rs1984456

Variant names:

• chr8-96554878-G-A
• rs1984456
• NM_002998.4:c.61-38602G>A

Variant summary

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

The NM_002998.4(SDC2):​c.61-38602G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.533 in 151,934 control chromosomes in the GnomAD database, including 23,748 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 0.53 (23748 hom., cov: 32)
• Consequence: SDC2 NM_002998.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.529
• Publications: 5 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]

LOC124900253 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.673 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SDC2	NM_002998.4	c.61-38602G>A		intron_variant	Intron 1 of 4	ENST00000302190.9	NP_002989.2
LOC124900253	XR_007061018.1	n.15039G>A		non_coding_transcript_exon_variant	Exon 2 of 2
SDC2	XM_024447228.2	c.-28+17453G>A		intron_variant	Intron 2 of 5		XP_024302996.1
SDC2	XM_047422076.1	c.-28+17453G>A		intron_variant	Intron 1 of 4		XP_047278032.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SDC2	ENST00000302190.9	c.61-38602G>A		intron_variant	Intron 1 of 4	1	NM_002998.4	ENSP00000307046.4
SDC2	ENST00000522911.5	c.-27-38602G>A		intron_variant	Intron 1 of 4	3		ENSP00000427784.1
SDC2	ENST00000518385.5	c.65-47517G>A		intron_variant	Intron 1 of 3	5		ENSP00000429045.1

Frequencies

GnomAD3 genomes AF: 0.533 AC: 80960 AN: 151816 Hom.: 23750 Cov.: 32

Gnomad AFR AF: 0.300

Gnomad AMI AF: 0.722

Gnomad AMR AF: 0.509

Gnomad ASJ AF: 0.631

Gnomad EAS AF: 0.331

Gnomad SAS AF: 0.482

Gnomad FIN AF: 0.609

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.679

Gnomad OTH AF: 0.575

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

GnomAD4 genome AF: 0.533 AC: 80977 AN: 151934 Hom.: 23748 Cov.: 32 AF XY: 0.528 AC XY: 39169 AN XY: 74228

African (AFR) AF: 0.300 AC: 12423 AN: 41426

American (AMR) AF: 0.509 AC: 7758 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.631 AC: 2189 AN: 3468

East Asian (EAS) AF: 0.332 AC: 1704 AN: 5136

South Asian (SAS) AF: 0.482 AC: 2320 AN: 4816

European-Finnish (FIN) AF: 0.609 AC: 6421 AN: 10546

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.679 AC: 46124 AN: 67976

Other (OTH) AF: 0.575 AC: 1210 AN: 2106

Alfa AF: 0.633 Hom.: 134999

Bravo AF: 0.519

Asia WGS AF: 0.447 AC: 1555 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.72
DANN	Benign	0.50
PhyloP100		-0.53
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: rs1984456; hg19: chr8-97567106;