rs1522232

Positions:

• chr12-24241438-T-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000668875.1(SOX5-AS1):​n.583+1871T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.468 in 151,950 control chromosomes in the GnomAD database, including 17,206 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.47 (17206 hom., cov: 32)
• Consequence: SOX5-AS1 ENST00000668875.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0560

Genes affected

SOX5-AS1 (HGNC:53311): (SOX5 antisense RNA 1)

SOX5 (HGNC:11201): (SRY-box transcription factor 5) This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.516 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SOX5	NM_001261414.3	c.-76-28021A>G		intron_variant			NP_001248343.1
SOX5	NM_152989.5	c.-2+35778A>G		intron_variant			NP_694534.1
SOX5	XM_011520835.3	c.-2+35778A>G		intron_variant			XP_011519137.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SOX5-AS1	ENST00000668875.1	n.583+1871T>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.468 AC: 71077 AN: 151832 Hom.: 17197 Cov.: 32

Gnomad AFR AF: 0.394

Gnomad AMI AF: 0.457

Gnomad AMR AF: 0.455

Gnomad ASJ AF: 0.489

Gnomad EAS AF: 0.226

Gnomad SAS AF: 0.353

Gnomad FIN AF: 0.610

Gnomad MID AF: 0.389

Gnomad NFE AF: 0.521

Gnomad OTH AF: 0.453

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.468 AC: 71111 AN: 151950 Hom.: 17206 Cov.: 32 AF XY: 0.468 AC XY: 34761 AN XY: 74238

Gnomad4 AFR AF: 0.394

Gnomad4 AMR AF: 0.456

Gnomad4 ASJ AF: 0.489

Gnomad4 EAS AF: 0.225

Gnomad4 SAS AF: 0.352

Gnomad4 FIN AF: 0.610

Gnomad4 NFE AF: 0.521

Gnomad4 OTH AF: 0.447

Alfa AF: 0.501 Hom.: 42046

Bravo AF: 0.454

Asia WGS AF: 0.275 AC: 957 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	5.2
DANN	Benign	0.86

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1522232; hg19: chr12-24394372;