chr8-118911634-A-G

Variant names:

• chr8-118911634-A-G
• rs4355801

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 0.341 in 151,988 control chromosomes in the GnomAD database, including 10,966 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 0.34 (10966 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00700
• Publications: 73 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.458 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.341 AC: 51779 AN: 151872 Hom.: 10959 Cov.: 32

Gnomad AFR AF: 0.0886

Gnomad AMI AF: 0.605

Gnomad AMR AF: 0.408

Gnomad ASJ AF: 0.331

Gnomad EAS AF: 0.255

Gnomad SAS AF: 0.324

Gnomad FIN AF: 0.484

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.462

Gnomad OTH AF: 0.356

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

GnomAD4 genome AF: 0.341 AC: 51784 AN: 151988 Hom.: 10966 Cov.: 32 AF XY: 0.340 AC XY: 25245 AN XY: 74260

African (AFR) AF: 0.0885 AC: 3674 AN: 41530

American (AMR) AF: 0.408 AC: 6230 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.331 AC: 1147 AN: 3468

East Asian (EAS) AF: 0.256 AC: 1322 AN: 5174

South Asian (SAS) AF: 0.325 AC: 1567 AN: 4820

European-Finnish (FIN) AF: 0.484 AC: 5096 AN: 10526

Middle Eastern (MID) AF: 0.293 AC: 86 AN: 294

European-Non Finnish (NFE) AF: 0.462 AC: 31371 AN: 67902

Other (OTH) AF: 0.352 AC: 739 AN: 2102

Alfa AF: 0.420 Hom.: 47964

Bravo AF: 0.329

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.9
DANN	Benign	0.80
PhyloP100		-0.0070

Splicing

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

Other links and lift over

dbSNP: rs4355801; hg19: chr8-119923873;