Variant chr11-34071722-A-G details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2

The ENST00000341394.9(CAPRIN1):c.217-4A>G variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00402 in 1,605,760 control chromosomes in the GnomAD database, including 33 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0037 ( 1 hom., cov: 32)

Exomes 𝑓: 0.0041 ( 32 hom. )

Consequence

CAPRIN1
ENST00000341394.9 splice_region, splice_polypyrimidine_tract, intron

Scores

Splicing: ADA: 0.00005737

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.287

Variant links:

Genes affected

CAPRIN1 (HGNC:6743): (cell cycle associated protein 1) Enables RNA binding activity. Predicted to be involved in negative regulation of translation and positive regulation of dendritic spine morphogenesis. Located in cell leading edge and cytosol. [provided by Alliance of Genome Resources, Apr 2022]

CAPRIN1 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -8 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.8).

BS2

High Homozygotes in GnomAdExome4 at 32 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CAPRIN1	NM_005898.5 linkuse as main transcript	c.217-4A>G		splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant		ENST00000341394.9	NP_005889.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CAPRIN1	ENST00000341394.9 linkuse as main transcript	c.217-4A>G		splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant		1	NM_005898.5	ENSP00000340329	P2	Q14444-1

Frequencies

GnomAD3 genomes

AF:

0.00365

AC:

556

AN:

152194

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.000386

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00373

Gnomad ASJ

AF:

0.00346

Gnomad EAS

AF:

0.000385

Gnomad SAS

AF:

0.00972

Gnomad FIN

AF:

0.00622

Gnomad MID

AF:

0.0158

Gnomad NFE

AF:

0.00504

Gnomad OTH

AF:

0.00383

GnomAD3 exomes

AF:

0.00454

AC:

1139

AN:

250928

Hom.:

AF XY:

0.00489

AC XY:

663

AN XY:

135662

show subpopulations

Gnomad AFR exome

AF:

0.000739

Gnomad AMR exome

AF:

0.00259

Gnomad ASJ exome

AF:

0.00377

Gnomad EAS exome

AF:

0.00

Gnomad SAS exome

AF:

0.00908

Gnomad FIN exome

AF:

0.00721

Gnomad NFE exome

AF:

0.00471

Gnomad OTH exome

AF:

0.00523

GnomAD4 exome

AF:

0.00406

AC:

5906

AN:

1453448

Hom.:

Cov.:

AF XY:

0.00424

AC XY:

3070

AN XY:

723764

show subpopulations

Gnomad4 AFR exome

AF:

0.000421

Gnomad4 AMR exome

AF:

0.00260

Gnomad4 ASJ exome

AF:

0.00426

Gnomad4 EAS exome

AF:

0.00

Gnomad4 SAS exome

AF:

0.00882

Gnomad4 FIN exome

AF:

0.00691

Gnomad4 NFE exome

AF:

0.00376

Gnomad4 OTH exome

AF:

0.00541

GnomAD4 genome

AF:

0.00365

AC:

556

AN:

152312

Hom.:

Cov.:

AF XY:

0.00392

AC XY:

292

AN XY:

74464

show subpopulations

Gnomad4 AFR

AF:

0.000385

Gnomad4 AMR

AF:

0.00373

Gnomad4 ASJ

AF:

0.00346

Gnomad4 EAS

AF:

0.000386

Gnomad4 SAS

AF:

0.00993

Gnomad4 FIN

AF:

0.00622

Gnomad4 NFE

AF:

0.00504

Gnomad4 OTH

AF:

0.00379

Alfa

AF:

0.00401

Hom.:

Bravo

AF:

0.00272

Asia WGS

AF:

0.00375

AC:

AN:

3478

EpiCase

AF:

0.00644

EpiControl

AF:

0.00439

ClinVar

Significance: Likely benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Benign:1

Likely benign, criteria provided, single submitter

clinical testing

CeGaT Center for Human Genetics Tuebingen

Oct 01, 2024

CAPRIN1: BP4, BS2 -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.80

CADD

Benign

7.6

DANN

Benign

0.63

RBP_binding_hub_radar

0.0

RBP_regulation_power_radar

1.1

Splicing

Name

Calibrated prediction

Score

Prediction

dbscSNV1_ADA

Benign

0.000057

dbscSNV1_RF

Benign

0.0

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