U.S. flag

An official website of the United States government

NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) AND Qualitative or quantitative defects of dysferlin

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 4, 2024
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:
RCV000808564.6

Allele description [Variation Report for NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)]

NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
Other names:
6086C>T
HGVS:
  • NC_000002.12:g.71674242C>T
  • NG_008694.1:g.225620C>T
  • NM_001130455.2:c.5716C>T
  • NM_001130976.2:c.5671C>T
  • NM_001130977.2:c.5734C>T
  • NM_001130978.2:c.5776C>T
  • NM_001130979.2:c.5806C>T
  • NM_001130980.2:c.5764C>T
  • NM_001130981.2:c.5827C>T
  • NM_001130982.2:c.5809C>T
  • NM_001130983.2:c.5779C>T
  • NM_001130984.2:c.5737C>T
  • NM_001130985.2:c.5767C>T
  • NM_001130986.2:c.5674C>T
  • NM_001130987.2:c.5830C>TMANE SELECT
  • NM_003494.4:c.5713C>T
  • NP_001123927.1:p.Arg1906Ter
  • NP_001124448.1:p.Arg1891Ter
  • NP_001124449.1:p.Arg1912Ter
  • NP_001124450.1:p.Arg1926Ter
  • NP_001124451.1:p.Arg1936Ter
  • NP_001124452.1:p.Arg1922Ter
  • NP_001124453.1:p.Arg1943Ter
  • NP_001124454.1:p.Arg1937Ter
  • NP_001124455.1:p.Arg1927Ter
  • NP_001124456.1:p.Arg1913Ter
  • NP_001124457.1:p.Arg1923Ter
  • NP_001124458.1:p.Arg1892Ter
  • NP_001124459.1:p.Arg1944Ter
  • NP_003485.1:p.Arg1905Ter
  • LRG_845t1:c.5713C>T
  • LRG_845t2:c.5830C>T
  • LRG_845:g.225620C>T
  • LRG_845p1:p.Arg1905Ter
  • LRG_845p2:p.Arg1944Ter
  • NC_000002.11:g.71901372C>T
  • NM_001130987.2:c.5830C>T
  • NM_003494.3:c.5713C>T
  • NP_003485.1:p.Arg1905*
Protein change:
R1891*; ARG1905TER
Links:
OMIM: 603009.0012; dbSNP: rs121908959
NCBI 1000 Genomes Browser:
rs121908959
Molecular consequence:
  • NM_001130455.2:c.5716C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130976.2:c.5671C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130977.2:c.5734C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130978.2:c.5776C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130979.2:c.5806C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130980.2:c.5764C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130981.2:c.5827C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130982.2:c.5809C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130983.2:c.5779C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130984.2:c.5737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130985.2:c.5767C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130986.2:c.5674C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001130987.2:c.5830C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003494.4:c.5713C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Qualitative or quantitative defects of dysferlin
Synonyms:
Dysferlinopathy
Identifiers:
MONDO: MONDO:0016145; MedGen: C2931687

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000948676Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 4, 2024) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.

Arch Neurol. 2007 Aug;64(8):1176-82.

PubMed [citation]
PMID:
17698709

Dysferlinopathy.

Aoki M, Takahashi T.

2004 Feb 5 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301480
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000948676.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Arg1905*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is present in population databases (rs121908959, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with dysferlinopathy (PMID: 16087766). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6676). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Aug 4, 2024