rs36062788
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000558.5(HBA1):c.173G>A(p.Gly58Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000852 in 1,174,256 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. G58R) has been classified as Uncertain significance.
Frequency
Consequence
NM_000558.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA1 | NM_000558.5 | c.173G>A | p.Gly58Asp | missense_variant | 2/3 | ENST00000320868.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA1 | ENST00000320868.9 | c.173G>A | p.Gly58Asp | missense_variant | 2/3 | 1 | NM_000558.5 | P1 | |
HBA1 | ENST00000472694.1 | n.309G>A | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA1 | ENST00000487791.1 | n.142G>A | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
HBA1 | ENST00000397797.1 | c.77G>A | p.Gly26Asp | missense_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 8.52e-7 AC: 1AN: 1174256Hom.: 0 Cov.: 17 AF XY: 0.00 AC XY: 0AN XY: 590232
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
HEMOGLOBIN J (NORFOLK) Other:1
other, no assertion criteria provided | literature only | OMIM | Mar 10, 1984 | - - |
HEMOGLOBIN KAGOSHIMA Other:1
other, no assertion criteria provided | literature only | OMIM | Mar 10, 1984 | - - |
HEMOGLOBIN NORFOLK Other:1
other, no assertion criteria provided | literature only | OMIM | Mar 10, 1984 | - - |
HEMOGLOBIN NISHIK Other:1
other, no assertion criteria provided | literature only | OMIM | Mar 10, 1984 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at