6-44829851-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003599.4(SUPT3H):āc.919T>Cā(p.Tyr307His) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,926 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SUPT3H | NM_003599.4 | c.919T>C | p.Tyr307His | missense_variant | Exon 11 of 11 | ENST00000371459.6 | NP_003590.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460926Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726804
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.952T>C (p.Y318H) alteration is located in exon 13 (coding exon 11) of the SUPT3H gene. This alteration results from a T to C substitution at nucleotide position 952, causing the tyrosine (Y) at amino acid position 318 to be replaced by a histidine (H). 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