rs12460170
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_024733.5(ZNF665):āc.251T>Cā(p.Val84Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.607 in 1,613,672 control chromosomes in the GnomAD database, including 305,082 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_024733.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF665 | NM_024733.5 | c.251T>C | p.Val84Ala | missense_variant | 4/4 | ENST00000396424.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF665 | ENST00000396424.5 | c.251T>C | p.Val84Ala | missense_variant | 4/4 | 2 | NM_024733.5 | P1 | |
ZNF665 | ENST00000650736.1 | c.251T>C | p.Val84Ala | missense_variant | 5/5 | P1 | |||
ZNF665 | ENST00000600412.1 | c.56T>C | p.Val19Ala | missense_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.516 AC: 78436AN: 151966Hom.: 22934 Cov.: 32
GnomAD3 exomes AF: 0.624 AC: 155501AN: 249198Hom.: 50581 AF XY: 0.629 AC XY: 85090AN XY: 135184
GnomAD4 exome AF: 0.616 AC: 900457AN: 1461588Hom.: 282136 Cov.: 59 AF XY: 0.620 AC XY: 450496AN XY: 727062
GnomAD4 genome ? AF: 0.516 AC: 78477AN: 152084Hom.: 22946 Cov.: 32 AF XY: 0.524 AC XY: 38942AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at