8-614000-C-T

Variant names:

• chr8-614000-C-T
• rs1669699

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 0.757 in 152,156 control chromosomes in the GnomAD database, including 44,037 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 0.76 (44037 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.256
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.966 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: 0.757 AC: 115045 AN: 152036 Hom.: 43983 Cov.: 32

Gnomad AFR AF: 0.833

Gnomad AMI AF: 0.689

Gnomad AMR AF: 0.806

Gnomad ASJ AF: 0.778

Gnomad EAS AF: 0.989

Gnomad SAS AF: 0.758

Gnomad FIN AF: 0.731

Gnomad MID AF: 0.737

Gnomad NFE AF: 0.686

Gnomad OTH AF: 0.748

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

GnomAD4 genome AF: 0.757 AC: 115163 AN: 152156 Hom.: 44037 Cov.: 32 AF XY: 0.763 AC XY: 56731 AN XY: 74386

African (AFR) AF: 0.833 AC: 34554 AN: 41506

American (AMR) AF: 0.806 AC: 12324 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.778 AC: 2699 AN: 3468

East Asian (EAS) AF: 0.989 AC: 5109 AN: 5168

South Asian (SAS) AF: 0.760 AC: 3665 AN: 4824

European-Finnish (FIN) AF: 0.731 AC: 7744 AN: 10596

Middle Eastern (MID) AF: 0.748 AC: 220 AN: 294

European-Non Finnish (NFE) AF: 0.686 AC: 46633 AN: 67984

Other (OTH) AF: 0.751 AC: 1587 AN: 2112

Alfa AF: 0.716 Hom.: 103007

Bravo AF: 0.768

Asia WGS AF: 0.876 AC: 3043 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.41
DANN	Benign	0.50
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs1669699; hg19: chr8-564000;