rs33946121
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000558.5(HBA1):c.92A>C(p.Glu31Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. E31K) has been classified as Likely benign.
Frequency
Consequence
NM_000558.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA1 | NM_000558.5 | c.92A>C | p.Glu31Ala | missense_variant | 1/3 | ENST00000320868.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA1 | ENST00000320868.9 | c.92A>C | p.Glu31Ala | missense_variant | 1/3 | 1 | NM_000558.5 | P1 | |
HBA1 | ENST00000472694.1 | n.111A>C | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA1 | ENST00000487791.1 | n.61A>C | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA1 | ENST00000397797.1 | c.-2+46A>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 28
GnomAD4 exome Cov.: 24
GnomAD4 genome ? Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at