rs11121179

chr1-8395652-G-T

Variant summary

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

The NM_001042681.2(RERE):c.1284+27075C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.16 in 152,086 control chromosomes in the GnomAD database, including 2,192 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 0.16 (2192 hom., cov: 32)
• Consequence: RERE NM_001042681.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.05

Genes affected

RERE (HGNC:9965): (arginine-glutamic acid dipeptide repeats) This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.266 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
RERE	NM_001042681.2	c.1284+27075C>A		intron_variant		ENST00000400908.7
RERE	NM_001042682.2	c.-379+27075C>A		intron_variant
RERE	NM_012102.4	c.1284+27075C>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
RERE	ENST00000400908.7	c.1284+27075C>A		intron_variant		1	NM_001042681.2	P1

Frequencies

GnomAD3 genomes AF: 0.160 AC: 24302 AN: 151970 Hom.: 2192 Cov.: 32

Gnomad AFR AF: 0.116

Gnomad AMI AF: 0.136

Gnomad AMR AF: 0.160

Gnomad ASJ AF: 0.277

Gnomad EAS AF: 0.0537

Gnomad SAS AF: 0.278

Gnomad FIN AF: 0.172

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.178

Gnomad OTH AF: 0.182

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

GnomAD4 genome AF: 0.160 AC: 24302 AN: 152086 Hom.: 2192 Cov.: 32 AF XY: 0.160 AC XY: 11888 AN XY: 74324

Gnomad4 AFR AF: 0.116

Gnomad4 AMR AF: 0.159

Gnomad4 ASJ AF: 0.277

Gnomad4 EAS AF: 0.0538

Gnomad4 SAS AF: 0.278

Gnomad4 FIN AF: 0.172

Gnomad4 NFE AF: 0.178

Gnomad4 OTH AF: 0.182

Alfa AF: 0.185 Hom.: 3635

Bravo AF: 0.154

Asia WGS AF: 0.166 AC: 576 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
Cadd	Benign	6.5
Dann	Benign	0.63

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: rs11121179; hg19: chr1-8455712;