8-77110274-C-T

Variant names:

• chr8-77110274-C-T
• rs6473008

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 0.411 in 151,062 control chromosomes in the GnomAD database, including 15,147 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 0.41 (15147 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.650
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.537 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: 0.412 AC: 62146 AN: 150964 Hom.: 15140 Cov.: 30

Gnomad AFR AF: 0.133

Gnomad AMI AF: 0.645

Gnomad AMR AF: 0.475

Gnomad ASJ AF: 0.421

Gnomad EAS AF: 0.506

Gnomad SAS AF: 0.407

Gnomad FIN AF: 0.498

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.542

Gnomad OTH AF: 0.422

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

GnomAD4 genome AF: 0.411 AC: 62161 AN: 151062 Hom.: 15147 Cov.: 30 AF XY: 0.412 AC XY: 30369 AN XY: 73760

African (AFR) AF: 0.133 AC: 5463 AN: 41074

American (AMR) AF: 0.475 AC: 7220 AN: 15210

Ashkenazi Jewish (ASJ) AF: 0.421 AC: 1460 AN: 3464

East Asian (EAS) AF: 0.506 AC: 2577 AN: 5088

South Asian (SAS) AF: 0.406 AC: 1950 AN: 4802

European-Finnish (FIN) AF: 0.498 AC: 5140 AN: 10322

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

European-Non Finnish (NFE) AF: 0.542 AC: 36756 AN: 67802

Other (OTH) AF: 0.429 AC: 899 AN: 2098

Alfa AF: 0.480 Hom.: 9227

Bravo AF: 0.395

Asia WGS AF: 0.451 AC: 1571 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.4
DANN	Benign	0.56
PhyloP100		-0.65

Splicing

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

Other links and lift over

dbSNP: rs6473008; hg19: chr8-78022510;