6-117550673-G-A

Variant names:

• chr6-117550673-G-A
• rs9285425
• ENST00000296955.12:c.1615+5076G>A

Variant summary

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

The ENST00000296955.12(DCBLD1):​c.1615+5076G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.452 in 151,990 control chromosomes in the GnomAD database, including 16,450 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 0.45 (16450 hom., cov: 32)
• Consequence: DCBLD1 ENST00000296955.12 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.266
• Publications: 16 publications found

Genes affected

DCBLD1 (HGNC:21479): (discoidin, CUB and LCCL domain containing 1) Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000282218 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.66).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.608 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DCBLD1	NM_173674.3	c.1615+5076G>A		intron_variant	Intron 14 of 14		NP_775945.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DCBLD1	ENST00000296955.12	c.1615+5076G>A		intron_variant	Intron 14 of 14	1		ENSP00000296955.8
ENSG00000282218	ENST00000467125.1	c.547+16181C>T		intron_variant	Intron 4 of 6	2		ENSP00000487717.1
DCBLD1	ENST00000533453.5	n.3345+5076G>A		intron_variant	Intron 10 of 10	1

Frequencies

GnomAD3 genomes AF: 0.452 AC: 68668 AN: 151872 Hom.: 16456 Cov.: 32

Gnomad AFR AF: 0.341

Gnomad AMI AF: 0.654

Gnomad AMR AF: 0.424

Gnomad ASJ AF: 0.412

Gnomad EAS AF: 0.207

Gnomad SAS AF: 0.626

Gnomad FIN AF: 0.643

Gnomad MID AF: 0.433

Gnomad NFE AF: 0.502

Gnomad OTH AF: 0.457

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

GnomAD4 genome AF: 0.452 AC: 68693 AN: 151990 Hom.: 16450 Cov.: 32 AF XY: 0.459 AC XY: 34120 AN XY: 74300

African (AFR) AF: 0.340 AC: 14100 AN: 41434

American (AMR) AF: 0.424 AC: 6470 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.412 AC: 1431 AN: 3470

East Asian (EAS) AF: 0.208 AC: 1074 AN: 5162

South Asian (SAS) AF: 0.626 AC: 3017 AN: 4818

European-Finnish (FIN) AF: 0.643 AC: 6794 AN: 10572

Middle Eastern (MID) AF: 0.438 AC: 128 AN: 292

European-Non Finnish (NFE) AF: 0.502 AC: 34123 AN: 67940

Other (OTH) AF: 0.454 AC: 960 AN: 2114

Alfa AF: 0.471 Hom.: 26670

Bravo AF: 0.425

Asia WGS AF: 0.419 AC: 1459 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.66
CADD	Benign	11
DANN	Benign	0.86
PhyloP100		0.27
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: rs9285425; hg19: chr6-117871836; COSMIC: COSV51645677; COSMIC: COSV51645677;