rs36061340

Positions:

• chr8-100795002-C-T

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 0.108 in 151,572 control chromosomes in the GnomAD database, including 1,204 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 0.11 (1204 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.03

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.305 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.108 AC: 16288 AN: 151456 Hom.: 1195 Cov.: 29

Gnomad AFR AF: 0.151

Gnomad AMI AF: 0.0504

Gnomad AMR AF: 0.195

Gnomad ASJ AF: 0.0801

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.0830

Gnomad FIN AF: 0.0560

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.0577

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.108 AC: 16335 AN: 151572 Hom.: 1204 Cov.: 29 AF XY: 0.111 AC XY: 8248 AN XY: 74088

Gnomad4 AFR AF: 0.151

Gnomad4 AMR AF: 0.196

Gnomad4 ASJ AF: 0.0801

Gnomad4 EAS AF: 0.318

Gnomad4 SAS AF: 0.0832

Gnomad4 FIN AF: 0.0560

Gnomad4 NFE AF: 0.0577

Gnomad4 OTH AF: 0.114

Alfa AF: 0.0857 Hom.: 84

Bravo AF: 0.123

Asia WGS AF: 0.179 AC: 621 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.39
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs36061340; hg19: chr8-101807230;