rs34068598
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000558.5(HBA1):c.166G>A(p.Val56Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. 11/19 in silico tools predict a benign 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. V56L) has been classified as Uncertain significance.
Frequency
Consequence
NM_000558.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA1 | NM_000558.5 | c.166G>A | p.Val56Ile | missense_variant | 2/3 | ENST00000320868.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA1 | ENST00000320868.9 | c.166G>A | p.Val56Ile | missense_variant | 2/3 | 1 | NM_000558.5 | P1 | |
HBA1 | ENST00000472694.1 | n.302G>A | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA1 | ENST00000487791.1 | n.135G>A | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
HBA1 | ENST00000397797.1 | c.70G>A | p.Val24Ile | missense_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1AN: 149350Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 8.61e-7 AC: 1AN: 1162080Hom.: 0 Cov.: 17 AF XY: 0.00000171 AC XY: 1AN XY: 585174
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000670 AC: 1AN: 149350Hom.: 0 Cov.: 31 AF XY: 0.0000137 AC XY: 1AN XY: 72792
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at