7-149765010-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207336.3(ZNF467):c.1492C>A(p.Arg498Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000699 in 1,430,028 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 Uncertain significance (★).
Frequency
Consequence
NM_207336.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF467 | NM_207336.3 | c.1492C>A | p.Arg498Ser | missense_variant | 5/5 | ENST00000302017.4 | NP_997219.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF467 | ENST00000302017.4 | c.1492C>A | p.Arg498Ser | missense_variant | 5/5 | 1 | NM_207336.3 | ENSP00000304769.3 | ||
ZNF467 | ENST00000484747.5 | c.263-332C>A | intron_variant | 2 | ENSP00000418011.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.99e-7 AC: 1AN: 1430028Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 710524
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 13, 2022 | The c.1492C>A (p.R498S) alteration is located in exon 5 (coding exon 4) of the ZNF467 gene. This alteration results from a C to A substitution at nucleotide position 1492, causing the arginine (R) at amino acid position 498 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.