rs7931512

Positions:

• chr11-79309244-A-G
• chr11-79309244-A-T

Variant summary

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

The NM_001098816.3(TENM4):​c.-320-11701T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.238 in 152,216 control chromosomes in the GnomAD database, including 4,627 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 0.24 (4627 hom., cov: 33)
• Consequence: TENM4 NM_001098816.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.105

Genes affected

TENM4 (HGNC:29945): (teneurin transmembrane protein 4) The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.287 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TENM4	NM_001098816.3	c.-320-11701T>C		intron_variant		ENST00000278550.12	NP_001092286.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TENM4	ENST00000278550.12	c.-320-11701T>C		intron_variant		5	NM_001098816.3	ENSP00000278550	P1
TENM4	ENST00000528688.5	n.240-11701T>C		intron_variant, non_coding_transcript_variant		3
TENM4	ENST00000531583.1	n.441-11701T>C		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.238 AC: 36261 AN: 152098 Hom.: 4624 Cov.: 33

Gnomad AFR AF: 0.291

Gnomad AMI AF: 0.364

Gnomad AMR AF: 0.161

Gnomad ASJ AF: 0.296

Gnomad EAS AF: 0.00173

Gnomad SAS AF: 0.175

Gnomad FIN AF: 0.213

Gnomad MID AF: 0.215

Gnomad NFE AF: 0.246

Gnomad OTH AF: 0.234

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

GnomAD4 genome AF: 0.238 AC: 36288 AN: 152216 Hom.: 4627 Cov.: 33 AF XY: 0.233 AC XY: 17307 AN XY: 74418

Gnomad4 AFR AF: 0.291

Gnomad4 AMR AF: 0.161

Gnomad4 ASJ AF: 0.296

Gnomad4 EAS AF: 0.00174

Gnomad4 SAS AF: 0.177

Gnomad4 FIN AF: 0.213

Gnomad4 NFE AF: 0.246

Gnomad4 OTH AF: 0.230

Alfa AF: 0.233 Hom.: 5821

Bravo AF: 0.236

Asia WGS AF: 0.119 AC: 413 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.7
DANN	Benign	0.68

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: rs7931512; hg19: chr11-79020289;