rs267607269
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000517.6(HBA2):c.344C>G(p.Pro115Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P115L) has been classified as Likely benign.
Frequency
Consequence
NM_000517.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HBA2 | NM_000517.6 | c.344C>G | p.Pro115Arg | missense_variant | 3/3 | ENST00000251595.11 | NP_000508.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HBA2 | ENST00000251595.11 | c.344C>G | p.Pro115Arg | missense_variant | 3/3 | 1 | NM_000517.6 | ENSP00000251595 | P1 | |
HBA2 | ENST00000482565.1 | n.480C>G | non_coding_transcript_exon_variant | 2/2 | 1 | |||||
ENST00000702607.1 | n.146G>C | non_coding_transcript_exon_variant | 1/1 | |||||||
HBA2 | ENST00000397806.1 | c.248C>G | p.Pro83Arg | missense_variant | 3/3 | 2 | ENSP00000380908 |
Frequencies
GnomAD3 genomes Cov.: 25
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 25
ClinVar
Submissions by phenotype
HBA2-related disorder Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 29, 2024 | The HBA2 c.344C>G variant is predicted to result in the amino acid substitution p.Pro115Arg. This variant is also known as Hb Chiapas or p.Pro114Arg using legacy nomenclature. Individuals carrying this variant were described as clinically normal (Lisker et al. 1966. PubMed ID: 5945763; Jones et al. 1968. PubMed ID: 5650416; Ibarra et al. 1981. PubMed ID: 7319830). This variant has not been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at