NM_001927.4(DES):c.35C>T (p.Ser12Phe) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 3, 2010
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:: RCV000154600.4

Allele description [Variation Report for NM_001927.4(DES):c.35C>T (p.Ser12Phe)]

NM_001927.4(DES):c.35C>T (p.Ser12Phe)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.35C>T (p.Ser12Phe)

HGVS:

NC_000002.12:g.219418497C>T
NG_008043.1:g.5121C>T
NG_046330.1:g.18889C>T
NM_001927.4:c.35C>TMANE SELECT
NP_001918.3:p.Ser12Phe
LRG_380t1:c.35C>T
LRG_380:g.5121C>T
NC_000002.11:g.220283219C>T
NM_001927.3:c.35C>T

Protein change:

S12F

Links:

dbSNP: rs267607495

NCBI 1000 Genomes Browser:

rs267607495

Molecular consequence:

NM_001927.4:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

Name:: Neuromuscular disease
Synonyms:: Neuromuscular Diseases; Neuromuscular disorder; Neuromyopathy
Identifiers:: MONDO: MONDO:0019056; MeSH: D009468; MedGen: C0027868

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000204273	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Nov 3, 2010)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20696008, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000204273

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Nov 3, 2010)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

Hong D, Wang Z, Zhang W, Xi J, Lu J, Luan X, Yuan Y.

Neuropathol Appl Neurobiol. 2011 Apr;37(3):257-70. doi: 10.1111/j.1365-2990.2010.01112.x.

PubMed [citation]

PMID:: 20696008

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204273.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

The Ser12Phe variant has been reported in one Chinese individual with desminopat hy as well as 3 affected family members. The variant was absent from 200 race ma tched control chromosomes and caused abnormal desmin fiber aggregates in the cyt oplasm, supporting a pathogenic role (Hong 2010). In addition, serine (Ser) at position 12 is conserved across evolutionary distant species, further increasing the likelihood that the change is pathogenic. Finally, this individual has cli nical features consistent with a variant in desmin. In summary, it is highly li kely that this variant pathogenic.

#	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		1	not provided	1	not provided

Last Updated: Sep 29, 2024

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