chr14-102326258-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018335.6(ZNF839):c.562G>A(p.Val188Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,580 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 (★).
Frequency
Consequence
NM_018335.6 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 |
---|---|---|---|---|---|---|---|
ZNF839 | NM_018335.6 | c.562G>A | p.Val188Ile | missense_variant | 2/8 | ENST00000442396.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF839 | ENST00000442396.7 | c.562G>A | p.Val188Ile | missense_variant | 2/8 | 5 | NM_018335.6 | A2 | |
ZNF839 | ENST00000558850.5 | c.214G>A | p.Val72Ile | missense_variant | 2/8 | 2 | P2 | ||
ZNF839 | ENST00000559185.5 | c.214G>A | p.Val72Ile | missense_variant | 2/8 | 2 | P2 | ||
ZNF839 | ENST00000559098.5 | c.370G>A | p.Val124Ile | missense_variant, NMD_transcript_variant | 2/9 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461580Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727056
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.