rs7116263

Variant names:

• chr11-76015744-C-G
• rs7116263
• NM_003369.4:c.1061-1071C>G

Your query was ambiguous. Multiple possible variants found:

• chr11-76015744-C-G
• chr11-76015744-C-T

Variant summary

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

The ENST00000356136.8(UVRAG):​c.1061-1071C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.195 in 151,998 control chromosomes in the GnomAD database, including 5,064 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 0.20 (5064 hom., cov: 32)
• Consequence: UVRAG ENST00000356136.8 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.139
• Publications: 1 publications found

Genes affected

UVRAG (HGNC:12640): (UV radiation resistance associated) This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [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=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.454 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000356136.8. 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
	UVRAG	NM_003369.4	MANE Select	c.1061-1071C>G		intron	N/A	NP_003360.2
	UVRAG	NM_001386671.1		c.1061-1071C>G		intron	N/A	NP_001373600.1
	UVRAG	NM_001386672.1		c.899-1071C>G		intron	N/A	NP_001373601.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	UVRAG	ENST00000356136.8	TSL:1 MANE Select	c.1061-1071C>G		intron	N/A	ENSP00000348455.3
	UVRAG	ENST00000528420.5	TSL:2	c.758-1071C>G		intron	N/A	ENSP00000436039.1
	UVRAG	ENST00000531818.5	TSL:2	c.-56-1071C>G		intron	N/A	ENSP00000434082.1

Frequencies

GnomAD3 genomes AF: 0.195 AC: 29630 AN: 151880 Hom.: 5041 Cov.: 32

Gnomad AFR AF: 0.459

Gnomad AMI AF: 0.0417

Gnomad AMR AF: 0.0935

Gnomad ASJ AF: 0.0741

Gnomad EAS AF: 0.284

Gnomad SAS AF: 0.230

Gnomad FIN AF: 0.0665

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.0786

Gnomad OTH AF: 0.145

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

GnomAD4 genome AF: 0.195 AC: 29706 AN: 151998 Hom.: 5064 Cov.: 32 AF XY: 0.192 AC XY: 14282 AN XY: 74284

African (AFR) AF: 0.459 AC: 19033 AN: 41454

American (AMR) AF: 0.0932 AC: 1423 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.0741 AC: 257 AN: 3470

East Asian (EAS) AF: 0.284 AC: 1467 AN: 5168

South Asian (SAS) AF: 0.230 AC: 1105 AN: 4806

European-Finnish (FIN) AF: 0.0665 AC: 702 AN: 10550

Middle Eastern (MID) AF: 0.112 AC: 33 AN: 294

European-Non Finnish (NFE) AF: 0.0786 AC: 5341 AN: 67964

Other (OTH) AF: 0.145 AC: 307 AN: 2114

Alfa AF: 0.0653 Hom.: 102

Bravo AF: 0.204

Asia WGS AF: 0.310 AC: 1077 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	5.2
DANN	Benign	0.51
PhyloP100		0.14
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: rs7116263; hg19: chr11-75726788;