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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.499

Gnomad4 AMR AF: 0.691

Gnomad4 ASJ AF: 0.759

Gnomad4 EAS AF: 0.606

Gnomad4 SAS AF: 0.656

Gnomad4 FIN AF: 0.680

Gnomad4 NFE AF: 0.759

Gnomad4 OTH AF: 0.676

Alfa AF: 0.743 Hom.: 70208

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1326306; hg19: chr13-31938186;