NM_000517.6:c.197C>T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PP3_Moderate
The NM_000517.6(HBA2):c.197C>T(p.Ala66Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A66T) has been classified as Uncertain significance.
Frequency
Consequence
NM_000517.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HBA2 | ENST00000251595.11 | c.197C>T | p.Ala66Val | missense_variant | Exon 2 of 3 | 1 | NM_000517.6 | ENSP00000251595.6 | ||
HBA2 | ENST00000484216.1 | c.164C>T | p.Ala55Val | missense_variant | Exon 2 of 2 | 1 | ENSP00000495899.1 | |||
HBA2 | ENST00000482565.1 | n.333C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 1 | |||||
HBA2 | ENST00000397806.1 | c.101C>T | p.Ala34Val | missense_variant | Exon 2 of 3 | 2 | ENSP00000380908.1 |
Frequencies
GnomAD3 genomes Cov.: 20
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1171778Hom.: 0 Cov.: 17 AF XY: 0.00 AC XY: 0AN XY: 586764
GnomAD4 genome Cov.: 20
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at