chr16-31061379-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024706.5(ZNF668):c.1549G>C(p.Val517Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,420 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_024706.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF668 | NM_024706.5 | c.1549G>C | p.Val517Leu | missense_variant | 3/3 | ENST00000300849.5 | |
ZNF668 | NM_001172669.2 | c.1618G>C | p.Val540Leu | missense_variant | 4/4 | ||
ZNF668 | NM_001172668.2 | c.1549G>C | p.Val517Leu | missense_variant | 3/3 | ||
ZNF668 | NM_001172670.2 | c.1549G>C | p.Val517Leu | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF668 | ENST00000300849.5 | c.1549G>C | p.Val517Leu | missense_variant | 3/3 | 1 | NM_024706.5 | P1 | |
ENST00000622229.1 | n.1956C>G | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461420Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727018
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Myoepithelial tumor Uncertain:1
Uncertain significance, no assertion criteria provided | research | Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine | Nov 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.