chr6-31779170-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_006295.3(VARS1):c.3523G>A(p.Gly1175Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006295.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VARS1 | NM_006295.3 | c.3523G>A | p.Gly1175Ser | missense_variant | Exon 29 of 30 | ENST00000375663.8 | NP_006286.1 | |
VARS1 | XM_005249362.3 | c.3526G>A | p.Gly1176Ser | missense_variant | Exon 29 of 30 | XP_005249419.1 | ||
VARS1 | XM_047419296.1 | c.3526G>A | p.Gly1176Ser | missense_variant | Exon 28 of 29 | XP_047275252.1 | ||
VARS1 | XM_047419297.1 | c.3523G>A | p.Gly1175Ser | missense_variant | Exon 28 of 29 | XP_047275253.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3523G>A (p.G1175S) alteration is located in exon 29 (coding exon 28) of the VARS gene. This alteration results from a G to A substitution at nucleotide position 3523, causing the glycine (G) at amino acid position 1175 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.