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NM_006260.5(DNAJC3):c.1469C>A (p.Pro490His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 22, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003275291.2

Allele description [Variation Report for NM_006260.5(DNAJC3):c.1469C>A (p.Pro490His)]

NM_006260.5(DNAJC3):c.1469C>A (p.Pro490His)

Gene:
DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q32.1
Genomic location:
Preferred name:
NM_006260.5(DNAJC3):c.1469C>A (p.Pro490His)
HGVS:
  • NC_000013.11:g.95790984C>A
  • NG_041830.1:g.118846C>A
  • NM_006260.5:c.1469C>AMANE SELECT
  • NP_006251.1:p.Pro490His
  • NC_000013.10:g.96443238C>A
  • NM_006260.4:c.1469C>A
Protein change:
P490H
Molecular consequence:
  • NM_006260.5:c.1469C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003960725Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003960725.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1469C>A (p.P490H) alteration is located in exon 12 (coding exon 12) of the DNAJC3 gene. This alteration results from a C to A substitution at nucleotide position 1469, causing the proline (P) at amino acid position 490 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024