6-45003673-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003599.4(SUPT3H):āc.484G>Cā(p.Val162Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000403 in 1,613,460 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 (ā ).
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.484G>C | p.Val162Leu | missense_variant | Exon 6 of 11 | ENST00000371459.6 | NP_003590.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SUPT3H | ENST00000371459.6 | c.484G>C | p.Val162Leu | missense_variant | Exon 6 of 11 | 1 | NM_003599.4 | ENSP00000360514.1 | ||
SUPT3H | ENST00000371460.5 | c.517G>C | p.Val173Leu | missense_variant | Exon 8 of 13 | 1 | ENSP00000360515.1 | |||
SUPT3H | ENST00000637763.2 | c.298G>C | p.Val100Leu | missense_variant | Exon 4 of 9 | 3 | ENSP00000490652.2 | |||
SUPT3H | ENST00000475057.5 | n.484G>C | non_coding_transcript_exon_variant | Exon 6 of 12 | 2 | ENSP00000436411.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250830Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135572
GnomAD4 exome AF: 0.0000411 AC: 60AN: 1461282Hom.: 0 Cov.: 31 AF XY: 0.0000495 AC XY: 36AN XY: 726942
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.517G>C (p.V173L) alteration is located in exon 8 (coding exon 6) of the SUPT3H gene. This alteration results from a G to C substitution at nucleotide position 517, causing the valine (V) at amino acid position 173 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