chr8-127576577-T-G

Variant names:

• chr8-127576577-T-G
• rs7824074

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 0.75 in 152,064 control chromosomes in the GnomAD database, including 43,226 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 0.75 (43226 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.83
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.851 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: 0.750 AC: 113979 AN: 151946 Hom.: 43206 Cov.: 32

Gnomad AFR AF: 0.859

Gnomad AMI AF: 0.831

Gnomad AMR AF: 0.692

Gnomad ASJ AF: 0.712

Gnomad EAS AF: 0.831

Gnomad SAS AF: 0.662

Gnomad FIN AF: 0.696

Gnomad MID AF: 0.820

Gnomad NFE AF: 0.706

Gnomad OTH AF: 0.763

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

GnomAD4 genome AF: 0.750 AC: 114050 AN: 152064 Hom.: 43226 Cov.: 32 AF XY: 0.750 AC XY: 55712 AN XY: 74326

African (AFR) AF: 0.859 AC: 35613 AN: 41480

American (AMR) AF: 0.692 AC: 10572 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.712 AC: 2472 AN: 3472

East Asian (EAS) AF: 0.831 AC: 4295 AN: 5166

South Asian (SAS) AF: 0.662 AC: 3176 AN: 4798

European-Finnish (FIN) AF: 0.696 AC: 7357 AN: 10574

Middle Eastern (MID) AF: 0.816 AC: 240 AN: 294

European-Non Finnish (NFE) AF: 0.706 AC: 47964 AN: 67978

Other (OTH) AF: 0.760 AC: 1603 AN: 2110

Alfa AF: 0.731 Hom.: 60384

Bravo AF: 0.762

Asia WGS AF: 0.700 AC: 2433 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.16
DANN	Benign	0.53
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs7824074; hg19: chr8-128588822;