chr8-614000-C-T

Position:

• chr8-614000-C-T

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.833

Gnomad4 AMR AF: 0.806

Gnomad4 ASJ AF: 0.778

Gnomad4 EAS AF: 0.989

Gnomad4 SAS AF: 0.760

Gnomad4 FIN AF: 0.731

Gnomad4 NFE AF: 0.686

Gnomad4 OTH AF: 0.751

Alfa AF: 0.704 Hom.: 59902

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1669699; hg19: chr8-564000;