8-42212037-C-G

Position:

• chr8-42212037-C-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 0.786 in 152,204 control chromosomes in the GnomAD database, including 47,761 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 0.79 (47761 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.353

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 (AFR) allele frequency at 95% confidence interval = 0.936 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.785 AC: 119463 AN: 152086 Hom.: 47705 Cov.: 32

Gnomad AFR AF: 0.943

Gnomad AMI AF: 0.656

Gnomad AMR AF: 0.793

Gnomad ASJ AF: 0.660

Gnomad EAS AF: 0.743

Gnomad SAS AF: 0.811

Gnomad FIN AF: 0.741

Gnomad MID AF: 0.658

Gnomad NFE AF: 0.705

Gnomad OTH AF: 0.759

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

GnomAD4 genome AF: 0.786 AC: 119577 AN: 152204 Hom.: 47761 Cov.: 32 AF XY: 0.787 AC XY: 58567 AN XY: 74398

Gnomad4 AFR AF: 0.943

Gnomad4 AMR AF: 0.794

Gnomad4 ASJ AF: 0.660

Gnomad4 EAS AF: 0.743

Gnomad4 SAS AF: 0.808

Gnomad4 FIN AF: 0.741

Gnomad4 NFE AF: 0.706

Gnomad4 OTH AF: 0.755

Alfa AF: 0.666 Hom.: 1937

Bravo AF: 0.793

Asia WGS AF: 0.796 AC: 2770 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	3.4
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7007329; hg19: chr8-42069555;