NM_001927.4(DES):c.360C>T (p.Ala120=) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Sep 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000651557.1

Allele description [Variation Report for NM_001927.4(DES):c.360C>T (p.Ala120=)]

NM_001927.4(DES):c.360C>T (p.Ala120=)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.360C>T (p.Ala120=)
HGVS:
  • NC_000002.12:g.219418822C>T
  • NG_008043.1:g.5446C>T
  • NM_001927.4:c.360C>TMANE SELECT
  • NP_001918.3:p.Ala120=
  • LRG_380t1:c.360C>T
  • LRG_380:g.5446C>T
  • NC_000002.11:g.220283544C>T
  • NM_001927.3:c.360C>T
Links:
dbSNP: rs1553603246
NCBI 1000 Genomes Browser:
rs1553603246
Molecular consequence:
  • NM_001927.4:c.360C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Myofibrillar myopathy 1 (MFM1)
Synonyms:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Desminopathy; Desmin related myopathy (former name); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 98909; OMIM: 601419
Name:
Muscular dystrophy, limb-girdle, type 2R (LGMD2R)
Synonyms:
Autosomal recessive limb-girdle muscular dystrophy type 2R
Identifiers:
MONDO: MONDO:0014129; MedGen: C3809137; Orphanet: 363543

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000773411Invitaecriteria provided, single submitter
Likely benign
(Sep 5, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000773411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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