rs2670029

Variant names:

• chr8-56472437-C-A
• rs2670029
• ENST00000518662.5:n.695-23786C>A

Your query was ambiguous. Multiple possible variants found:

• chr8-56472437-C-A
• chr8-56472437-C-G

Variant summary

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

The ENST00000518662.5(PENK-AS1):​n.695-23786C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.446 in 151,862 control chromosomes in the GnomAD database, including 15,313 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 0.45 (15313 hom., cov: 31)
• Consequence: PENK-AS1 ENST00000518662.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.64
• Publications: 1 publications found

Genes affected

PENK-AS1 (HGNC:55519): (PENK antisense RNA 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.51 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000518662.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PENK-AS1	NR_125813.1		n.695-23786C>A		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PENK-AS1	ENST00000518662.5	TSL:2	n.695-23786C>A		intron	N/A
	PENK-AS1	ENST00000662661.1		n.265-23786C>A		intron	N/A
	PENK-AS1	ENST00000685796.1		n.658-23786C>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.445 AC: 67587 AN: 151744 Hom.: 15286 Cov.: 31

Gnomad AFR AF: 0.516

Gnomad AMI AF: 0.404

Gnomad AMR AF: 0.376

Gnomad ASJ AF: 0.499

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.438

Gnomad FIN AF: 0.506

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.419

Gnomad OTH AF: 0.437

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

GnomAD4 genome AF: 0.446 AC: 67655 AN: 151862 Hom.: 15313 Cov.: 31 AF XY: 0.446 AC XY: 33115 AN XY: 74206

African (AFR) AF: 0.516 AC: 21360 AN: 41416

American (AMR) AF: 0.376 AC: 5737 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.499 AC: 1733 AN: 3472

East Asian (EAS) AF: 0.296 AC: 1521 AN: 5136

South Asian (SAS) AF: 0.440 AC: 2117 AN: 4812

European-Finnish (FIN) AF: 0.506 AC: 5325 AN: 10530

Middle Eastern (MID) AF: 0.514 AC: 151 AN: 294

European-Non Finnish (NFE) AF: 0.419 AC: 28427 AN: 67918

Other (OTH) AF: 0.435 AC: 916 AN: 2108

Alfa AF: 0.444 Hom.: 1899

Bravo AF: 0.438

Asia WGS AF: 0.385 AC: 1344 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.047
DANN	Benign	0.45
PhyloP100		-3.6

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs2670029;

hg19: chr8-57384996;