chr7-27662716-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152740.4(HIBADH):c.73G>A(p.Ala25Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,216 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A25S) has been classified as Uncertain significance.
Frequency
Consequence
NM_152740.4 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 |
---|---|---|---|---|---|---|---|---|
HIBADH | NM_152740.4 | c.73G>A | p.Ala25Thr | missense_variant | Exon 1 of 8 | ENST00000265395.7 | NP_689953.1 | |
HIBADH | NM_001430749.1 | c.-70G>A | 5_prime_UTR_variant | Exon 1 of 7 | NP_001417678.1 | |||
LOC105375211 | XR_007060268.1 | n.136+10066C>T | intron_variant | Intron 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HIBADH | ENST00000265395.7 | c.73G>A | p.Ala25Thr | missense_variant | Exon 1 of 8 | 1 | NM_152740.4 | ENSP00000265395.2 | ||
HIBADH | ENST00000428288.2 | n.73G>A | non_coding_transcript_exon_variant | Exon 1 of 7 | 3 | ENSP00000393365.1 | ||||
HIBADH | ENST00000496814.1 | n.142G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1222484Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 593430
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at