5-52710968-A-G

Position:

• chr5-52710968-A-G

Variant summary

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

The ENST00000670789.1(PELO-AS1):​n.211-25278T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.916 in 152,096 control chromosomes in the GnomAD database, including 64,147 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 0.92 (64147 hom., cov: 31)
• Consequence: PELO-AS1 ENST00000670789.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.807

Genes affected

PELO-AS1 (HGNC:56263): (PELO antisense RNA 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.968 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PELO-AS1	XR_001742662.2	n.156-724T>C		intron_variant, non_coding_transcript_variant
PELO-AS1	XR_001742661.2	n.159-724T>C		intron_variant, non_coding_transcript_variant
PELO-AS1	XR_948321.3	n.210-724T>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PELO-AS1	ENST00000670789.1	n.211-25278T>C		intron_variant, non_coding_transcript_variant
PELO-AS1	ENST00000502995.1	n.168-25278T>C		intron_variant, non_coding_transcript_variant		4

Frequencies

GnomAD3 genomes AF: 0.916 AC: 139183 AN: 151978 Hom.: 64125 Cov.: 31

Gnomad AFR AF: 0.819

Gnomad AMI AF: 0.996

Gnomad AMR AF: 0.893

Gnomad ASJ AF: 0.968

Gnomad EAS AF: 0.817

Gnomad SAS AF: 0.923

Gnomad FIN AF: 0.974

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.974

Gnomad OTH AF: 0.926

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

GnomAD4 genome AF: 0.916 AC: 139258 AN: 152096 Hom.: 64147 Cov.: 31 AF XY: 0.917 AC XY: 68129 AN XY: 74334

Gnomad4 AFR AF: 0.819

Gnomad4 AMR AF: 0.892

Gnomad4 ASJ AF: 0.968

Gnomad4 EAS AF: 0.817

Gnomad4 SAS AF: 0.924

Gnomad4 FIN AF: 0.974

Gnomad4 NFE AF: 0.974

Gnomad4 OTH AF: 0.923

Alfa AF: 0.963 Hom.: 133288

Bravo AF: 0.902

Asia WGS AF: 0.862 AC: 3000 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.5
DANN	Benign	0.72

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs183013; hg19: chr5-52006802;