rs10510207

chr3-1292846-G-T

Variant summary

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

The NM_001289080.2(CNTN6):c.455-2755G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0974 in 152,034 control chromosomes in the GnomAD database, including 813 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 0.097 (813 hom., cov: 32)
• Consequence: CNTN6 NM_001289080.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.29

Genes affected

CNTN6 (HGNC:2176): (contactin 6) The protein encoded by this gene is a member of the immunoglobulin superfamily. It 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

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 = 0.151 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CNTN6	NM_001289080.2	c.455-2755G>T		intron_variant		ENST00000446702.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CNTN6	ENST00000446702.7	c.455-2755G>T		intron_variant		1	NM_001289080.2	P1
CNTN6	ENST00000350110.2	c.455-2755G>T		intron_variant		1		P1
CNTN6	ENST00000394261.2	c.*433-2755G>T		intron_variant, NMD_transcript_variant		1
CNTN6	ENST00000397479.6	c.*593-2755G>T		intron_variant, NMD_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.0974 AC: 14789 AN: 151914 Hom.: 812 Cov.: 32

Gnomad AFR AF: 0.154

Gnomad AMI AF: 0.111

Gnomad AMR AF: 0.0630

Gnomad ASJ AF: 0.0810

Gnomad EAS AF: 0.123

Gnomad SAS AF: 0.0388

Gnomad FIN AF: 0.0556

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.0807

Gnomad OTH AF: 0.0856

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

GnomAD4 genome AF: 0.0974 AC: 14812 AN: 152034 Hom.: 813 Cov.: 32 AF XY: 0.0950 AC XY: 7059 AN XY: 74334

Gnomad4 AFR AF: 0.154

Gnomad4 AMR AF: 0.0629

Gnomad4 ASJ AF: 0.0810

Gnomad4 EAS AF: 0.123

Gnomad4 SAS AF: 0.0391

Gnomad4 FIN AF: 0.0556

Gnomad4 NFE AF: 0.0807

Gnomad4 OTH AF: 0.0871

Alfa AF: 0.0811 Hom.: 764

Bravo AF: 0.102

Asia WGS AF: 0.0860 AC: 297 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	6.5
Dann	Benign	0.60

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: rs10510207; hg19: chr3-1334530;