8-11486464-C-T

Variant names:

• chr8-11486464-C-T
• rs2736340

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 0.259 in 152,104 control chromosomes in the GnomAD database, including 6,491 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 0.26 (6491 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.878

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.696 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: 0.259 AC: 39383 AN: 151986 Hom.: 6471 Cov.: 32

Gnomad AFR AF: 0.138

Gnomad AMI AF: 0.193

Gnomad AMR AF: 0.443

Gnomad ASJ AF: 0.144

Gnomad EAS AF: 0.715

Gnomad SAS AF: 0.351

Gnomad FIN AF: 0.274

Gnomad MID AF: 0.190

Gnomad NFE AF: 0.255

Gnomad OTH AF: 0.256

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

GnomAD4 genome AF: 0.259 AC: 39418 AN: 152104 Hom.: 6491 Cov.: 32 AF XY: 0.267 AC XY: 19834 AN XY: 74356

Gnomad4 AFR AF: 0.138

Gnomad4 AMR AF: 0.444

Gnomad4 ASJ AF: 0.144

Gnomad4 EAS AF: 0.716

Gnomad4 SAS AF: 0.350

Gnomad4 FIN AF: 0.274

Gnomad4 NFE AF: 0.255

Gnomad4 OTH AF: 0.266

Alfa AF: 0.264 Hom.: 13466

Bravo AF: 0.274

Asia WGS AF: 0.534 AC: 1855 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	3.1
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2736340; hg19: chr8-11343973;