chr8-7358517-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001164457.3(ZNF705G):c.362C>T(p.Ser121Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000267 in 149,646 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001164457.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF705G | NM_001164457.3 | c.362C>T | p.Ser121Leu | missense_variant | 7/7 | ENST00000400156.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF705G | ENST00000400156.4 | c.362C>T | p.Ser121Leu | missense_variant | 7/7 | 2 | NM_001164457.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000267 AC: 4AN: 149646Hom.: 1 Cov.: 37
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000268 AC: 39AN: 1457720Hom.: 1 Cov.: 35 AF XY: 0.0000207 AC XY: 15AN XY: 725262
GnomAD4 genome ? AF: 0.0000267 AC: 4AN: 149646Hom.: 1 Cov.: 37 AF XY: 0.0000410 AC XY: 3AN XY: 73128
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at