rs828621

Positions:

• chr3-98824818-T-A
• chr3-98824818-T-C
• chr3-98824818-T-G

Variant summary

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

The NM_080927.4(DCBLD2):​c.623+497A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.361 in 151,810 control chromosomes in the GnomAD database, including 11,010 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 0.36 (11010 hom., cov: 31)
• Consequence: DCBLD2 NM_080927.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.702

Genes affected

DCBLD2 (HGNC:24627): (discoidin, CUB and LCCL domain containing 2) Involved in negative regulation of cell growth and wound healing. Located in cell surface. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

DCBLD2 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.694 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DCBLD2	NM_080927.4	c.623+497A>T		intron_variant		ENST00000326840.11	NP_563615.3
DCBLD2	XM_011512419.3	c.395+497A>T		intron_variant			XP_011510721.1
DCBLD2	XM_024453348.2	c.305+497A>T		intron_variant			XP_024309116.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DCBLD2	ENST00000326840.11	c.623+497A>T		intron_variant		1	NM_080927.4	ENSP00000321573.6
DCBLD2	ENST00000326857.9	c.623+497A>T		intron_variant		1		ENSP00000321646.9
DCBLD2	ENST00000469648.5	n.458+497A>T		intron_variant		3

Frequencies

GnomAD3 genomes AF: 0.361 AC: 54754 AN: 151692 Hom.: 11004 Cov.: 31

Gnomad AFR AF: 0.192

Gnomad AMI AF: 0.390

Gnomad AMR AF: 0.473

Gnomad ASJ AF: 0.390

Gnomad EAS AF: 0.714

Gnomad SAS AF: 0.458

Gnomad FIN AF: 0.435

Gnomad MID AF: 0.408

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.385

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

GnomAD4 genome AF: 0.361 AC: 54772 AN: 151810 Hom.: 11010 Cov.: 31 AF XY: 0.366 AC XY: 27161 AN XY: 74174

Gnomad4 AFR AF: 0.192

Gnomad4 AMR AF: 0.474

Gnomad4 ASJ AF: 0.390

Gnomad4 EAS AF: 0.713

Gnomad4 SAS AF: 0.458

Gnomad4 FIN AF: 0.435

Gnomad4 NFE AF: 0.391

Gnomad4 OTH AF: 0.390

Alfa AF: 0.235 Hom.: 573

Bravo AF: 0.361

Asia WGS AF: 0.574 AC: 1992 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.14
DANN	Benign	0.74

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: rs828621; hg19: chr3-98543662;