chr5-100856191-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005668.6(ST8SIA4):c.709G>A(p.Val237Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,613,994 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005668.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ST8SIA4 | NM_005668.6 | c.709G>A | p.Val237Met | missense_variant | Exon 4 of 5 | ENST00000231461.10 | NP_005659.1 | |
ST8SIA4 | XM_005272078.4 | c.709G>A | p.Val237Met | missense_variant | Exon 4 of 5 | XP_005272135.1 | ||
ST8SIA4 | XM_011543630.3 | c.503+30152G>A | intron_variant | Intron 3 of 3 | XP_011541932.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251232Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135762
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461828Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727208
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.709G>A (p.V237M) alteration is located in exon 4 (coding exon 4) of the ST8SIA4 gene. This alteration results from a G to A substitution at nucleotide position 709, causing the valine (V) at amino acid position 237 to be replaced by a methionine (M). 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