8-26961736-C-G

Variant names:

• chr8-26961736-C-G
• rs1351499

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 0.407 in 152,072 control chromosomes in the GnomAD database, including 12,647 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 0.41 (12647 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.188
• 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 (AFR) allele frequency at 95% confidence interval = 0.437 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: 0.406 AC: 61761 AN: 151954 Hom.: 12623 Cov.: 33

Gnomad AFR AF: 0.442

Gnomad AMI AF: 0.435

Gnomad AMR AF: 0.422

Gnomad ASJ AF: 0.312

Gnomad EAS AF: 0.426

Gnomad SAS AF: 0.404

Gnomad FIN AF: 0.369

Gnomad MID AF: 0.401

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.386

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

GnomAD4 genome AF: 0.407 AC: 61832 AN: 152072 Hom.: 12647 Cov.: 33 AF XY: 0.409 AC XY: 30377 AN XY: 74342

African (AFR) AF: 0.442 AC: 18344 AN: 41476

American (AMR) AF: 0.422 AC: 6452 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.312 AC: 1083 AN: 3468

East Asian (EAS) AF: 0.426 AC: 2201 AN: 5168

South Asian (SAS) AF: 0.403 AC: 1942 AN: 4818

European-Finnish (FIN) AF: 0.369 AC: 3904 AN: 10568

Middle Eastern (MID) AF: 0.394 AC: 115 AN: 292

European-Non Finnish (NFE) AF: 0.391 AC: 26579 AN: 67976

Other (OTH) AF: 0.386 AC: 815 AN: 2112

Alfa AF: 0.244 Hom.: 556

Bravo AF: 0.413

Asia WGS AF: 0.396 AC: 1379 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	2.8
DANN	Benign	0.36
PhyloP100		0.19

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs1351499; hg19: chr8-26819253;