rs721352

Variant names:

• chr9-6332901-A-C
• rs721352

Your query was ambiguous. Multiple possible variants found:

• chr9-6332901-A-C
• chr9-6332901-A-G
• chr9-6332901-A-T

Variant summary

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

The variant allele was found at a frequency of 0.617 in 152,126 control chromosomes in the GnomAD database, including 31,308 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 0.62 (31308 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.178
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.975 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.617 AC: 93816 AN: 152008 Hom.: 31301 Cov.: 33

Gnomad AFR AF: 0.359

Gnomad AMI AF: 0.577

Gnomad AMR AF: 0.720

Gnomad ASJ AF: 0.670

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.792

Gnomad FIN AF: 0.733

Gnomad MID AF: 0.715

Gnomad NFE AF: 0.689

Gnomad OTH AF: 0.622

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

GnomAD4 genome AF: 0.617 AC: 93828 AN: 152126 Hom.: 31308 Cov.: 33 AF XY: 0.625 AC XY: 46479 AN XY: 74364

African (AFR) AF: 0.358 AC: 14851 AN: 41486

American (AMR) AF: 0.721 AC: 11017 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.670 AC: 2325 AN: 3472

East Asian (EAS) AF: 0.998 AC: 5174 AN: 5186

South Asian (SAS) AF: 0.792 AC: 3816 AN: 4818

European-Finnish (FIN) AF: 0.733 AC: 7758 AN: 10584

Middle Eastern (MID) AF: 0.707 AC: 208 AN: 294

European-Non Finnish (NFE) AF: 0.689 AC: 46833 AN: 67978

Other (OTH) AF: 0.625 AC: 1321 AN: 2114

Alfa AF: 0.675 Hom.: 28996

Bravo AF: 0.603

Asia WGS AF: 0.884 AC: 3070 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	8.3
DANN	Benign	0.64
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs721352; hg19: chr9-6332901;