rs1326306

Variant names:

• chr13-31364049-A-C
• rs1326306

Your query was ambiguous. Multiple possible variants found:

• chr13-31364049-A-C
• chr13-31364049-A-G
• chr13-31364049-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 0.667 in 152,174 control chromosomes in the GnomAD database, including 34,904 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 0.67 (34904 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0100
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.754 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: 0.667 AC: 101467 AN: 152056 Hom.: 34903 Cov.: 34

Gnomad AFR AF: 0.499

Gnomad AMI AF: 0.891

Gnomad AMR AF: 0.691

Gnomad ASJ AF: 0.759

Gnomad EAS AF: 0.606

Gnomad SAS AF: 0.657

Gnomad FIN AF: 0.680

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.759

Gnomad OTH AF: 0.678

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

GnomAD4 genome AF: 0.667 AC: 101520 AN: 152174 Hom.: 34904 Cov.: 34 AF XY: 0.663 AC XY: 49294 AN XY: 74388

African (AFR) AF: 0.499 AC: 20704 AN: 41486

American (AMR) AF: 0.691 AC: 10572 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.759 AC: 2636 AN: 3472

East Asian (EAS) AF: 0.606 AC: 3139 AN: 5180

South Asian (SAS) AF: 0.656 AC: 3165 AN: 4824

European-Finnish (FIN) AF: 0.680 AC: 7202 AN: 10590

Middle Eastern (MID) AF: 0.745 AC: 219 AN: 294

European-Non Finnish (NFE) AF: 0.759 AC: 51644 AN: 68014

Other (OTH) AF: 0.676 AC: 1426 AN: 2110

Alfa AF: 0.726 Hom.: 108882

Bravo AF: 0.660

Asia WGS AF: 0.646 AC: 2245 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	6.9
DANN	Benign	0.47
PhyloP100		-0.010

Splicing

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

Other links and lift over

dbSNP: rs1326306; hg19: chr13-31938186;