rs746933715
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003599.4(SUPT3H):c.823G>C(p.Glu275Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000000687 in 1,456,630 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_003599.4 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 |
---|---|---|---|---|---|---|---|---|
SUPT3H | NM_003599.4 | c.823G>C | p.Glu275Gln | missense_variant | Exon 10 of 11 | ENST00000371459.6 | NP_003590.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 245060Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132726
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456630Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 724674
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.856G>C (p.E286Q) alteration is located in exon 12 (coding exon 10) of the SUPT3H gene. This alteration results from a G to C substitution at nucleotide position 856, causing the glutamic acid (E) at amino acid position 286 to be replaced by a glutamine (Q). 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