chr17-48614289-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024016.4(HOXB8):c.416G>A(p.Arg139His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000294 in 1,361,564 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024016.4 missense
Scores
Clinical Significance
Conservation
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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 |
---|---|---|---|---|---|---|---|---|---|---|
HOXB8 | ENST00000239144.5 | c.416G>A | p.Arg139His | missense_variant | Exon 1 of 2 | 2 | NM_024016.4 | ENSP00000239144.4 | ||
HOXB8 | ENST00000576562.1 | c.416G>A | p.Arg139His | missense_variant | Exon 1 of 2 | 2 | ENSP00000460659.1 | |||
HOXB7 | ENST00000567101.2 | n.60-6194G>A | intron_variant | Intron 1 of 1 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000294 AC: 4AN: 1361564Hom.: 0 Cov.: 38 AF XY: 0.00000299 AC XY: 2AN XY: 669384
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.416G>A (p.R139H) alteration is located in exon 1 (coding exon 1) of the HOXB8 gene. This alteration results from a G to A substitution at nucleotide position 416, causing the arginine (R) at amino acid position 139 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