chr19-55614597-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001195605.2(ZNF865):c.979G>A(p.Ala327Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000855 in 1,521,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001195605.2 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 |
---|---|---|---|---|---|---|---|
ZNF865 | NM_001195605.2 | c.979G>A | p.Ala327Thr | missense_variant | 2/2 | ENST00000568956.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF865 | ENST00000568956.2 | c.979G>A | p.Ala327Thr | missense_variant | 2/2 | 2 | NM_001195605.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000330 AC: 5AN: 151602Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000584 AC: 8AN: 1369550Hom.: 0 Cov.: 38 AF XY: 0.00000592 AC XY: 4AN XY: 675540
GnomAD4 genome AF: 0.0000330 AC: 5AN: 151602Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74016
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at