rs360968

Variant names:

• chr8-52986074-A-G
• rs360968

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 0.155 in 152,070 control chromosomes in the GnomAD database, including 1,986 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 0.15 (1986 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0290
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.191 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.155 AC: 23525 AN: 151952 Hom.: 1987 Cov.: 32

Gnomad AFR AF: 0.101

Gnomad AMI AF: 0.147

Gnomad AMR AF: 0.131

Gnomad ASJ AF: 0.185

Gnomad EAS AF: 0.0156

Gnomad SAS AF: 0.135

Gnomad FIN AF: 0.208

Gnomad MID AF: 0.263

Gnomad NFE AF: 0.194

Gnomad OTH AF: 0.173

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

GnomAD4 genome AF: 0.155 AC: 23527 AN: 152070 Hom.: 1986 Cov.: 32 AF XY: 0.155 AC XY: 11527 AN XY: 74324

African (AFR) AF: 0.101 AC: 4203 AN: 41502

American (AMR) AF: 0.131 AC: 2006 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.185 AC: 643 AN: 3468

East Asian (EAS) AF: 0.0159 AC: 82 AN: 5164

South Asian (SAS) AF: 0.134 AC: 646 AN: 4822

European-Finnish (FIN) AF: 0.208 AC: 2193 AN: 10548

Middle Eastern (MID) AF: 0.259 AC: 76 AN: 294

European-Non Finnish (NFE) AF: 0.194 AC: 13185 AN: 67964

Other (OTH) AF: 0.170 AC: 359 AN: 2112

Alfa AF: 0.181 Hom.: 11076

Bravo AF: 0.146

Asia WGS AF: 0.0790 AC: 274 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.9
DANN	Benign	0.64
PhyloP100		-0.029

Splicing

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

Other links and lift over

dbSNP: rs360968; hg19: chr8-53898634;