rs7324250

Variant names:

• chr13-111516530-A-C
• rs7324250

Your query was ambiguous. Multiple possible variants found:

• chr13-111516530-A-C
• chr13-111516530-A-G

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 0.719 in 152,112 control chromosomes in the GnomAD database, including 39,511 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 0.72 (39511 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.06
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.831 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.719 AC: 109260 AN: 151994 Hom.: 39465 Cov.: 33

Gnomad AFR AF: 0.670

Gnomad AMI AF: 0.697

Gnomad AMR AF: 0.712

Gnomad ASJ AF: 0.667

Gnomad EAS AF: 0.852

Gnomad SAS AF: 0.726

Gnomad FIN AF: 0.775

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.735

Gnomad OTH AF: 0.692

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

GnomAD4 genome AF: 0.719 AC: 109370 AN: 152112 Hom.: 39511 Cov.: 33 AF XY: 0.721 AC XY: 53623 AN XY: 74360

African (AFR) AF: 0.670 AC: 27781 AN: 41458

American (AMR) AF: 0.713 AC: 10900 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.667 AC: 2316 AN: 3470

East Asian (EAS) AF: 0.852 AC: 4408 AN: 5172

South Asian (SAS) AF: 0.725 AC: 3493 AN: 4816

European-Finnish (FIN) AF: 0.775 AC: 8212 AN: 10600

Middle Eastern (MID) AF: 0.650 AC: 191 AN: 294

European-Non Finnish (NFE) AF: 0.735 AC: 49969 AN: 67980

Other (OTH) AF: 0.693 AC: 1464 AN: 2114

Alfa AF: 0.727 Hom.: 90312

Bravo AF: 0.712

Asia WGS AF: 0.783 AC: 2723 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.1
DANN	Benign	0.53
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs7324250; hg19: chr13-112168877;