rs33970907
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_000559.3(HBG1):c.68A>T(p.Asp23Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/19 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. D23G) has been classified as Uncertain significance.
Frequency
Consequence
NM_000559.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBG1 | NM_000559.3 | c.68A>T | p.Asp23Val | missense_variant | 1/3 | ENST00000330597.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBG1 | ENST00000330597.5 | c.68A>T | p.Asp23Val | missense_variant | 1/3 | 1 | NM_000559.3 | P1 | |
HBG1 | ENST00000632727.1 | c.54+14A>T | intron_variant | 3 | |||||
HBG1 | ENST00000648735.1 | n.119A>T | non_coding_transcript_exon_variant | 1/2 |
Frequencies
GnomAD3 genomes Cov.: 4
GnomAD4 exome Cov.: 0
GnomAD4 genome Cov.: 4
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at