8-72422818-T-C

Variant names:

• chr8-72422818-T-C
• rs830520

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 0.93 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: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.37
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.978 AC: 40606 AN: 41514

American (AMR) AF: 0.944 AC: 14395 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.930 AC: 3229 AN: 3472

East Asian (EAS) AF: 0.998 AC: 5149 AN: 5158

South Asian (SAS) AF: 0.883 AC: 4256 AN: 4822

European-Finnish (FIN) AF: 0.911 AC: 9665 AN: 10608

Middle Eastern (MID) AF: 0.912 AC: 268 AN: 294

European-Non Finnish (NFE) AF: 0.899 AC: 61154 AN: 68016

Other (OTH) AF: 0.930 AC: 1958 AN: 2106

Alfa AF: 0.908 Hom.: 7633

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
PhyloP100		-2.4

Splicing

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

Other links and lift over

dbSNP: rs830520; hg19: chr8-73335053;