chr8-43936548-G-A

Variant names:

• chr8-43936548-G-A
• rs10958798

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 0.507 in 150,868 control chromosomes in the GnomAD database, including 23,303 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 (23303 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.679 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.507 AC: 76469 AN: 150748 Hom.: 23303 Cov.: 32

Gnomad AFR AF: 0.153

Gnomad AMI AF: 0.696

Gnomad AMR AF: 0.546

Gnomad ASJ AF: 0.561

Gnomad EAS AF: 0.627

Gnomad SAS AF: 0.445

Gnomad FIN AF: 0.632

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.684

Gnomad OTH AF: 0.526

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

GnomAD4 genome AF: 0.507 AC: 76465 AN: 150868 Hom.: 23303 Cov.: 32 AF XY: 0.505 AC XY: 37182 AN XY: 73680

African (AFR) AF: 0.153 AC: 6300 AN: 41220

American (AMR) AF: 0.546 AC: 8155 AN: 14942

Ashkenazi Jewish (ASJ) AF: 0.561 AC: 1936 AN: 3450

East Asian (EAS) AF: 0.627 AC: 3182 AN: 5074

South Asian (SAS) AF: 0.445 AC: 2144 AN: 4816

European-Finnish (FIN) AF: 0.632 AC: 6661 AN: 10546

Middle Eastern (MID) AF: 0.507 AC: 149 AN: 294

European-Non Finnish (NFE) AF: 0.684 AC: 46208 AN: 67520

Other (OTH) AF: 0.523 AC: 1097 AN: 2096

Alfa AF: 0.625 Hom.: 109805

Bravo AF: 0.484

Asia WGS AF: 0.464 AC: 1616 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.5
DANN	Benign	0.51

Splicing

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

Other links and lift over

dbSNP: rs10958798; hg19: chr8-43791691;