8-96591950-G-C

Position:

• chr8-96591950-G-C

Variant summary

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

The NM_002998.4(SDC2):​c.61-1530G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.188 in 152,086 control chromosomes in the GnomAD database, including 3,246 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 0.19 (3246 hom., cov: 32)
• Consequence: SDC2 NM_002998.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.587

Genes affected

SDC2 (HGNC:10659): (syndecan 2) The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.341 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SDC2	NM_002998.4	c.61-1530G>C		intron_variant		ENST00000302190.9	NP_002989.2
SDC2	XM_011517212.4	c.-27-1530G>C		intron_variant			XP_011515514.1
SDC2	XM_024447228.2	c.-27-1530G>C		intron_variant			XP_024302996.1
SDC2	XM_047422076.1	c.-27-1530G>C		intron_variant			XP_047278032.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SDC2	ENST00000302190.9	c.61-1530G>C		intron_variant		1	NM_002998.4	ENSP00000307046	P1

Frequencies

GnomAD3 genomes AF: 0.188 AC: 28633 AN: 151968 Hom.: 3247 Cov.: 32

Gnomad AFR AF: 0.0628

Gnomad AMI AF: 0.222

Gnomad AMR AF: 0.165

Gnomad ASJ AF: 0.218

Gnomad EAS AF: 0.342

Gnomad SAS AF: 0.355

Gnomad FIN AF: 0.287

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.230

Gnomad OTH AF: 0.177

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

GnomAD4 genome AF: 0.188 AC: 28635 AN: 152086 Hom.: 3246 Cov.: 32 AF XY: 0.195 AC XY: 14477 AN XY: 74318

Gnomad4 AFR AF: 0.0629

Gnomad4 AMR AF: 0.165

Gnomad4 ASJ AF: 0.218

Gnomad4 EAS AF: 0.341

Gnomad4 SAS AF: 0.355

Gnomad4 FIN AF: 0.287

Gnomad4 NFE AF: 0.230

Gnomad4 OTH AF: 0.176

Alfa AF: 0.210 Hom.: 449

Bravo AF: 0.169

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	3.3
DANN	Benign	0.66

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs2028086; hg19: chr8-97604178;