rs1326384

Variant names:

• chr13-27782185-T-C
• rs1326384

Your query was ambiguous. Multiple possible variants found:

• chr13-27782185-T-C
• chr13-27782185-T-G

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 0.432 in 152,110 control chromosomes in the GnomAD database, including 16,314 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 0.43 (16314 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0230

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.654 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: 0.432 AC: 65703 AN: 151994 Hom.: 16308 Cov.: 32

Gnomad AFR AF: 0.182

Gnomad AMI AF: 0.593

Gnomad AMR AF: 0.468

Gnomad ASJ AF: 0.494

Gnomad EAS AF: 0.633

Gnomad SAS AF: 0.672

Gnomad FIN AF: 0.563

Gnomad MID AF: 0.528

Gnomad NFE AF: 0.518

Gnomad OTH AF: 0.458

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

GnomAD4 genome AF: 0.432 AC: 65734 AN: 152110 Hom.: 16314 Cov.: 32 AF XY: 0.443 AC XY: 32929 AN XY: 74348

Gnomad4 AFR AF: 0.182

Gnomad4 AMR AF: 0.468

Gnomad4 ASJ AF: 0.494

Gnomad4 EAS AF: 0.633

Gnomad4 SAS AF: 0.673

Gnomad4 FIN AF: 0.563

Gnomad4 NFE AF: 0.518

Gnomad4 OTH AF: 0.463

Alfa AF: 0.499 Hom.: 27055

Bravo AF: 0.409

Asia WGS AF: 0.630 AC: 2191 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.5
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1326384; hg19: chr13-28356322; COSMIC: COSV69345327;