rs41457351
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_000517.6(HBA2):c.335C>T(p.Ala112Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000311 in 1,606,462 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000517.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA2 | NM_000517.6 | c.335C>T | p.Ala112Val | missense_variant | 3/3 | ENST00000251595.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA2 | ENST00000251595.11 | c.335C>T | p.Ala112Val | missense_variant | 3/3 | 1 | NM_000517.6 | P1 | |
ENST00000702607.1 | n.155G>A | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.0000135 AC: 2AN: 147934Hom.: 0 Cov.: 25
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246972Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134158
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1458528Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 725362
GnomAD4 genome AF: 0.0000135 AC: 2AN: 147934Hom.: 0 Cov.: 25 AF XY: 0.0000277 AC XY: 2AN XY: 72206
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at