rs201232871
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_182976.4(ZNF326):āc.17A>Gā(p.Asp6Gly) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,514 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D6V) has been classified as Uncertain significance.
Frequency
Consequence
NM_182976.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF326 | ENST00000340281.9 | c.17A>G | p.Asp6Gly | missense_variant, splice_region_variant | Exon 2 of 12 | 1 | NM_182976.4 | ENSP00000340796.4 | ||
ZNF326 | ENST00000370447.3 | c.17A>G | p.Asp6Gly | missense_variant, splice_region_variant | Exon 2 of 12 | 1 | ENSP00000359476.2 | |||
ZNF326 | ENST00000361911.9 | c.17A>G | p.Asp6Gly | missense_variant, splice_region_variant | Exon 2 of 4 | 1 | ENSP00000355318.5 | |||
ZNF326 | ENST00000394583.7 | n.17A>G | splice_region_variant, non_coding_transcript_exon_variant | Exon 2 of 10 | 1 | ENSP00000378084.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460514Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726544
GnomAD4 genome Cov.: 32
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.