Variant 3-52576497-T-C details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1

The ENST00000707071.1(PBRM1):c.3736+44A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0379 in 1,498,652 control chromosomes in the GnomAD database, including 5,055 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.11 ( 2555 hom., cov: 31)

Exomes 𝑓: 0.029 ( 2500 hom. )

Consequence

PBRM1
ENST00000707071.1 intron

Scores

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.110

Variant links:

Genes affected

PBRM1 (HGNC:30064): (polybromo 1) This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]

PBRM1 links:

UQCC5 (HGNC:37257): (ubiquinol-cytochrome c reductase complex assembly factor 5) Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

UQCC5 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -14 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.82).

BP6

Variant 3-52576497-T-C is Benign according to our data. Variant chr3-52576497-T-C is described in ClinVar as [Benign]. Clinvar id is 1222112.Status of the report is criteria_provided_single_submitter, 1 stars.

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.34 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PBRM1	NM_001405607.1 linkuse as main transcript	c.3736+44A>G		intron_variant		ENST00000707071.1
PBRM1	NR_175959.1 linkuse as main transcript	n.3913+44A>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PBRM1	ENST00000707071.1 linkuse as main transcript	c.3736+44A>G		intron_variant			NM_001405607.1	A1

Frequencies

GnomAD3 genomes

AF:

0.112

AC:

17093

AN:

151982

Hom.:

2545

Cov.:

show subpopulations

Gnomad AFR

AF:

0.345

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.0589

Gnomad ASJ

AF:

0.0144

Gnomad EAS

AF:

0.000384

Gnomad SAS

AF:

0.0390

Gnomad FIN

AF:

0.00584

Gnomad MID

AF:

0.0570

Gnomad NFE

AF:

0.0214

Gnomad OTH

AF:

0.0903

GnomAD3 exomes

AF:

0.0444

AC:

9472

AN:

213508

Hom.:

1014

AF XY:

0.0382

AC XY:

4436

AN XY:

116074

show subpopulations

Gnomad AFR exome

AF:

0.351

Gnomad AMR exome

AF:

0.0302

Gnomad ASJ exome

AF:

0.0157

Gnomad EAS exome

AF:

0.000184

Gnomad SAS exome

AF:

0.0351

Gnomad FIN exome

AF:

0.00681

Gnomad NFE exome

AF:

0.0204

Gnomad OTH exome

AF:

0.0332

GnomAD4 exome

AF:

0.0294

AC:

39586

AN:

1346554

Hom.:

2500

Cov.:

AF XY:

0.0287

AC XY:

19255

AN XY:

670832

show subpopulations

Gnomad4 AFR exome

AF:

0.366

Gnomad4 AMR exome

AF:

0.0341

Gnomad4 ASJ exome

AF:

0.0160

Gnomad4 EAS exome

AF:

0.000180

Gnomad4 SAS exome

AF:

0.0371

Gnomad4 FIN exome

AF:

0.00611

Gnomad4 NFE exome

AF:

0.0208

Gnomad4 OTH exome

AF:

0.0436

GnomAD4 genome

AF:

0.113

AC:

17140

AN:

152098

Hom.:

2555

Cov.:

AF XY:

0.109

AC XY:

8130

AN XY:

74382

show subpopulations

Gnomad4 AFR

AF:

0.345

Gnomad4 AMR

AF:

0.0588

Gnomad4 ASJ

AF:

0.0144

Gnomad4 EAS

AF:

0.000385

Gnomad4 SAS

AF:

0.0393

Gnomad4 FIN

AF:

0.00584

Gnomad4 NFE

AF:

0.0214

Gnomad4 OTH

AF:

0.0898

Alfa

AF:

0.0545

Hom.:

190

Bravo

AF:

0.128

Asia WGS

AF:

0.0390

AC:

136

AN:

3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Jun 23, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.82

Cadd

Benign

7.9

Dann

Benign

0.58

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.0

Details are displayed if max score is > 0.2

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