8-134943565-A-G

Variant names:

• chr8-134943565-A-G
• rs4132831

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 0.632 in 152,094 control chromosomes in the GnomAD database, including 30,579 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 0.63 (30579 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.81
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.646 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: 0.632 AC: 96079 AN: 151976 Hom.: 30549 Cov.: 32

Gnomad AFR AF: 0.627

Gnomad AMI AF: 0.582

Gnomad AMR AF: 0.572

Gnomad ASJ AF: 0.485

Gnomad EAS AF: 0.649

Gnomad SAS AF: 0.570

Gnomad FIN AF: 0.697

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.652

Gnomad OTH AF: 0.590

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

GnomAD4 genome AF: 0.632 AC: 96157 AN: 152094 Hom.: 30579 Cov.: 32 AF XY: 0.631 AC XY: 46899 AN XY: 74328

African (AFR) AF: 0.627 AC: 26036 AN: 41494

American (AMR) AF: 0.572 AC: 8730 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.485 AC: 1680 AN: 3466

East Asian (EAS) AF: 0.649 AC: 3361 AN: 5182

South Asian (SAS) AF: 0.570 AC: 2743 AN: 4810

European-Finnish (FIN) AF: 0.697 AC: 7359 AN: 10558

Middle Eastern (MID) AF: 0.537 AC: 158 AN: 294

European-Non Finnish (NFE) AF: 0.652 AC: 44306 AN: 68000

Other (OTH) AF: 0.595 AC: 1254 AN: 2108

Alfa AF: 0.638 Hom.: 18366

Bravo AF: 0.624

Asia WGS AF: 0.592 AC: 2057 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.11
DANN	Benign	0.45
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs4132831; hg19: chr8-135955808;