rs281864869
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_000517.6(HBA2):c.265G>A(p.Ala89Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000013 in 1,537,160 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. A89V) has been classified as Pathogenic.
Frequency
Consequence
NM_000517.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA2 | NM_000517.6 | c.265G>A | p.Ala89Thr | missense_variant | 2/3 | ENST00000251595.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA2 | ENST00000251595.11 | c.265G>A | p.Ala89Thr | missense_variant | 2/3 | 1 | NM_000517.6 | P1 | |
HBA2 | ENST00000484216.1 | c.235G>A | p.Ala79Thr | missense_variant | 2/2 | 1 | |||
HBA2 | ENST00000482565.1 | n.401G>A | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA2 | ENST00000397806.1 | c.169G>A | p.Ala57Thr | missense_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000699 AC: 1AN: 143110Hom.: 0 Cov.: 24
GnomAD4 exome AF: 7.17e-7 AC: 1AN: 1394050Hom.: 0 Cov.: 27 AF XY: 0.00000144 AC XY: 1AN XY: 692368
GnomAD4 genome ? AF: 0.00000699 AC: 1AN: 143110Hom.: 0 Cov.: 24 AF XY: 0.0000144 AC XY: 1AN XY: 69640
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at