8-72422818-T-C

Position:

• chr8-72422818-T-C

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 0.93 in 152,146 control chromosomes in the GnomAD database, including 65,978 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 0.93 (65978 hom., cov: 30)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.37

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.975 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.72422818T>C		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.930 AC: 141409 AN: 152028 Hom.: 65923 Cov.: 30

Gnomad AFR AF: 0.978

Gnomad AMI AF: 0.925

Gnomad AMR AF: 0.944

Gnomad ASJ AF: 0.930

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.883

Gnomad FIN AF: 0.911

Gnomad MID AF: 0.908

Gnomad NFE AF: 0.899

Gnomad OTH AF: 0.929

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

GnomAD4 genome AF: 0.930 AC: 141524 AN: 152146 Hom.: 65978 Cov.: 30 AF XY: 0.931 AC XY: 69234 AN XY: 74362

Gnomad4 AFR AF: 0.978

Gnomad4 AMR AF: 0.944

Gnomad4 ASJ AF: 0.930

Gnomad4 EAS AF: 0.998

Gnomad4 SAS AF: 0.883

Gnomad4 FIN AF: 0.911

Gnomad4 NFE AF: 0.899

Gnomad4 OTH AF: 0.930

Alfa AF: 0.905 Hom.: 7270

Bravo AF: 0.935

Asia WGS AF: 0.954 AC: 3317 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.1
DANN	Benign	0.47

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs830520; hg19: chr8-73335053;