rs28928882
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000517.6(HBA2):c.219C>A(p.His73Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000771 in 1,297,758 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as other (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H73D) has been classified as Uncertain significance.
Frequency
Consequence
NM_000517.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA2 | NM_000517.6 | c.219C>A | p.His73Gln | missense_variant | 2/3 | ENST00000251595.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA2 | ENST00000251595.11 | c.219C>A | p.His73Gln | missense_variant | 2/3 | 1 | NM_000517.6 | P1 | |
HBA2 | ENST00000484216.1 | c.189C>A | p.His63Gln | missense_variant | 2/2 | 1 | |||
HBA2 | ENST00000482565.1 | n.355C>A | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA2 | ENST00000397806.1 | c.123C>A | p.His41Gln | missense_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD4 exome AF: 7.71e-7 AC: 1AN: 1297758Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 645236
GnomAD4 genome ? Cov.: 22
ClinVar
Submissions by phenotype
HEMOGLOBIN GOUDA Other:1
other, no assertion criteria provided | literature only | OMIM | Jul 20, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at