1-33864285-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001379301.1(HMGB4):c.94C>T(p.Pro32Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000372 in 1,613,184 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001379301.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HMGB4 | ENST00000681531.1 | c.94C>T | p.Pro32Ser | missense_variant | Exon 1 of 1 | NM_001379301.1 | ENSP00000505691.1 | |||
CSMD2 | ENST00000373381.9 | c.921-17289G>A | intron_variant | Intron 5 of 70 | 1 | NM_001281956.2 | ENSP00000362479.4 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152040Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250662Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135480
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461026Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 726772
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74410
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.94C>T (p.P32S) alteration is located in exon 2 (coding exon 1) of the HMGB4 gene. This alteration results from a C to T substitution at nucleotide position 94, causing the proline (P) at amino acid position 32 to be replaced by a serine (S). 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