9-113988500-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001318042.2(ZNF618):c.257C>T(p.Ala86Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000329 in 1,613,062 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001318042.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF618 | NM_001318042.2 | c.257C>T | p.Ala86Val | missense_variant | 3/15 | ENST00000374126.10 | NP_001304971.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF618 | ENST00000374126.10 | c.257C>T | p.Ala86Val | missense_variant | 3/15 | 1 | NM_001318042.2 | ENSP00000363241 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152206Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000198 AC: 49AN: 247682Hom.: 0 AF XY: 0.000178 AC XY: 24AN XY: 134528
GnomAD4 exome AF: 0.000346 AC: 506AN: 1460856Hom.: 0 Cov.: 31 AF XY: 0.000345 AC XY: 251AN XY: 726722
GnomAD4 genome AF: 0.000158 AC: 24AN: 152206Hom.: 0 Cov.: 34 AF XY: 0.000202 AC XY: 15AN XY: 74352
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2023 | ZNF618: BP4 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at