8-132865378-A-G

Variant names:

• chr8-132865378-A-G
• rs180195

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 0.579 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: Unknown
• Clinical Significance: risk factor no assertion criteria provided O:1
• Conservation: PhyloP100: -0.663
• Publications: 14 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.626 AC: 25957 AN: 41448

American (AMR) AF: 0.560 AC: 8556 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.501 AC: 1738 AN: 3470

East Asian (EAS) AF: 0.673 AC: 3464 AN: 5146

South Asian (SAS) AF: 0.489 AC: 2356 AN: 4818

European-Finnish (FIN) AF: 0.554 AC: 5845 AN: 10554

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.562 AC: 38201 AN: 67962

Other (OTH) AF: 0.564 AC: 1189 AN: 2108

Alfa AF: 0.575 Hom.: 2502

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

Sep 09, 2011

OMIM

Significance: risk factor

Review Status: no assertion criteria provided

Collection Method: literature only

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.81
DANN	Benign	0.57
PhyloP100		-0.66

Splicing

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

Other links and lift over

dbSNP: rs180195; hg19: chr8-133877623;