8-134474263-G-T

Variant names:

• chr8-134474263-G-T
• rs6577648

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 0.481 in 152,084 control chromosomes in the GnomAD database, including 19,909 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 0.48 (19909 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00700
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.745 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: 0.481 AC: 73062 AN: 151968 Hom.: 19868 Cov.: 32

Gnomad AFR AF: 0.752

Gnomad AMI AF: 0.456

Gnomad AMR AF: 0.358

Gnomad ASJ AF: 0.429

Gnomad EAS AF: 0.195

Gnomad SAS AF: 0.218

Gnomad FIN AF: 0.416

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.398

Gnomad OTH AF: 0.452

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

GnomAD4 genome AF: 0.481 AC: 73147 AN: 152084 Hom.: 19909 Cov.: 32 AF XY: 0.476 AC XY: 35381 AN XY: 74362

African (AFR) AF: 0.752 AC: 31199 AN: 41466

American (AMR) AF: 0.357 AC: 5458 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.429 AC: 1489 AN: 3472

East Asian (EAS) AF: 0.195 AC: 1009 AN: 5168

South Asian (SAS) AF: 0.217 AC: 1044 AN: 4818

European-Finnish (FIN) AF: 0.416 AC: 4402 AN: 10582

Middle Eastern (MID) AF: 0.398 AC: 117 AN: 294

European-Non Finnish (NFE) AF: 0.398 AC: 27068 AN: 67976

Other (OTH) AF: 0.447 AC: 945 AN: 2112

Alfa AF: 0.412 Hom.: 24150

Bravo AF: 0.492

Asia WGS AF: 0.248 AC: 862 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.8
DANN	Benign	0.48
PhyloP100		0.0070

Splicing

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

Other links and lift over

dbSNP: rs6577648; hg19: chr8-135486506;