chr17-76081984-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_180990.4(ZACN):c.983G>T(p.Gly328Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000062 in 1,612,110 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G328S) has been classified as Likely benign.
Frequency
Consequence
NM_180990.4 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 |
---|---|---|---|---|---|---|---|
ZACN | NM_180990.4 | c.983G>T | p.Gly328Val | missense_variant | 8/9 | ENST00000334586.10 | |
EXOC7 | NM_001013839.4 | c.*1664C>A | 3_prime_UTR_variant | 19/19 | ENST00000589210.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZACN | ENST00000334586.10 | c.983G>T | p.Gly328Val | missense_variant | 8/9 | 1 | NM_180990.4 | P1 | |
EXOC7 | ENST00000589210.6 | c.*1664C>A | 3_prime_UTR_variant | 19/19 | 1 | NM_001013839.4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1459914Hom.: 0 Cov.: 34 AF XY: 0.00000964 AC XY: 7AN XY: 726260
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.983G>T (p.G328V) alteration is located in exon 8 (coding exon 8) of the ZACN gene. This alteration results from a G to T substitution at nucleotide position 983, causing the glycine (G) at amino acid position 328 to be replaced by a valine (V). 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