8-26261835-C-T

Variant names:

• chr8-26261835-C-T
• rs11135929

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 0.946 in 152,276 control chromosomes in the GnomAD database, including 68,185 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 0.95 (68185 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.419
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.977 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: 0.946 AC: 143920 AN: 152158 Hom.: 68124 Cov.: 32

Gnomad AFR AF: 0.979

Gnomad AMI AF: 0.876

Gnomad AMR AF: 0.942

Gnomad ASJ AF: 0.878

Gnomad EAS AF: 1.00

Gnomad SAS AF: 0.982

Gnomad FIN AF: 0.958

Gnomad MID AF: 0.848

Gnomad NFE AF: 0.924

Gnomad OTH AF: 0.923

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

GnomAD4 genome AF: 0.946 AC: 144039 AN: 152276 Hom.: 68185 Cov.: 32 AF XY: 0.948 AC XY: 70569 AN XY: 74460

African (AFR) AF: 0.979 AC: 40678 AN: 41558

American (AMR) AF: 0.942 AC: 14405 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.878 AC: 3047 AN: 3472

East Asian (EAS) AF: 1.00 AC: 5187 AN: 5188

South Asian (SAS) AF: 0.982 AC: 4740 AN: 4828

European-Finnish (FIN) AF: 0.958 AC: 10147 AN: 10594

Middle Eastern (MID) AF: 0.847 AC: 249 AN: 294

European-Non Finnish (NFE) AF: 0.924 AC: 62833 AN: 68026

Other (OTH) AF: 0.924 AC: 1956 AN: 2116

Alfa AF: 0.931 Hom.: 47446

Bravo AF: 0.944

Asia WGS AF: 0.988 AC: 3430 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.64
DANN	Benign	0.28
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs11135929; hg19: chr8-26119351;