chr12-57243907-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_145064.3(STAC3):c.1000G>C(p.Val334Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,461,502 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_145064.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
STAC3 | NM_145064.3 | c.1000G>C | p.Val334Leu | missense_variant | Exon 12 of 12 | ENST00000332782.7 | NP_659501.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249878Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135308
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461502Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727010
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1000G>C (p.V334L) alteration is located in exon 12 (coding exon 11) of the STAC3 gene. This alteration results from a G to C substitution at nucleotide position 1000, causing the valine (V) at amino acid position 334 to be replaced by a leucine (L). 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