rs4897732

Variant names:

• chr8-133834489-A-G
• rs4897732

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 0.167 in 152,166 control chromosomes in the GnomAD database, including 2,539 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 0.17 (2539 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.121
• Publications: 1 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 (SAS) allele frequency at 95% confidence interval = 0.373 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: 0.167 AC: 25352 AN: 152048 Hom.: 2532 Cov.: 32

Gnomad AFR AF: 0.0695

Gnomad AMI AF: 0.164

Gnomad AMR AF: 0.153

Gnomad ASJ AF: 0.244

Gnomad EAS AF: 0.204

Gnomad SAS AF: 0.388

Gnomad FIN AF: 0.233

Gnomad MID AF: 0.264

Gnomad NFE AF: 0.195

Gnomad OTH AF: 0.194

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

GnomAD4 genome AF: 0.167 AC: 25363 AN: 152166 Hom.: 2539 Cov.: 32 AF XY: 0.174 AC XY: 12940 AN XY: 74378

African (AFR) AF: 0.0695 AC: 2886 AN: 41532

American (AMR) AF: 0.153 AC: 2337 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.244 AC: 847 AN: 3470

East Asian (EAS) AF: 0.205 AC: 1059 AN: 5172

South Asian (SAS) AF: 0.388 AC: 1867 AN: 4816

European-Finnish (FIN) AF: 0.233 AC: 2469 AN: 10584

Middle Eastern (MID) AF: 0.271 AC: 79 AN: 292

European-Non Finnish (NFE) AF: 0.195 AC: 13253 AN: 68000

Other (OTH) AF: 0.198 AC: 416 AN: 2106

Alfa AF: 0.185 Hom.: 8778

Bravo AF: 0.149

Asia WGS AF: 0.294 AC: 1023 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	1.1
DANN	Benign	0.49
PhyloP100		0.12

Splicing

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

Other links and lift over

dbSNP: rs4897732; hg19: chr8-134846732;