chr16-173274-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 6P and 1B. PM1PM2PP3_ModerateBP6
The NM_000517.6(HBA2):c.245C>T(p.Ser82Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S82P) has been classified as Uncertain significance.
Frequency
Consequence
NM_000517.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 26
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
alpha Thalassemia Benign:1
The patient's blood cell counts were unremarkable: hemoglobin (Hb) 142 g/L, mean corpuscular volume (MCV) 89.7 fL, and mean corpuscular hemoglobin (MCH) 31.1 pg. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at