chr8-7051919-C-T

Variant names:

• chr8-7051919-C-T
• rs10867025

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 0.355 in 152,092 control chromosomes in the GnomAD database, including 9,907 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 0.36 (9907 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.373
• 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 (NFE) allele frequency at 95% confidence interval = 0.391 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: 0.355 AC: 53970 AN: 151974 Hom.: 9904 Cov.: 33

Gnomad AFR AF: 0.266

Gnomad AMI AF: 0.637

Gnomad AMR AF: 0.368

Gnomad ASJ AF: 0.433

Gnomad EAS AF: 0.281

Gnomad SAS AF: 0.353

Gnomad FIN AF: 0.415

Gnomad MID AF: 0.380

Gnomad NFE AF: 0.395

Gnomad OTH AF: 0.362

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

GnomAD4 genome AF: 0.355 AC: 54003 AN: 152092 Hom.: 9907 Cov.: 33 AF XY: 0.358 AC XY: 26663 AN XY: 74374

African (AFR) AF: 0.266 AC: 11042 AN: 41482

American (AMR) AF: 0.368 AC: 5628 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.433 AC: 1503 AN: 3470

East Asian (EAS) AF: 0.281 AC: 1454 AN: 5180

South Asian (SAS) AF: 0.355 AC: 1711 AN: 4824

European-Finnish (FIN) AF: 0.415 AC: 4395 AN: 10582

Middle Eastern (MID) AF: 0.374 AC: 110 AN: 294

European-Non Finnish (NFE) AF: 0.395 AC: 26811 AN: 67952

Other (OTH) AF: 0.364 AC: 768 AN: 2110

Alfa AF: 0.386 Hom.: 5947

Bravo AF: 0.348

Asia WGS AF: 0.347 AC: 1208 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	0.76
DANN	Benign	0.52
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs10867025; hg19: chr8-6909441;