rs7947224

Positions:

• chr11-100002678-T-C

Variant summary

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

The ENST00000524871.6(CNTN5):​c.980+542T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.378 in 151,960 control chromosomes in the GnomAD database, including 12,327 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 0.38 (12327 hom., cov: 32)
• Consequence: CNTN5 ENST00000524871.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.06

Genes affected

CNTN5 (HGNC:2175): (contactin 5) The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

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 = 0.58 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CNTN5	NM_014361.4	c.980+542T>C		intron_variant		ENST00000524871.6	NP_055176.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CNTN5	ENST00000524871.6	c.980+542T>C		intron_variant		1	NM_014361.4	ENSP00000435637	P1

Frequencies

GnomAD3 genomes AF: 0.378 AC: 57327 AN: 151842 Hom.: 12311 Cov.: 32

Gnomad AFR AF: 0.586

Gnomad AMI AF: 0.416

Gnomad AMR AF: 0.314

Gnomad ASJ AF: 0.381

Gnomad EAS AF: 0.112

Gnomad SAS AF: 0.307

Gnomad FIN AF: 0.259

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.308

Gnomad OTH AF: 0.367

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

GnomAD4 genome AF: 0.378 AC: 57385 AN: 151960 Hom.: 12327 Cov.: 32 AF XY: 0.371 AC XY: 27594 AN XY: 74278

Gnomad4 AFR AF: 0.586

Gnomad4 AMR AF: 0.314

Gnomad4 ASJ AF: 0.381

Gnomad4 EAS AF: 0.112

Gnomad4 SAS AF: 0.306

Gnomad4 FIN AF: 0.259

Gnomad4 NFE AF: 0.308

Gnomad4 OTH AF: 0.365

Alfa AF: 0.350 Hom.: 1215

Bravo AF: 0.391

Asia WGS AF: 0.237 AC: 823 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.027
DANN	Benign	0.37

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: rs7947224; hg19: chr11-99873410;