NM_001130987.2(DYSF):c.389del (p.Ala130fs) AND Qualitative or quantitative defects of dysferlin

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 10, 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:: RCV003735316.2

Allele description [Variation Report for NM_001130987.2(DYSF):c.389del (p.Ala130fs)]

NM_001130987.2(DYSF):c.389del (p.Ala130fs)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.389del (p.Ala130fs)

HGVS:

NC_000002.12:g.71511850del
NG_008694.1:g.63228del
NM_001130455.2:c.389del
NM_001130976.2:c.386del
NM_001130977.2:c.386del
NM_001130978.2:c.386del
NM_001130979.2:c.386del
NM_001130980.2:c.386del
NM_001130981.2:c.386del
NM_001130982.2:c.389del
NM_001130983.2:c.389del
NM_001130984.2:c.389del
NM_001130985.2:c.389del
NM_001130986.2:c.389del
NM_001130987.2:c.389delMANE SELECT
NM_003494.4:c.386del
NP_001123927.1:p.Ala130fs
NP_001124448.1:p.Ala129fs
NP_001124449.1:p.Ala129fs
NP_001124450.1:p.Ala129fs
NP_001124451.1:p.Ala129fs
NP_001124452.1:p.Ala129fs
NP_001124453.1:p.Ala129fs
NP_001124454.1:p.Ala130fs
NP_001124455.1:p.Ala130fs
NP_001124456.1:p.Ala130fs
NP_001124457.1:p.Ala130fs
NP_001124458.1:p.Ala130fs
NP_001124459.1:p.Ala130fs
NP_003485.1:p.Ala129fs
LRG_845t1:c.386del
LRG_845t2:c.389del
LRG_845:g.63228del
LRG_845p1:p.Ala129fs
LRG_845p2:p.Ala130fs
NC_000002.11:g.71738980del

Protein change:

A129fs

Molecular consequence:

NM_001130455.2:c.389del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130976.2:c.386del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130977.2:c.386del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130978.2:c.386del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130979.2:c.386del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130980.2:c.386del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130981.2:c.386del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130982.2:c.389del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130983.2:c.389del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130984.2:c.389del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130985.2:c.389del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130986.2:c.389del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130987.2:c.389del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003494.4:c.386del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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BJ079143 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clon...
BJ079143 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clone XL067g23 3', mRNA sequence
gi|17524059|gnl|dbEST|10543452|dbj| 143.1|

Nucleotide
Homo sapiens potassium channel tetramerization domain containing 1 (KCTD1), tran...
Homo sapiens potassium channel tetramerization domain containing 1 (KCTD1), transcript variant 3, mRNA
gi|1653960749|ref|NM_001142730.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004502605	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 10, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17698709, 20301480, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004502605

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 10, 2023)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004502605.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala129Valfs*22) 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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