8-71803166-T-C

Variant names:

• chr8-71803166-T-C
• rs4590481

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 0.648 in 152,092 control chromosomes in the GnomAD database, including 34,339 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 0.65 (34339 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.238
• Publications: 5 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 = 0.78 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: 0.648 AC: 98541 AN: 151974 Hom.: 34336 Cov.: 32

Gnomad AFR AF: 0.405

Gnomad AMI AF: 0.650

Gnomad AMR AF: 0.682

Gnomad ASJ AF: 0.810

Gnomad EAS AF: 0.316

Gnomad SAS AF: 0.678

Gnomad FIN AF: 0.747

Gnomad MID AF: 0.764

Gnomad NFE AF: 0.786

Gnomad OTH AF: 0.706

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

GnomAD4 genome AF: 0.648 AC: 98574 AN: 152092 Hom.: 34339 Cov.: 32 AF XY: 0.648 AC XY: 48213 AN XY: 74370

African (AFR) AF: 0.405 AC: 16780 AN: 41446

American (AMR) AF: 0.682 AC: 10421 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.810 AC: 2812 AN: 3470

East Asian (EAS) AF: 0.316 AC: 1625 AN: 5150

South Asian (SAS) AF: 0.678 AC: 3277 AN: 4832

European-Finnish (FIN) AF: 0.747 AC: 7915 AN: 10594

Middle Eastern (MID) AF: 0.760 AC: 222 AN: 292

European-Non Finnish (NFE) AF: 0.786 AC: 53433 AN: 67998

Other (OTH) AF: 0.707 AC: 1496 AN: 2116

Alfa AF: 0.638 Hom.: 4506

Bravo AF: 0.628

Asia WGS AF: 0.515 AC: 1792 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.2
DANN	Benign	0.59
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs4590481; hg19: chr8-72715401;