rs7272891

Variant names:

• chr20-1996172-C-G
• rs7272891
• ENST00000446562.1:n.1217-10760C>G

Your query was ambiguous. Multiple possible variants found:

• chr20-1996172-C-G
• chr20-1996172-C-T

Variant summary

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

The ENST00000446562.1(PDYN-AS1):​n.1217-10760C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0865 in 152,190 control chromosomes in the GnomAD database, including 660 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 0.087 (660 hom., cov: 32)
• Consequence: PDYN-AS1 ENST00000446562.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.530
• Publications: 3 publications found

Genes affected

PDYN-AS1 (HGNC:53462): (PDYN antisense RNA 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.148 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000446562.1. 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
	PDYN-AS1	NR_134520.1		n.1253-10760C>G		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PDYN-AS1	ENST00000446562.1	TSL:2	n.1217-10760C>G		intron	N/A
	PDYN-AS1	ENST00000651021.1		n.475+29829C>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0865 AC: 13155 AN: 152072 Hom.: 659 Cov.: 32

Gnomad AFR AF: 0.0451

Gnomad AMI AF: 0.116

Gnomad AMR AF: 0.153

Gnomad ASJ AF: 0.0400

Gnomad EAS AF: 0.150

Gnomad SAS AF: 0.109

Gnomad FIN AF: 0.0850

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.0931

Gnomad OTH AF: 0.0733

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

GnomAD4 genome AF: 0.0865 AC: 13169 AN: 152190 Hom.: 660 Cov.: 32 AF XY: 0.0881 AC XY: 6557 AN XY: 74410

African (AFR) AF: 0.0450 AC: 1869 AN: 41524

American (AMR) AF: 0.153 AC: 2343 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.0400 AC: 139 AN: 3472

East Asian (EAS) AF: 0.150 AC: 774 AN: 5154

South Asian (SAS) AF: 0.109 AC: 523 AN: 4816

European-Finnish (FIN) AF: 0.0850 AC: 902 AN: 10606

Middle Eastern (MID) AF: 0.0476 AC: 14 AN: 294

European-Non Finnish (NFE) AF: 0.0932 AC: 6337 AN: 68008

Other (OTH) AF: 0.0768 AC: 162 AN: 2110

Alfa AF: 0.0419 Hom.: 34

Bravo AF: 0.0898

Asia WGS AF: 0.163 AC: 565 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	0.74
DANN	Benign	0.30
PhyloP100		-0.53

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: rs7272891;

hg19: chr20-1976818;