315 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at