1-90007547-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_182976.4(ZNF326):c.412C>T(p.Arg138Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000205 in 1,613,662 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182976.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF326 | ENST00000340281.9 | c.412C>T | p.Arg138Cys | missense_variant | Exon 5 of 12 | 1 | NM_182976.4 | ENSP00000340796.4 | ||
ZNF326 | ENST00000370447.3 | c.210-65C>T | intron_variant | Intron 4 of 11 | 1 | ENSP00000359476.2 | ||||
ZNF326 | ENST00000394583.7 | n.151+2455C>T | intron_variant | Intron 3 of 9 | 1 | ENSP00000378084.3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151948Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251012Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135646
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461714Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 727148
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151948Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74194
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.412C>T (p.R138C) alteration is located in exon 5 (coding exon 5) of the ZNF326 gene. This alteration results from a C to T substitution at nucleotide position 412, causing the arginine (R) at amino acid position 138 to be replaced by a cysteine (C). 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