NM_001927.4(DES):c.347A>T (p.Asn116Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 2, 2015
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:: RCV000217696.4

Allele description [Variation Report for NM_001927.4(DES):c.347A>T (p.Asn116Ile)]

NM_001927.4(DES):c.347A>T (p.Asn116Ile)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.347A>T (p.Asn116Ile)

HGVS:

NC_000002.12:g.219418809A>T
NG_008043.1:g.5433A>T
NM_001927.4:c.347A>TMANE SELECT
NP_001918.3:p.Asn116Ile
LRG_380t1:c.347A>T
LRG_380:g.5433A>T
NC_000002.11:g.220283531A>T
NM_001927.3:c.347A>T

Protein change:

N116I

Links:

dbSNP: rs267607499

NCBI 1000 Genomes Browser:

rs267607499

Molecular consequence:

NM_001927.4:c.347A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000271619	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jul 2, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20829228, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000271619

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jul 2, 2015)

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

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H.

Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9.

PubMed [citation]

PMID:: 20829228

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, SCV000271619.2

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

Description

The p.Asn116Ile variant in DES has not been previously reported in individuals w ith cardiomyopathy. Of note, a different amino acid alteration at this position (p.Asn116Ser) has been reported de novo in 1 individual with early-onset ARVC an d myofibrillar myopathy (Klauke 2010). Data from large population studies is ins ufficient to assess the frequency of this variant. Computational prediction tool s and conservation analysis suggest that the p.Asn116Ile variant may impact the protein, though this information is not predictive enough to determine pathogeni city. In summary, the clinical significance of the p.Asn116Ile variant is uncert ain.

#	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: Mar 5, 2024

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