OASL p.Ser503Ser

Variant names:

• chr12-121020596-T-T
• NM_003733.4:c.

Your query was ambiguous. Multiple possible variants found:

• chr12-121020597--
• chr12-121020597-C-A
• chr12-121020597-C-G
• chr12-121020597-C-T
• chr12-121020597-CGA-ACT
• chr12-121020597-CGA-GCT

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_003733.4(OASL):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: OASL NM_003733.4 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.509
• Publications: 0 publications found

Genes affected

OASL (HGNC:8090): (2'-5'-oligoadenylate synthetase like) Enables DNA binding activity and double-stranded RNA binding activity. Involved in several processes, including interleukin-27-mediated signaling pathway; negative regulation of viral genome replication; and positive regulation of RIG-I signaling pathway. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_003733.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OASL	NM_003733.4	MANE Select	c.		exon_region	Exon 6 of 6	NP_003724.1	Q15646-1
	OASL	NM_001261825.2		c.		exon_region	Exon 4 of 4	NP_001248754.1	Q15646-3
	OASL	NM_198213.3		c.		exon_region	Exon 5 of 5	NP_937856.1	Q15646-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OASL	ENST00000257570.10	TSL:1 MANE Select	c.		exon_region	Exon 6 of 6	ENSP00000257570.4	Q15646-1
	OASL	ENST00000620239.6	TSL:1	c.		exon_region	Exon 4 of 4	ENSP00000479512.1	Q15646-3
	OASL	ENST00000339275.10	TSL:1	c.		exon_region	Exon 5 of 5	ENSP00000341125.5	Q15646-2

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 32

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.51

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr12-121458399;