rs4243849

Variant names:

• chr8-135700894-A-G
• rs4243849

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 151,932 control chromosomes in the GnomAD database, including 10,338 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 (10338 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.13
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.727 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: 0.341 AC: 51797 AN: 151814 Hom.: 10339 Cov.: 32

Gnomad AFR AF: 0.153

Gnomad AMI AF: 0.405

Gnomad AMR AF: 0.401

Gnomad ASJ AF: 0.328

Gnomad EAS AF: 0.746

Gnomad SAS AF: 0.543

Gnomad FIN AF: 0.488

Gnomad MID AF: 0.301

Gnomad NFE AF: 0.374

Gnomad OTH AF: 0.344

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

GnomAD4 genome AF: 0.341 AC: 51808 AN: 151932 Hom.: 10338 Cov.: 32 AF XY: 0.353 AC XY: 26233 AN XY: 74244

African (AFR) AF: 0.153 AC: 6340 AN: 41434

American (AMR) AF: 0.401 AC: 6124 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.328 AC: 1138 AN: 3468

East Asian (EAS) AF: 0.746 AC: 3840 AN: 5146

South Asian (SAS) AF: 0.543 AC: 2607 AN: 4800

European-Finnish (FIN) AF: 0.488 AC: 5141 AN: 10542

Middle Eastern (MID) AF: 0.282 AC: 83 AN: 294

European-Non Finnish (NFE) AF: 0.374 AC: 25434 AN: 67964

Other (OTH) AF: 0.346 AC: 732 AN: 2114

Alfa AF: 0.372 Hom.: 41477

Bravo AF: 0.330

Asia WGS AF: 0.564 AC: 1958 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	4.4
DANN	Benign	0.50
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs4243849; hg19: chr8-136713137; COSMIC: COSV69028934;