3-132434209-C-CA

Position:

• chr3-132434209-C-CA

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_015268.4(DNAJC13):​c.-13-317dup variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.133 in 107,208 control chromosomes in the GnomAD database, including 942 homozygotes. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.13 (942 hom., cov: 26)
• Consequence: DNAJC13 NM_015268.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.260

Genes affected

DNAJC13 (HGNC:30343): (DnaJ heat shock protein family (Hsp40) member C13) This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 3-132434209-C-CA is Benign according to our data. Variant chr3-132434209-C-CA is described in ClinVar as [Benign]. Clinvar id is 1286197.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.182 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DNAJC13	NM_015268.4	c.-13-317dup		intron_variant		ENST00000260818.11	NP_056083.3
DNAJC13	NM_001329126.2	c.-13-317dup		intron_variant			NP_001316055.1
DNAJC13	XM_047447819.1	c.-13-317dup		intron_variant			XP_047303775.1
DNAJC13	XM_047447820.1	c.-13-317dup		intron_variant			XP_047303776.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DNAJC13	ENST00000260818.11	c.-13-317dup		intron_variant		1	NM_015268.4	ENSP00000260818	P1
DNAJC13	ENST00000486798.5	n.53-317dup		intron_variant, non_coding_transcript_variant		1
DNAJC13	ENST00000650455.1	c.-13-317dup		intron_variant, NMD_transcript_variant				ENSP00000496825

Frequencies

GnomAD3 genomes AF: 0.133 AC: 14273 AN: 107172 Hom.: 943 Cov.: 26

Gnomad AFR AF: 0.0366

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.177

Gnomad ASJ AF: 0.183

Gnomad EAS AF: 0.150

Gnomad SAS AF: 0.193

Gnomad FIN AF: 0.223

Gnomad MID AF: 0.181

Gnomad NFE AF: 0.158

Gnomad OTH AF: 0.137

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

GnomAD4 genome AF: 0.133 AC: 14266 AN: 107208 Hom.: 942 Cov.: 26 AF XY: 0.137 AC XY: 6912 AN XY: 50458

Gnomad4 AFR AF: 0.0366

Gnomad4 AMR AF: 0.177

Gnomad4 ASJ AF: 0.183

Gnomad4 EAS AF: 0.149

Gnomad4 SAS AF: 0.194

Gnomad4 FIN AF: 0.223

Gnomad4 NFE AF: 0.158

Gnomad4 OTH AF: 0.136

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Oct 05, 2019

- -

Computational scores

Source: dbNSFP v4.3

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

Other links and lift over

dbSNP: rs544393571; hg19: chr3-132153053;