rs35816645
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000558.5(HBA1):c.46G>A(p.Gly16Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000133 in 150,406 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. G16D) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA1 | NM_000558.5 | c.46G>A | p.Gly16Ser | missense_variant | 1/3 | ENST00000320868.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA1 | ENST00000320868.9 | c.46G>A | p.Gly16Ser | missense_variant | 1/3 | 1 | NM_000558.5 | P1 | |
HBA1 | ENST00000472694.1 | n.65G>A | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA1 | ENST00000487791.1 | n.15G>A | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
HBA1 | ENST00000397797.1 | c.-2G>A | splice_region_variant, 5_prime_UTR_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000133 AC: 2AN: 150406Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.00000601 AC: 1AN: 166306Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 89294
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000626 AC: 9AN: 1437124Hom.: 0 Cov.: 27 AF XY: 0.00000280 AC XY: 2AN XY: 713556
GnomAD4 genome ? AF: 0.0000133 AC: 2AN: 150406Hom.: 0 Cov.: 28 AF XY: 0.0000273 AC XY: 2AN XY: 73266
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at