17-76081695-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_180990.4(ZACN):c.820G>A(p.Val274Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,614,070 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_180990.4 missense
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 |
---|---|---|---|---|---|---|---|---|---|---|
ZACN | ENST00000334586.10 | c.820G>A | p.Val274Ile | missense_variant | Exon 7 of 9 | 1 | NM_180990.4 | ENSP00000334854.5 | ||
EXOC7 | ENST00000589210 | c.*1953C>T | 3_prime_UTR_variant | Exon 19 of 19 | 1 | NM_001013839.4 | ENSP00000468404.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152140Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251376Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135886
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461812Hom.: 0 Cov.: 34 AF XY: 0.0000303 AC XY: 22AN XY: 727208
GnomAD4 genome AF: 0.000105 AC: 16AN: 152258Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74442
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.820G>A (p.V274I) alteration is located in exon 7 (coding exon 7) of the ZACN gene. This alteration results from a G to A substitution at nucleotide position 820, causing the valine (V) at amino acid position 274 to be replaced by an isoleucine (I). 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