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NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs) AND Qualitative or quantitative defects of dysferlin

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 2023
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:
RCV001895425.4

Allele description [Variation Report for NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs)]

NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs)
HGVS:
  • NC_000002.12:g.71570626dup
  • NG_008694.1:g.122004dup
  • NM_001130455.2:c.3062dup
  • NM_001130976.2:c.3017dup
  • NM_001130977.2:c.3017dup
  • NM_001130978.2:c.3059dup
  • NM_001130979.2:c.3152dup
  • NM_001130980.2:c.3110dup
  • NM_001130981.2:c.3110dup
  • NM_001130982.2:c.3155dup
  • NM_001130983.2:c.3062dup
  • NM_001130984.2:c.3020dup
  • NM_001130985.2:c.3113dup
  • NM_001130986.2:c.3020dup
  • NM_001130987.2:c.3113dupMANE SELECT
  • NM_003494.4:c.3059dup
  • NP_001123927.1:p.Glu1022fs
  • NP_001124448.1:p.Glu1007fs
  • NP_001124449.1:p.Glu1007fs
  • NP_001124450.1:p.Glu1021fs
  • NP_001124451.1:p.Glu1052fs
  • NP_001124452.1:p.Glu1038fs
  • NP_001124453.1:p.Glu1038fs
  • NP_001124454.1:p.Glu1053fs
  • NP_001124455.1:p.Glu1022fs
  • NP_001124456.1:p.Glu1008fs
  • NP_001124457.1:p.Glu1039fs
  • NP_001124458.1:p.Glu1008fs
  • NP_001124459.1:p.Glu1039fs
  • NP_003485.1:p.Glu1021fs
  • LRG_845t1:c.3059dup
  • LRG_845t2:c.3113dup
  • LRG_845:g.122004dup
  • LRG_845p1:p.Glu1021fs
  • LRG_845p2:p.Glu1039fs
  • NC_000002.11:g.71797750_71797751insC
  • NC_000002.11:g.71797756dup
Protein change:
E1007fs
Links:
dbSNP: rs753711667
NCBI 1000 Genomes Browser:
rs753711667
Molecular consequence:
  • NM_001130455.2:c.3062dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130976.2:c.3017dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130977.2:c.3017dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130978.2:c.3059dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130979.2:c.3152dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130980.2:c.3110dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130981.2:c.3110dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130982.2:c.3155dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130983.2:c.3062dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130984.2:c.3020dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130985.2:c.3113dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130986.2:c.3020dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130987.2:c.3113dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003494.4:c.3059dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002149255Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 16, 2023) 		germlineclinical testing

PubMed (6)
[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, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301480
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002149255.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Glu1021Glyfs*11) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 17070050, 23406536, 27666772). ClinVar contains an entry for this variant (Variation ID: 1381552). 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: Sep 29, 2024