rs376196104
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003599.4(SUPT3H):c.343G>A(p.Asp115Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000446 in 1,590,936 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.343G>A | p.Asp115Asn | missense_variant | Exon 5 of 11 | ENST00000371459.6 | NP_003590.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SUPT3H | ENST00000371459.6 | c.343G>A | p.Asp115Asn | missense_variant | Exon 5 of 11 | 1 | NM_003599.4 | ENSP00000360514.1 | ||
SUPT3H | ENST00000371460.5 | c.376G>A | p.Asp126Asn | missense_variant | Exon 7 of 13 | 1 | ENSP00000360515.1 | |||
SUPT3H | ENST00000637763.2 | c.157G>A | p.Asp53Asn | missense_variant | Exon 3 of 9 | 3 | ENSP00000490652.2 | |||
SUPT3H | ENST00000475057.5 | n.343G>A | non_coding_transcript_exon_variant | Exon 5 of 12 | 2 | ENSP00000436411.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152058Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000629 AC: 15AN: 238534Hom.: 0 AF XY: 0.0000620 AC XY: 8AN XY: 129114
GnomAD4 exome AF: 0.0000459 AC: 66AN: 1438878Hom.: 0 Cov.: 29 AF XY: 0.0000461 AC XY: 33AN XY: 715180
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152058Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.376G>A (p.D126N) alteration is located in exon 7 (coding exon 5) of the SUPT3H gene. This alteration results from a G to A substitution at nucleotide position 376, causing the aspartic acid (D) at amino acid position 126 to be replaced by an asparagine (N). 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