chr8-109177954-G-A

Variant names:

• chr8-109177954-G-A
• rs11785243

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 0.465 in 152,016 control chromosomes in the GnomAD database, including 18,379 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 0.47 (18379 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0290
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.688 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: 0.465 AC: 70600 AN: 151896 Hom.: 18333 Cov.: 32

Gnomad AFR AF: 0.695

Gnomad AMI AF: 0.556

Gnomad AMR AF: 0.492

Gnomad ASJ AF: 0.202

Gnomad EAS AF: 0.471

Gnomad SAS AF: 0.463

Gnomad FIN AF: 0.393

Gnomad MID AF: 0.209

Gnomad NFE AF: 0.344

Gnomad OTH AF: 0.414

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

GnomAD4 genome AF: 0.465 AC: 70711 AN: 152016 Hom.: 18379 Cov.: 32 AF XY: 0.468 AC XY: 34741 AN XY: 74296

African (AFR) AF: 0.695 AC: 28817 AN: 41476

American (AMR) AF: 0.493 AC: 7518 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.202 AC: 700 AN: 3468

East Asian (EAS) AF: 0.472 AC: 2445 AN: 5178

South Asian (SAS) AF: 0.462 AC: 2226 AN: 4816

European-Finnish (FIN) AF: 0.393 AC: 4152 AN: 10570

Middle Eastern (MID) AF: 0.218 AC: 64 AN: 294

European-Non Finnish (NFE) AF: 0.344 AC: 23397 AN: 67928

Other (OTH) AF: 0.420 AC: 887 AN: 2114

Alfa AF: 0.451 Hom.: 3316

Bravo AF: 0.482

Asia WGS AF: 0.538 AC: 1868 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.99
DANN	Benign	0.51
PhyloP100		0.029

Splicing

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

Other links and lift over

dbSNP: rs11785243; hg19: chr8-110190183;