11-35606326-G-C

Variant names:

• chr11-35606326-G-C
• rs696250

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 0.235 in 152,048 control chromosomes in the GnomAD database, including 4,358 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 0.23 (4358 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.218
• 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 (EAS) allele frequency at 95% confidence interval = 0.296 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: 0.235 AC: 35634 AN: 151930 Hom.: 4354 Cov.: 32

Gnomad AFR AF: 0.281

Gnomad AMI AF: 0.106

Gnomad AMR AF: 0.239

Gnomad ASJ AF: 0.158

Gnomad EAS AF: 0.308

Gnomad SAS AF: 0.180

Gnomad FIN AF: 0.283

Gnomad MID AF: 0.133

Gnomad NFE AF: 0.204

Gnomad OTH AF: 0.186

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

GnomAD4 genome AF: 0.235 AC: 35681 AN: 152048 Hom.: 4358 Cov.: 32 AF XY: 0.239 AC XY: 17762 AN XY: 74352

African (AFR) AF: 0.281 AC: 11665 AN: 41440

American (AMR) AF: 0.239 AC: 3652 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.158 AC: 547 AN: 3466

East Asian (EAS) AF: 0.309 AC: 1595 AN: 5162

South Asian (SAS) AF: 0.180 AC: 869 AN: 4824

European-Finnish (FIN) AF: 0.283 AC: 2988 AN: 10566

Middle Eastern (MID) AF: 0.119 AC: 35 AN: 294

European-Non Finnish (NFE) AF: 0.204 AC: 13841 AN: 67982

Other (OTH) AF: 0.186 AC: 392 AN: 2106

Alfa AF: 0.224 Hom.: 496

Bravo AF: 0.233

Asia WGS AF: 0.247 AC: 859 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	4.4
DANN	Benign	0.63
PhyloP100		0.22

Splicing

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

Other links and lift over

dbSNP: rs696250; hg19: chr11-35627874;