rs41330850
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000559.3(HBG1):c.385G>T(p.Ala129Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. A129T) has been classified as Uncertain significance.
Frequency
Consequence
NM_000559.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBG1 | NM_000559.3 | c.385G>T | p.Ala129Ser | missense_variant | 3/3 | ENST00000330597.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBG1 | ENST00000330597.5 | c.385G>T | p.Ala129Ser | missense_variant | 3/3 | 1 | NM_000559.3 | P1 | |
HBG1 | ENST00000648735.1 | n.1316G>T | non_coding_transcript_exon_variant | 2/2 | |||||
HBG1 | ENST00000632727.1 | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461828Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 727232
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at