chr8-96504756-T-C

Variant names:

• chr8-96504756-T-C
• rs2582814
• NM_002998.4:c.60+10425T>C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_002998.4(SDC2):​c.60+10425T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.2 in 152,234 control chromosomes in the GnomAD database, including 3,731 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 0.20 (3731 hom., cov: 33)
• Consequence: SDC2 NM_002998.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.518
• Publications: 3 publications found

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

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.513 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_002998.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SDC2	NM_002998.4	MANE Select	c.60+10425T>C		intron	N/A	NP_002989.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SDC2	ENST00000302190.9	TSL:1 MANE Select	c.60+10425T>C		intron	N/A	ENSP00000307046.4
	SDC2	ENST00000522911.5	TSL:3	c.-28+10713T>C		intron	N/A	ENSP00000427784.1
	SDC2	ENST00000518385.5	TSL:5	c.64+10421T>C		intron	N/A	ENSP00000429045.1

Frequencies

GnomAD3 genomes AF: 0.200 AC: 30365 AN: 152116 Hom.: 3731 Cov.: 33

Gnomad AFR AF: 0.158

Gnomad AMI AF: 0.240

Gnomad AMR AF: 0.355

Gnomad ASJ AF: 0.259

Gnomad EAS AF: 0.530

Gnomad SAS AF: 0.338

Gnomad FIN AF: 0.162

Gnomad MID AF: 0.304

Gnomad NFE AF: 0.157

Gnomad OTH AF: 0.211

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

GnomAD4 genome AF: 0.200 AC: 30377 AN: 152234 Hom.: 3731 Cov.: 33 AF XY: 0.207 AC XY: 15424 AN XY: 74424

African (AFR) AF: 0.158 AC: 6558 AN: 41544

American (AMR) AF: 0.355 AC: 5426 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.259 AC: 897 AN: 3468

East Asian (EAS) AF: 0.529 AC: 2740 AN: 5178

South Asian (SAS) AF: 0.337 AC: 1628 AN: 4826

European-Finnish (FIN) AF: 0.162 AC: 1721 AN: 10602

Middle Eastern (MID) AF: 0.313 AC: 92 AN: 294

European-Non Finnish (NFE) AF: 0.157 AC: 10653 AN: 68020

Other (OTH) AF: 0.210 AC: 444 AN: 2116

Alfa AF: 0.175 Hom.: 11691

Bravo AF: 0.212

Asia WGS AF: 0.362 AC: 1259 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	3.0
DANN	Benign	0.78
PhyloP100		-0.52
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs2582814; hg19: chr8-97516984;