8-49236274-A-G

Variant names:

• chr8-49236274-A-G
• rs1383279

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 0.847 in 152,134 control chromosomes in the GnomAD database, including 56,672 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 0.85 (56672 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.626
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.949 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.847 AC: 128755 AN: 152016 Hom.: 56627 Cov.: 32

Gnomad AFR AF: 0.579

Gnomad AMI AF: 0.996

Gnomad AMR AF: 0.911

Gnomad ASJ AF: 0.968

Gnomad EAS AF: 0.962

Gnomad SAS AF: 0.971

Gnomad FIN AF: 0.963

Gnomad MID AF: 0.953

Gnomad NFE AF: 0.950

Gnomad OTH AF: 0.866

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

GnomAD4 genome AF: 0.847 AC: 128856 AN: 152134 Hom.: 56672 Cov.: 32 AF XY: 0.852 AC XY: 63345 AN XY: 74372

African (AFR) AF: 0.580 AC: 24041 AN: 41446

American (AMR) AF: 0.911 AC: 13938 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.968 AC: 3362 AN: 3472

East Asian (EAS) AF: 0.962 AC: 4969 AN: 5164

South Asian (SAS) AF: 0.972 AC: 4693 AN: 4828

European-Finnish (FIN) AF: 0.963 AC: 10208 AN: 10604

Middle Eastern (MID) AF: 0.946 AC: 278 AN: 294

European-Non Finnish (NFE) AF: 0.950 AC: 64630 AN: 68008

Other (OTH) AF: 0.868 AC: 1829 AN: 2108

Alfa AF: 0.870 Hom.: 7632

Bravo AF: 0.832

Asia WGS AF: 0.949 AC: 3298 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.29
DANN	Benign	0.36
PhyloP100		-0.63

Splicing

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

Other links and lift over

dbSNP: rs1383279; hg19: chr8-50148833;