chr8-7059756-A-G

Variant names:

• chr8-7059756-A-G
• rs4841831

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 0.499 in 151,674 control chromosomes in the GnomAD database, including 22,304 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 0.50 (22304 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.507
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.817 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: 0.499 AC: 75656 AN: 151556 Hom.: 22266 Cov.: 30

Gnomad AFR AF: 0.824

Gnomad AMI AF: 0.262

Gnomad AMR AF: 0.484

Gnomad ASJ AF: 0.413

Gnomad EAS AF: 0.535

Gnomad SAS AF: 0.477

Gnomad FIN AF: 0.307

Gnomad MID AF: 0.341

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.469

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

GnomAD4 genome AF: 0.499 AC: 75741 AN: 151674 Hom.: 22304 Cov.: 30 AF XY: 0.495 AC XY: 36700 AN XY: 74090

African (AFR) AF: 0.824 AC: 34087 AN: 41362

American (AMR) AF: 0.483 AC: 7349 AN: 15200

Ashkenazi Jewish (ASJ) AF: 0.413 AC: 1434 AN: 3470

East Asian (EAS) AF: 0.535 AC: 2751 AN: 5140

South Asian (SAS) AF: 0.474 AC: 2277 AN: 4808

European-Finnish (FIN) AF: 0.307 AC: 3213 AN: 10458

Middle Eastern (MID) AF: 0.336 AC: 98 AN: 292

European-Non Finnish (NFE) AF: 0.343 AC: 23310 AN: 67926

Other (OTH) AF: 0.467 AC: 984 AN: 2108

Alfa AF: 0.396 Hom.: 18474

Bravo AF: 0.526

Asia WGS AF: 0.473 AC: 1645 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.6
DANN	Benign	0.55
PhyloP100		-0.51

Splicing

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

Other links and lift over

dbSNP: rs4841831; hg19: chr8-6917278;