8-114678422-A-G

Position:

• chr8-114678422-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 0.526 in 151,956 control chromosomes in the GnomAD database, including 23,996 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 0.53 (23996 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.46

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.876 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: 0.526 AC: 79886 AN: 151838 Hom.: 23947 Cov.: 32

Gnomad AFR AF: 0.786

Gnomad AMI AF: 0.277

Gnomad AMR AF: 0.544

Gnomad ASJ AF: 0.436

Gnomad EAS AF: 0.898

Gnomad SAS AF: 0.598

Gnomad FIN AF: 0.399

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.358

Gnomad OTH AF: 0.503

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

GnomAD4 genome AF: 0.526 AC: 79998 AN: 151956 Hom.: 23996 Cov.: 32 AF XY: 0.533 AC XY: 39559 AN XY: 74276

Gnomad4 AFR AF: 0.787

Gnomad4 AMR AF: 0.544

Gnomad4 ASJ AF: 0.436

Gnomad4 EAS AF: 0.897

Gnomad4 SAS AF: 0.598

Gnomad4 FIN AF: 0.399

Gnomad4 NFE AF: 0.359

Gnomad4 OTH AF: 0.503

Alfa AF: 0.421 Hom.: 7634

Bravo AF: 0.552

Asia WGS AF: 0.725 AC: 2520 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.090
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7003117; hg19: chr8-115690651;