11-26751071-C-T

Variant names:

• chr11-26751071-C-T
• rs10835065

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 0.217 in 151,164 control chromosomes in the GnomAD database, including 3,935 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 0.22 (3935 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.154
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.335 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: 0.217 AC: 32821 AN: 151046 Hom.: 3926 Cov.: 32

Gnomad AFR AF: 0.120

Gnomad AMI AF: 0.265

Gnomad AMR AF: 0.205

Gnomad ASJ AF: 0.263

Gnomad EAS AF: 0.349

Gnomad SAS AF: 0.310

Gnomad FIN AF: 0.249

Gnomad MID AF: 0.242

Gnomad NFE AF: 0.255

Gnomad OTH AF: 0.226

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

GnomAD4 genome AF: 0.217 AC: 32849 AN: 151164 Hom.: 3935 Cov.: 32 AF XY: 0.219 AC XY: 16153 AN XY: 73850

African (AFR) AF: 0.120 AC: 4945 AN: 41294

American (AMR) AF: 0.205 AC: 3108 AN: 15138

Ashkenazi Jewish (ASJ) AF: 0.263 AC: 911 AN: 3464

East Asian (EAS) AF: 0.348 AC: 1775 AN: 5094

South Asian (SAS) AF: 0.311 AC: 1495 AN: 4808

European-Finnish (FIN) AF: 0.249 AC: 2617 AN: 10514

Middle Eastern (MID) AF: 0.240 AC: 70 AN: 292

European-Non Finnish (NFE) AF: 0.255 AC: 17198 AN: 67552

Other (OTH) AF: 0.233 AC: 488 AN: 2096

Alfa AF: 0.175 Hom.: 531

Bravo AF: 0.211

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.7
DANN	Benign	0.52
PhyloP100		0.15

Splicing

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

Other links and lift over

dbSNP: rs10835065; hg19: chr11-26772618;