9-114047947-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001318042.2(ZNF618):āc.1301T>Cā(p.Val434Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000805 in 1,601,692 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001318042.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF618 | NM_001318042.2 | c.1301T>C | p.Val434Ala | missense_variant | 14/15 | ENST00000374126.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF618 | ENST00000374126.10 | c.1301T>C | p.Val434Ala | missense_variant | 14/15 | 1 | NM_001318042.2 | P4 | |
ZNF618 | ENST00000615615.4 | c.1202T>C | p.Val401Ala | missense_variant | 13/14 | 1 | A1 | ||
ZNF618 | ENST00000470105.1 | n.1314T>C | non_coding_transcript_exon_variant | 5/6 | 1 | ||||
ZNF618 | ENST00000288466.11 | c.1022T>C | p.Val341Ala | missense_variant | 13/14 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000217 AC: 5AN: 230050Hom.: 0 AF XY: 0.0000162 AC XY: 2AN XY: 123776
GnomAD4 exome AF: 0.0000855 AC: 124AN: 1449484Hom.: 0 Cov.: 30 AF XY: 0.0000792 AC XY: 57AN XY: 719462
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152208Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.1022T>C (p.V341A) alteration is located in exon 13 (coding exon 13) of the ZNF618 gene. This alteration results from a T to C substitution at nucleotide position 1022, causing the valine (V) at amino acid position 341 to be replaced by an alanine (A). 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