rs2357836

Variant names:

• chr8-114891094-T-C
• rs2357836

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 0.204 in 151,946 control chromosomes in the GnomAD database, including 3,339 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 0.20 (3339 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.203
• Publications: 1 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 (AFR) allele frequency at 95% confidence interval = 0.242 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: 0.205 AC: 31049 AN: 151828 Hom.: 3338 Cov.: 32

Gnomad AFR AF: 0.246

Gnomad AMI AF: 0.149

Gnomad AMR AF: 0.173

Gnomad ASJ AF: 0.191

Gnomad EAS AF: 0.00656

Gnomad SAS AF: 0.156

Gnomad FIN AF: 0.214

Gnomad MID AF: 0.150

Gnomad NFE AF: 0.205

Gnomad OTH AF: 0.208

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

GnomAD4 genome AF: 0.204 AC: 31063 AN: 151946 Hom.: 3339 Cov.: 32 AF XY: 0.202 AC XY: 15019 AN XY: 74282

African (AFR) AF: 0.246 AC: 10197 AN: 41454

American (AMR) AF: 0.173 AC: 2640 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.191 AC: 661 AN: 3460

East Asian (EAS) AF: 0.00657 AC: 34 AN: 5174

South Asian (SAS) AF: 0.156 AC: 752 AN: 4826

European-Finnish (FIN) AF: 0.214 AC: 2256 AN: 10554

Middle Eastern (MID) AF: 0.137 AC: 40 AN: 292

European-Non Finnish (NFE) AF: 0.205 AC: 13910 AN: 67910

Other (OTH) AF: 0.207 AC: 437 AN: 2108

Alfa AF: 0.202 Hom.: 1718

Bravo AF: 0.200

Asia WGS AF: 0.0870 AC: 307 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.6
DANN	Benign	0.44
PhyloP100		0.20

Splicing

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

Other links and lift over

dbSNP: rs2357836; hg19: chr8-115903323;