6-45003709-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003599.4(SUPT3H):c.448C>A(p.Leu150Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000477 in 1,613,664 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SUPT3H | NM_003599.4 | c.448C>A | p.Leu150Ile | 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.448C>A | p.Leu150Ile | missense_variant | Exon 6 of 11 | 1 | NM_003599.4 | ENSP00000360514.1 | ||
SUPT3H | ENST00000371460.5 | c.481C>A | p.Leu161Ile | missense_variant | Exon 8 of 13 | 1 | ENSP00000360515.1 | |||
SUPT3H | ENST00000637763.2 | c.262C>A | p.Leu88Ile | missense_variant | Exon 4 of 9 | 3 | ENSP00000490652.2 | |||
SUPT3H | ENST00000475057.5 | n.448C>A | non_coding_transcript_exon_variant | Exon 6 of 12 | 2 | ENSP00000436411.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152128Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000757 AC: 19AN: 251038Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135684
GnomAD4 exome AF: 0.0000479 AC: 70AN: 1461536Hom.: 0 Cov.: 31 AF XY: 0.0000495 AC XY: 36AN XY: 727082
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152128Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.481C>A (p.L161I) alteration is located in exon 8 (coding exon 6) of the SUPT3H gene. This alteration results from a C to A substitution at nucleotide position 481, causing the leucine (L) at amino acid position 161 to be replaced by an isoleucine (I). 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