8-11484371-T-C

Variant names:

• chr8-11484371-T-C
• rs2736337

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.267 in 151,844 control chromosomes in the GnomAD database, including 6,534 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 0.27 (6534 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0380

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.689 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: 0.267 AC: 40499 AN: 151726 Hom.: 6515 Cov.: 32

Gnomad AFR AF: 0.171

Gnomad AMI AF: 0.188

Gnomad AMR AF: 0.446

Gnomad ASJ AF: 0.143

Gnomad EAS AF: 0.708

Gnomad SAS AF: 0.350

Gnomad FIN AF: 0.271

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.253

Gnomad OTH AF: 0.259

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

GnomAD4 genome AF: 0.267 AC: 40554 AN: 151844 Hom.: 6534 Cov.: 32 AF XY: 0.274 AC XY: 20347 AN XY: 74248

Gnomad4 AFR AF: 0.171

Gnomad4 AMR AF: 0.447

Gnomad4 ASJ AF: 0.143

Gnomad4 EAS AF: 0.709

Gnomad4 SAS AF: 0.350

Gnomad4 FIN AF: 0.271

Gnomad4 NFE AF: 0.254

Gnomad4 OTH AF: 0.269

Alfa AF: 0.136 Hom.: 220

Bravo AF: 0.284

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	4.4
DANN	Benign	0.78

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2736337; hg19: chr8-11341880;