7-27649573-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_152740.4(HIBADH):c.152G>A(p.Gly51Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000341 in 1,613,678 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152740.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HIBADH | NM_152740.4 | c.152G>A | p.Gly51Glu | missense_variant | 2/8 | ENST00000265395.7 | |
LOC105375211 | XR_007060268.1 | n.85+1643C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375211 | XR_927139.3 | n.85+1643C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HIBADH | ENST00000265395.7 | c.152G>A | p.Gly51Glu | missense_variant | 2/8 | 1 | NM_152740.4 | P1 | |
HIBADH | ENST00000496814.1 | n.221G>A | non_coding_transcript_exon_variant | 2/2 | 3 | ||||
HIBADH | ENST00000428288.2 | c.91+13125G>A | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251358Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135856
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461596Hom.: 0 Cov.: 30 AF XY: 0.0000316 AC XY: 23AN XY: 727104
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152082Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74284
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at