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NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 8, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001869834.1

Allele description [Variation Report for NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter)]

NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter)

Gene:
DNAJC21:DnaJ heat shock protein family (Hsp40) member C21 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter)
HGVS:
  • NC_000005.10:g.34933865C>T
  • NG_052822.1:g.9326C>T
  • NM_001012339.3:c.148C>TMANE SELECT
  • NM_001348420.2:c.148C>T
  • NM_194283.4:c.148C>T
  • NP_001012339.2:p.Gln50Ter
  • NP_001335349.1:p.Gln50Ter
  • NP_919259.3:p.Gln50Ter
  • LRG_1214t1:c.148C>T
  • LRG_1214:g.9326C>T
  • LRG_1214p1:p.Gln50Ter
  • NC_000005.9:g.34933970C>T
Protein change:
Q50*
Molecular consequence:
  • NM_001012339.3:c.148C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348420.2:c.148C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_194283.4:c.148C>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002195890Invitaecriteria provided, single submitter
Pathogenic
(Dec 8, 2021)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, Vulliamy T.

Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23.

PubMed [citation]
PMID:
27346687
PMCID:
PMC5005432

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y.

Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. No abstract available.

PubMed [citation]
PMID:
28062395
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002195890.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln50*) in the DNAJC21 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAJC21 are known to be pathogenic (PMID: 27346687, 28062395). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DNAJC21-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Apr 23, 2022

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