8-132865378-A-G

Position:

• chr8-132865378-A-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 0.579 in 151,988 control chromosomes in the GnomAD database, including 25,621 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).

• Frequency: Genomes: 𝑓 0.58 (25621 hom., cov: 31)
• Consequence: intergenic_region
• Clinical Significance: risk factor no assertion criteria provided O:1
• Conservation: PhyloP100: -0.663

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.654 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.132865378A>G		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.579 AC: 87882 AN: 151872 Hom.: 25583 Cov.: 31

Gnomad AFR AF: 0.626

Gnomad AMI AF: 0.563

Gnomad AMR AF: 0.560

Gnomad ASJ AF: 0.501

Gnomad EAS AF: 0.673

Gnomad SAS AF: 0.490

Gnomad FIN AF: 0.554

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.562

Gnomad OTH AF: 0.558

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

GnomAD4 genome AF: 0.579 AC: 87977 AN: 151988 Hom.: 25621 Cov.: 31 AF XY: 0.575 AC XY: 42707 AN XY: 74262

Gnomad4 AFR AF: 0.626

Gnomad4 AMR AF: 0.560

Gnomad4 ASJ AF: 0.501

Gnomad4 EAS AF: 0.673

Gnomad4 SAS AF: 0.489

Gnomad4 FIN AF: 0.554

Gnomad4 NFE AF: 0.562

Gnomad4 OTH AF: 0.564

Alfa AF: 0.572 Hom.: 2362

Bravo AF: 0.584

Asia WGS AF: 0.582 AC: 2022 AN: 3478

ClinVar

Significance: risk factor

Submissions summary: Other:1

Revision: no assertion criteria provided

Submissions by phenotype

Autoimmune thyroid disease, susceptibility to, 3 Other:1

risk factor, no assertion criteria provided

literature only

OMIM

Sep 09, 2011

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.81
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs180195; hg19: chr8-133877623;