rs7847271

Variant names:

• chr9-115068533-G-A
• rs7847271
• NM_002160.4:c.3215-3614C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_002160.4(TNC):​c.3215-3614C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.151 in 152,132 control chromosomes in the GnomAD database, including 2,144 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 0.15 (2144 hom., cov: 32)
• Consequence: TNC NM_002160.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.104
• Publications: 15 publications found

Genes affected

TNC (HGNC:5318): (tenascin C) This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011]

DELEC1 (HGNC:23658): (deleted in esophageal cancer 1) The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.258 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_002160.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TNC	NM_002160.4	MANE Select	c.3215-3614C>T		intron	N/A	NP_002151.2
	TNC	NM_001439065.1		c.3215-3614C>T		intron	N/A	NP_001425994.1
	TNC	NM_001439066.1		c.3215-3614C>T		intron	N/A	NP_001425995.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TNC	ENST00000350763.9	TSL:1 MANE Select	c.3215-3614C>T		intron	N/A	ENSP00000265131.4
	TNC	ENST00000423613.6	TSL:1	c.3215-3614C>T		intron	N/A	ENSP00000411406.2
	TNC	ENST00000542877.6	TSL:1	c.3214+5070C>T		intron	N/A	ENSP00000442242.1

Frequencies

GnomAD3 genomes AF: 0.151 AC: 22992 AN: 152014 Hom.: 2143 Cov.: 32

Gnomad AFR AF: 0.262

Gnomad AMI AF: 0.208

Gnomad AMR AF: 0.165

Gnomad ASJ AF: 0.114

Gnomad EAS AF: 0.107

Gnomad SAS AF: 0.0480

Gnomad FIN AF: 0.111

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.0991

Gnomad OTH AF: 0.137

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

GnomAD4 genome AF: 0.151 AC: 23029 AN: 152132 Hom.: 2144 Cov.: 32 AF XY: 0.150 AC XY: 11144 AN XY: 74354

African (AFR) AF: 0.262 AC: 10859 AN: 41490

American (AMR) AF: 0.166 AC: 2534 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.114 AC: 396 AN: 3468

East Asian (EAS) AF: 0.107 AC: 553 AN: 5168

South Asian (SAS) AF: 0.0478 AC: 231 AN: 4828

European-Finnish (FIN) AF: 0.111 AC: 1176 AN: 10588

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.0991 AC: 6740 AN: 67990

Other (OTH) AF: 0.139 AC: 293 AN: 2106

Alfa AF: 0.113 Hom.: 4241

Bravo AF: 0.161

Asia WGS AF: 0.0980 AC: 341 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.8
DANN	Benign	0.48
PhyloP100		-0.10
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs7847271; hg19: chr9-117830812; COSMIC: COSV60779890;