NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter) AND Bone marrow failure syndrome 3

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 30, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000754769.1

Allele description [Variation Report for NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter)]

NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter)

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.520C>T (p.Gln174Ter)

HGVS:

NC_000005.10:g.34937407C>T
NG_052822.1:g.12868C>T
NM_001012339.3:c.520C>TMANE SELECT
NM_001348420.2:c.520C>T
NM_194283.4:c.520C>T
NP_001012339.2:p.Gln174Ter
NP_001335349.1:p.Gln174Ter
NP_919259.3:p.Gln174Ter
LRG_1214t1:c.520C>T
LRG_1214:g.12868C>T
LRG_1214p1:p.Gln174Ter
NC_000005.9:g.34937512C>T
NM_001012339.2:c.520C>T

Protein change:

Q174*; GLN174TER

Links:

OMIM: 617048.0005; dbSNP: rs1561183139

NCBI 1000 Genomes Browser:

rs1561183139

Molecular consequence:

NM_001012339.3:c.520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348420.2:c.520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_194283.4:c.520C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Bone marrow failure syndrome 3 (BMFS3)
Identifiers:: MONDO: MONDO:0014887; MedGen: C4310744; OMIM: 617052

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000882659	OMIM	no assertion criteria provided	Pathogenic (Jan 30, 2019)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004035940	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000882659

OMIM

no assertion criteria provided

Pathogenic
(Jan 30, 2019)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV004035940

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

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

Details of each submission

From OMIM, SCV000882659.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a girl, born of consanguineous Afghan parents (family 1), with bone marrow failure syndrome-3 (BMFS3; 617052), Dhanraj et al. (2017) identified a homozygous c.520C-T transition (c.520C-T, NM_001012339.2) in exon 5 of the DNAJC21 gene, resulting in a gln174-to-ter (Q174X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient cells showed markedly reduced DNAJC21 protein levels compared to controls.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV004035940.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 23, 2023

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