rs36211088

Positions:

• chr11-67583528-C-A

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_Strong BP6_Very_Strong BA1

The variant allele was found at a frequency of 0.375 in 312,834 control chromosomes in the GnomAD database, including 23,278 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

• Frequency:
  • Genomes: 𝑓 0.37 (11014 hom., cov: 32)
  • Exomes 𝑓: 0.38 (12264 hom.)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, multiple submitters, no conflicts B:2
• Conservation: PhyloP100: -1.05

ACMG classification

Verdict is Benign. Variant got -20 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BP6: Variant 11-67583528-C-A is Benign according to our data. Variant chr11-67583528-C-A is described in ClinVar as [Benign]. Clinvar id is 1249154.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.421 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.374 AC: 56611 AN: 151490 Hom.: 11013 Cov.: 32

Gnomad AFR AF: 0.385

Gnomad AMI AF: 0.384

Gnomad AMR AF: 0.277

Gnomad ASJ AF: 0.260

Gnomad EAS AF: 0.158

Gnomad SAS AF: 0.296

Gnomad FIN AF: 0.319

Gnomad MID AF: 0.330

Gnomad NFE AF: 0.425

Gnomad OTH AF: 0.370

GnomAD4 exome AF: 0.377 AC: 60725 AN: 161240 Hom.: 12264 AF XY: 0.379 AC XY: 31002 AN XY: 81870

Gnomad4 AFR exome AF: 0.395

Gnomad4 AMR exome AF: 0.265

Gnomad4 ASJ exome AF: 0.266

Gnomad4 EAS exome AF: 0.154

Gnomad4 SAS exome AF: 0.304

Gnomad4 FIN exome AF: 0.349

Gnomad4 NFE exome AF: 0.423

Gnomad4 OTH exome AF: 0.373

GnomAD4 genome AF: 0.374 AC: 56629 AN: 151594 Hom.: 11014 Cov.: 32 AF XY: 0.363 AC XY: 26854 AN XY: 74064

Gnomad4 AFR AF: 0.385

Gnomad4 AMR AF: 0.277

Gnomad4 ASJ AF: 0.260

Gnomad4 EAS AF: 0.157

Gnomad4 SAS AF: 0.294

Gnomad4 FIN AF: 0.319

Gnomad4 NFE AF: 0.425

Gnomad4 OTH AF: 0.367

Alfa AF: 0.390 Hom.: 1502

Bravo AF: 0.372

Asia WGS AF: 0.242 AC: 829 AN: 3422

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Benign:2

Benign, criteria provided, single submitter	clinical testing	GeneDx	Jun 19, 2021	- -
Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.3
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs36211088; hg19: chr11-67350999;