chr8-46370071-G-A

Position:

• chr8-46370071-G-A

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 0.515 in 151,522 control chromosomes in the GnomAD database, including 24,294 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 0.51 (24294 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.689 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: 0.515 AC: 77983 AN: 151402 Hom.: 24298 Cov.: 31

Gnomad AFR AF: 0.146

Gnomad AMI AF: 0.732

Gnomad AMR AF: 0.556

Gnomad ASJ AF: 0.600

Gnomad EAS AF: 0.651

Gnomad SAS AF: 0.459

Gnomad FIN AF: 0.647

Gnomad MID AF: 0.539

Gnomad NFE AF: 0.695

Gnomad OTH AF: 0.540

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

GnomAD4 genome AF: 0.515 AC: 77972 AN: 151522 Hom.: 24294 Cov.: 31 AF XY: 0.513 AC XY: 37962 AN XY: 74002

Gnomad4 AFR AF: 0.145

Gnomad4 AMR AF: 0.555

Gnomad4 ASJ AF: 0.600

Gnomad4 EAS AF: 0.651

Gnomad4 SAS AF: 0.459

Gnomad4 FIN AF: 0.647

Gnomad4 NFE AF: 0.695

Gnomad4 OTH AF: 0.538

Alfa AF: 0.646 Hom.: 41535

Bravo AF: 0.490

Asia WGS AF: 0.493 AC: 1718 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	3.5
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1603681; hg19: chr8-47281693; COSMIC: COSV69197736;