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NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val) AND Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 26, 2018
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:
RCV000210839.3

Allele description [Variation Report for NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)]

NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)

Gene:
DNAJB6:DnaJ heat shock protein family (Hsp40) member B6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.3
Genomic location:
Preferred name:
NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)
HGVS:
  • NC_000007.14:g.157367435T>G
  • NG_032573.1:g.35420T>G
  • NM_001363676.1:c.298T>G
  • NM_005494.3:c.298T>G
  • NM_058246.4:c.298T>GMANE SELECT
  • NP_001350605.1:p.Phe100Val
  • NP_005485.1:p.Phe100Val
  • NP_490647.1:p.Phe100Val
  • NC_000007.13:g.157160129T>G
  • NM_058246.3:c.298T>G
Protein change:
F100V; PHE100VAL
Links:
OMIM: 611332.0006; dbSNP: rs869320700
NCBI 1000 Genomes Browser:
rs869320700
Molecular consequence:
  • NM_001363676.1:c.298T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005494.3:c.298T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058246.4:c.298T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) (LGMDD1)
Synonyms:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; Autosomal dominant limb-girdle muscular dystrophy type 1D; MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021018; MedGen: C4721885; Orphanet: 34516; OMIM: 603511

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267112OMIM
no assertion criteria provided
Pathogenic
(Sep 26, 2018) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.

Servidei S, Capon F, Spinazzola A, Mirabella M, Semprini S, de Rosa G, Gennarelli M, Sangiuolo F, Ricci E, Mohrenweiser HW, Dallapiccola B, Tonali P, Novelli G.

Neurology. 1999 Sep 11;53(4):830-7.

PubMed [citation]
PMID:
10489050

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA.

Acta Neuropathol Commun. 2015 Jul 25;3:44. doi: 10.1186/s40478-015-0224-0.

PubMed [citation]
PMID:
26205529
PMCID:
PMC4513909

Details of each submission

From OMIM, SCV000267112.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected members of a large Italian family with limb-girdle muscular dystrophy type 1E (LGMDD1; 603511), originally reported by Servidei et al. (1999), Ruggieri et al. (2015) identified a heterozygous c.298T-G transversion in the DNAJ6 gene, resulting in a phe100-to-val (F100V) substitution at a highly conserved residue in the G/F domain. The mutation, which was found using a combination of linkage analysis and exome sequencing, segregated with the disorder in the family and was not found in the dbSNP (build 142), 1000 Genomes Project, Exome Sequencing Project, or ExAC databases. One 30-year-old clinically unaffected family member also carried the mutation. The distribution of muscle weakness in affected family members tended to be more distal than proximal.

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

Last Updated: Apr 15, 2024