7-3808401-C-G

Position:

• chr7-3808401-C-G

Variant summary

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

The NM_152744.4(SDK1):​c.714-13049C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.128 in 152,170 control chromosomes in the GnomAD database, including 2,191 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 0.13 (2191 hom., cov: 32)
• Consequence: SDK1 NM_152744.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0890

Genes affected

SDK1 (HGNC:19307): (sidekick cell adhesion molecule 1) The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.301 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SDK1	NM_152744.4	c.714-13049C>G		intron_variant		ENST00000404826.7	NP_689957.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SDK1	ENST00000404826.7	c.714-13049C>G		intron_variant		1	NM_152744.4	ENSP00000385899	P2
SDK1	ENST00000389531.7	c.714-13049C>G		intron_variant		5		ENSP00000374182	A2

Frequencies

GnomAD3 genomes AF: 0.127 AC: 19376 AN: 152052 Hom.: 2184 Cov.: 32

Gnomad AFR AF: 0.306

Gnomad AMI AF: 0.0154

Gnomad AMR AF: 0.0762

Gnomad ASJ AF: 0.0495

Gnomad EAS AF: 0.0464

Gnomad SAS AF: 0.0573

Gnomad FIN AF: 0.0579

Gnomad MID AF: 0.0696

Gnomad NFE AF: 0.0588

Gnomad OTH AF: 0.111

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

GnomAD4 genome AF: 0.128 AC: 19415 AN: 152170 Hom.: 2191 Cov.: 32 AF XY: 0.125 AC XY: 9330 AN XY: 74388

Gnomad4 AFR AF: 0.306

Gnomad4 AMR AF: 0.0760

Gnomad4 ASJ AF: 0.0495

Gnomad4 EAS AF: 0.0463

Gnomad4 SAS AF: 0.0563

Gnomad4 FIN AF: 0.0579

Gnomad4 NFE AF: 0.0588

Gnomad4 OTH AF: 0.113

Alfa AF: 0.0436 Hom.: 43

Bravo AF: 0.136

Asia WGS AF: 0.0680 AC: 236 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	4.6
DANN	Benign	0.47

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: rs7806241; hg19: chr7-3848033;