chr12-112938675-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_006187.4(OAS3):c.145G>A(p.Ala49Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0014 in 1,582,552 control chromosomes in the GnomAD database, including 31 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006187.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OAS3 | NM_006187.4 | c.145G>A | p.Ala49Thr | missense_variant | 1/16 | ENST00000228928.12 | NP_006178.2 | |
OAS3 | NM_001410984.1 | c.145G>A | p.Ala49Thr | missense_variant | 1/16 | NP_001397913.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OAS3 | ENST00000228928.12 | c.145G>A | p.Ala49Thr | missense_variant | 1/16 | 1 | NM_006187.4 | ENSP00000228928 | P3 | |
ENST00000552784.1 | n.354-29997C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.00745 AC: 1134AN: 152232Hom.: 20 Cov.: 34
GnomAD3 exomes AF: 0.00175 AC: 333AN: 190694Hom.: 6 AF XY: 0.00128 AC XY: 135AN XY: 105204
GnomAD4 exome AF: 0.000762 AC: 1090AN: 1430202Hom.: 11 Cov.: 37 AF XY: 0.000643 AC XY: 456AN XY: 709118
GnomAD4 genome AF: 0.00743 AC: 1132AN: 152350Hom.: 20 Cov.: 34 AF XY: 0.00719 AC XY: 536AN XY: 74504
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jun 18, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at