8-46370071-G-A

Variant names:

• chr8-46370071-G-A
• rs1603681

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 0.515 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

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

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.145 AC: 5984 AN: 41194

American (AMR) AF: 0.555 AC: 8450 AN: 15212

Ashkenazi Jewish (ASJ) AF: 0.600 AC: 2082 AN: 3468

East Asian (EAS) AF: 0.651 AC: 3336 AN: 5124

South Asian (SAS) AF: 0.459 AC: 2201 AN: 4792

European-Finnish (FIN) AF: 0.647 AC: 6803 AN: 10522

Middle Eastern (MID) AF: 0.531 AC: 153 AN: 288

European-Non Finnish (NFE) AF: 0.695 AC: 47164 AN: 67906

Other (OTH) AF: 0.538 AC: 1133 AN: 2106

Alfa AF: 0.641 Hom.: 49562

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

You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.

Other links and lift over

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