chr7-64219802-A-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001159524.1(ZNF735):c.751A>T(p.Arg251Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000552 in 1,612,928 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001159524.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF735 | NM_001159524.1 | c.751A>T | p.Arg251Trp | missense_variant | 4/4 | ENST00000429565.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF735 | ENST00000429565.5 | c.751A>T | p.Arg251Trp | missense_variant | 4/4 | 5 | NM_001159524.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000101 AC: 25AN: 246698Hom.: 1 AF XY: 0.000149 AC XY: 20AN XY: 134076
GnomAD4 exome AF: 0.0000596 AC: 87AN: 1460584Hom.: 2 Cov.: 33 AF XY: 0.0000798 AC XY: 58AN XY: 726494
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152344Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 23, 2023 | The c.751A>T (p.R251W) alteration is located in exon 4 (coding exon 4) of the ZNF735 gene. This alteration results from a A to T substitution at nucleotide position 751, causing the arginine (R) at amino acid position 251 to be replaced by a tryptophan (W). 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