8-40971738-C-G

Variant names:

• chr8-40971738-C-G
• rs6474290

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 0.76 in 152,094 control chromosomes in the GnomAD database, including 44,151 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 0.76 (44151 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.77
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.823 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: 0.760 AC: 115471 AN: 151974 Hom.: 44109 Cov.: 32

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.586

Gnomad AMR AF: 0.760

Gnomad ASJ AF: 0.661

Gnomad EAS AF: 0.761

Gnomad SAS AF: 0.780

Gnomad FIN AF: 0.758

Gnomad MID AF: 0.649

Gnomad NFE AF: 0.724

Gnomad OTH AF: 0.727

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

GnomAD4 genome AF: 0.760 AC: 115565 AN: 152094 Hom.: 44151 Cov.: 32 AF XY: 0.760 AC XY: 56528 AN XY: 74352

African (AFR) AF: 0.831 AC: 34479 AN: 41508

American (AMR) AF: 0.760 AC: 11615 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.661 AC: 2295 AN: 3470

East Asian (EAS) AF: 0.761 AC: 3921 AN: 5154

South Asian (SAS) AF: 0.782 AC: 3770 AN: 4820

European-Finnish (FIN) AF: 0.758 AC: 8012 AN: 10570

Middle Eastern (MID) AF: 0.650 AC: 191 AN: 294

European-Non Finnish (NFE) AF: 0.724 AC: 49211 AN: 67982

Other (OTH) AF: 0.729 AC: 1538 AN: 2110

Alfa AF: 0.747 Hom.: 5320

Bravo AF: 0.762

Asia WGS AF: 0.795 AC: 2766 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.32
DANN	Benign	0.66
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs6474290; hg19: chr8-40829257;