8-13684270-C-T

Variant names:

• chr8-13684270-C-T
• rs7821547

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 0.213 in 152,090 control chromosomes in the GnomAD database, including 3,680 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 0.21 (3680 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.251
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.349 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: 0.213 AC: 32428 AN: 151972 Hom.: 3674 Cov.: 32

Gnomad AFR AF: 0.215

Gnomad AMI AF: 0.119

Gnomad AMR AF: 0.149

Gnomad ASJ AF: 0.174

Gnomad EAS AF: 0.0722

Gnomad SAS AF: 0.362

Gnomad FIN AF: 0.208

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.232

Gnomad OTH AF: 0.198

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

GnomAD4 genome AF: 0.213 AC: 32450 AN: 152090 Hom.: 3680 Cov.: 32 AF XY: 0.213 AC XY: 15863 AN XY: 74338

African (AFR) AF: 0.215 AC: 8917 AN: 41478

American (AMR) AF: 0.148 AC: 2267 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.174 AC: 602 AN: 3468

East Asian (EAS) AF: 0.0729 AC: 376 AN: 5156

South Asian (SAS) AF: 0.363 AC: 1746 AN: 4810

European-Finnish (FIN) AF: 0.208 AC: 2208 AN: 10602

Middle Eastern (MID) AF: 0.184 AC: 54 AN: 294

European-Non Finnish (NFE) AF: 0.232 AC: 15753 AN: 67986

Other (OTH) AF: 0.198 AC: 419 AN: 2114

Alfa AF: 0.222 Hom.: 6387

Bravo AF: 0.201

Asia WGS AF: 0.259 AC: 898 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.4
DANN	Benign	0.73
PhyloP100		-0.25

Splicing

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

Other links and lift over

dbSNP: rs7821547; hg19: chr8-13541779;