rs1422930

chr5-167970588-C-T

Variant summary

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

The NM_001395460.1(TENM2):c.947+17766C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.339 in 152,022 control chromosomes in the GnomAD database, including 10,659 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 0.34 (10659 hom., cov: 32)
• Consequence: TENM2 NM_001395460.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0330

Genes affected

TENM2 (HGNC:29943): (teneurin transmembrane protein 2) Enables cell adhesion molecule binding activity and signaling receptor binding activity. Involved in several processes, including calcium-mediated signaling using intracellular calcium source; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and retrograde trans-synaptic signaling by trans-synaptic protein complex. Located in cell-cell junction and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.65 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
TENM2	NM_001395460.1	c.947+17766C>T		intron_variant		ENST00000518659.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
TENM2	ENST00000518659.6	c.947+17766C>T		intron_variant		5	NM_001395460.1	P1

Frequencies

GnomAD3 genomes AF: 0.339 AC: 51519 AN: 151906 Hom.: 10633 Cov.: 32

Gnomad AFR AF: 0.517

Gnomad AMI AF: 0.0943

Gnomad AMR AF: 0.439

Gnomad ASJ AF: 0.183

Gnomad EAS AF: 0.668

Gnomad SAS AF: 0.451

Gnomad FIN AF: 0.212

Gnomad MID AF: 0.266

Gnomad NFE AF: 0.208

Gnomad OTH AF: 0.312

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

GnomAD4 genome AF: 0.339 AC: 51598 AN: 152022 Hom.: 10659 Cov.: 32 AF XY: 0.346 AC XY: 25691 AN XY: 74326

Gnomad4 AFR AF: 0.517

Gnomad4 AMR AF: 0.440

Gnomad4 ASJ AF: 0.183

Gnomad4 EAS AF: 0.668

Gnomad4 SAS AF: 0.452

Gnomad4 FIN AF: 0.212

Gnomad4 NFE AF: 0.208

Gnomad4 OTH AF: 0.318

Alfa AF: 0.275 Hom.: 894

Bravo AF: 0.367

Asia WGS AF: 0.547 AC: 1902 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
Cadd	Benign	3.5
Dann	Benign	0.75

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: rs1422930; hg19: chr5-167397593;