rs35213748
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_000558.5(HBA1):c.175C>T(p.His59Tyr) variant causes a missense change. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as other (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H59Q) has been classified as Likely benign.
Frequency
Consequence
NM_000558.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA1 | NM_000558.5 | c.175C>T | p.His59Tyr | missense_variant | 2/3 | ENST00000320868.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA1 | ENST00000320868.9 | c.175C>T | p.His59Tyr | missense_variant | 2/3 | 1 | NM_000558.5 | P1 | |
HBA1 | ENST00000472694.1 | n.311C>T | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA1 | ENST00000487791.1 | n.144C>T | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
HBA1 | ENST00000397797.1 | c.79C>T | p.His27Tyr | missense_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 17
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
HEMOGLOBIN M (OSAKA) Other:1
other, no assertion criteria provided | literature only | OMIM | May 10, 2018 | - - |
HEMOGLOBIN M (BOSTON) Other:1
other, no assertion criteria provided | literature only | OMIM | May 10, 2018 | - - |
HEMOGLOBIN M (KISKUNHALAS) Other:1
other, no assertion criteria provided | literature only | OMIM | May 10, 2018 | - - |
HEMOGLOBIN M (GOTHENBURG) Other:1
other, no assertion criteria provided | literature only | OMIM | May 10, 2018 | - - |
HEMOGLOBIN GOTHENBURG Other:1
other, no assertion criteria provided | literature only | OMIM | May 10, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at