rs281860621
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM1BP4_Moderate
The NM_000517.6(HBA2):c.72G>T(p.Glu24Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts 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. E24K) has been classified as Uncertain significance.
Frequency
Consequence
NM_000517.6 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA2 | NM_000517.6 | c.72G>T | p.Glu24Asp | missense_variant | 1/3 | ENST00000251595.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA2 | ENST00000251595.11 | c.72G>T | p.Glu24Asp | missense_variant | 1/3 | 1 | NM_000517.6 | P1 | |
HBA2 | ENST00000484216.1 | c.42G>T | p.Glu14Asp | missense_variant | 1/2 | 1 | |||
HBA2 | ENST00000482565.1 | n.91G>T | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA2 | ENST00000397806.1 | c.-2+26G>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 2
GnomAD4 exome Cov.: 0
GnomAD4 genome ? Cov.: 2
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at