rs144625073
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002144.4(HOXB1):āc.484G>Cā(p.Glu162Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000235 in 1,613,972 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002144.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251382Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135862
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461866Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 727230
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at