rs111264741
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The ENST00000484216.1(HBA2):āc.334A>Gā(p.Arg112Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000439 in 1,604,758 control chromosomes in the GnomAD database, including 97 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/5 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
ENST00000484216.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBA2 | NM_000517.6 | c.300+64A>G | intron_variant | ENST00000251595.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBA2 | ENST00000484216.1 | c.334A>G | p.Arg112Gly | missense_variant | 2/2 | 1 | |||
HBA2 | ENST00000251595.11 | c.300+64A>G | intron_variant | 1 | NM_000517.6 | P1 | |||
HBA2 | ENST00000482565.1 | n.436+64A>G | intron_variant, non_coding_transcript_variant | 1 | |||||
HBA2 | ENST00000397806.1 | c.204+64A>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00241 AC: 357AN: 147838Hom.: 45 Cov.: 25
GnomAD4 exome AF: 0.000238 AC: 346AN: 1456810Hom.: 52 Cov.: 33 AF XY: 0.000174 AC XY: 126AN XY: 724550
GnomAD4 genome ? AF: 0.00242 AC: 358AN: 147948Hom.: 45 Cov.: 25 AF XY: 0.00239 AC XY: 173AN XY: 72336
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | Quest Diagnostics Nichols Institute San Juan Capistrano | Sep 02, 2017 | - - |
Likely benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Mar 19, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at