chr3-181711518-A-T

Position:

• chr3-181711518-A-T

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_Strong BS2

The ENST00000466034.7(SOX2-OT):​n.349+11635A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00278 in 151,858 control chromosomes in the GnomAD database, including 4 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 0.0028 (4 hom., cov: 31)
• Consequence: SOX2-OT ENST00000466034.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.190

Genes affected

SOX2-OT (HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.55).
• BS2: High Homozygotes in GnomAd4 at 4 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SOX2-OT	NR_004053.3	n.768-3667A>T		intron_variant
SOX2-OT	NR_075089.1	n.767+11635A>T		intron_variant
SOX2-OT	NR_075090.1	n.482-28051A>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SOX2-OT	ENST00000466034.7	n.349+11635A>T		intron_variant		1
SOX2-OT	ENST00000476964.6	n.482-28051A>T		intron_variant		1
SOX2-OT	ENST00000491282.6	n.593+11635A>T		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.00279 AC: 423 AN: 151742 Hom.: 4 Cov.: 31

Gnomad AFR AF: 0.0000969

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000787

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.0152

Gnomad MID AF: 0.00316

Gnomad NFE AF: 0.00355

Gnomad OTH AF: 0.00192

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

GnomAD4 genome AF: 0.00278 AC: 422 AN: 151858 Hom.: 4 Cov.: 31 AF XY: 0.00334 AC XY: 248 AN XY: 74212

Gnomad4 AFR AF: 0.0000966

Gnomad4 AMR AF: 0.000786

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.0152

Gnomad4 NFE AF: 0.00355

Gnomad4 OTH AF: 0.00190

Alfa AF: 0.00625 Hom.: 4

Bravo AF: 0.00130

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.55
CADD	Benign	9.1
DANN	Benign	0.84

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs35095647; hg19: chr3-181429306;