rs281864805
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_000517.6(HBA2):c.20A>C(p.Asp7Ala) variant causes a missense change. 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 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. D7N) has been classified as Likely benign.
Frequency
Consequence
NM_000517.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA2 | NM_000517.6 | c.20A>C | p.Asp7Ala | missense_variant | 1/3 | ENST00000251595.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA2 | ENST00000251595.11 | c.20A>C | p.Asp7Ala | missense_variant | 1/3 | 1 | NM_000517.6 | P1 | |
HBA2 | ENST00000482565.1 | n.39A>C | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA2 | ENST00000397806.1 | c.-28A>C | 5_prime_UTR_variant | 1/3 | 2 | ||||
HBA2 | ENST00000484216.1 | upstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 0
GnomAD4 exome Cov.: 0
GnomAD4 genome ? Cov.: 0
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at