Variant rs36211089 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The variant allele was found at a frequency of 0.376 in 320,478 control chromosomes in the GnomAD database, including 23,975 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.37 ( 11004 hom., cov: 32)

Exomes 𝑓: 0.38 ( 12971 hom. )

Consequence

Unknown

Scores

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: -0.233

Variant links:

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ACMG classification

Verdict is Benign. Variant got -20 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.88).

BP6

Variant 11-67583533-C-T is Benign according to our data. Variant chr11-67583533-C-T is described in ClinVar as [Benign]. Clinvar id is 1240658.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

BA1

GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.42 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:

56593

AN:

151514

Hom.:

11003

Cov.:

show subpopulations

Gnomad AFR

AF:

0.385

Gnomad AMI

AF:

0.384

Gnomad AMR

AF:

0.277

Gnomad ASJ

AF:

0.260

Gnomad EAS

AF:

0.157

Gnomad SAS

AF:

0.295

Gnomad FIN

AF:

0.319

Gnomad MID

AF:

0.330

Gnomad NFE

AF:

0.425

Gnomad OTH

AF:

0.371

GnomAD4 exome

AF:

0.378

AC:

63830

AN:

168856

Hom.:

12971

AF XY:

0.380

AC XY:

32552

AN XY:

85748

show subpopulations

Gnomad4 AFR exome

AF:

0.393

Gnomad4 AMR exome

AF:

0.262

Gnomad4 ASJ exome

AF:

0.264

Gnomad4 EAS exome

AF:

0.153

Gnomad4 SAS exome

AF:

0.331

Gnomad4 FIN exome

AF:

0.351

Gnomad4 NFE exome

AF:

0.425

Gnomad4 OTH exome

AF:

0.373

GnomAD4 genome

AF:

0.373

AC:

56612

AN:

151622

Hom.:

11004

Cov.:

AF XY:

0.362

AC XY:

26853

AN XY:

74102

show subpopulations

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:

0.368

Alfa

AF:

0.397

Hom.:

1575

Bravo

AF:

0.372

Asia WGS

AF:

0.241

AC:

836

AN:

3456

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

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

-0.88

CADD

Benign

3.6

DANN

Benign

0.64

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over