NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 16, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000007072.11

Allele description [Variation Report for NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)]

NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)

HGVS:

NC_000002.12:g.71568307del
NG_008694.1:g.119685del
NM_001130455.2:c.2782del
NM_001130976.2:c.2737del
NM_001130977.2:c.2737del
NM_001130978.2:c.2779del
NM_001130979.2:c.2872del
NM_001130980.2:c.2830del
NM_001130981.2:c.2830del
NM_001130982.2:c.2875del
NM_001130983.2:c.2782del
NM_001130984.2:c.2740del
NM_001130985.2:c.2833del
NM_001130986.2:c.2740del
NM_001130987.2:c.2833delMANE SELECT
NM_003494.4:c.2779del
NP_001123927.1:p.Ala928fs
NP_001124448.1:p.Ala913fs
NP_001124449.1:p.Ala913fs
NP_001124450.1:p.Ala927fs
NP_001124451.1:p.Ala958fs
NP_001124452.1:p.Ala944fs
NP_001124453.1:p.Ala944fs
NP_001124454.1:p.Ala959fs
NP_001124455.1:p.Ala928fs
NP_001124456.1:p.Ala914fs
NP_001124457.1:p.Ala945fs
NP_001124458.1:p.Ala914fs
NP_001124459.1:p.Ala945fs
NP_003485.1:p.Ala927fs
LRG_845t1:c.2779del
LRG_845t2:c.2833del
LRG_845:g.119685del
LRG_845p1:p.Ala927fs
LRG_845p2:p.Ala945fs
NC_000002.11:g.71795435del
NC_000002.11:g.71795437del
NM_003494.3:c.2779delG
NM_003494.4:c.2779delG

Note:

NCBI staff reviewed the sequence information reported in PubMed 17825554 Fig. 2 to determine the location of this allele on the current reference sequence.

Protein change:

A913fs

Links:

OMIM: 603009.0021; dbSNP: rs727503909

NCBI 1000 Genomes Browser:

rs727503909

Molecular consequence:

NM_001130455.2:c.2782del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130976.2:c.2737del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130977.2:c.2737del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130978.2:c.2779del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130979.2:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130980.2:c.2830del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130981.2:c.2830del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130982.2:c.2875del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130983.2:c.2782del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130984.2:c.2740del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130985.2:c.2833del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130986.2:c.2740del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130987.2:c.2833del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003494.4:c.2779del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMDR2)
Synonyms:: Limb-girdle muscular dystrophy, type 2B; Muscular dystrophy, limb-girdle, type 3; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
Identifiers:: MONDO: MONDO:0009676; MedGen: C1850889; Orphanet: 268; OMIM: 253601

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Major facilitator superfamily protein [Arabidopsis thaliana]
Major facilitator superfamily protein [Arabidopsis thaliana]
gi|30678455|ref|NP_850497.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027268	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001458660	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027268

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2009)

germline

literature only

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

SCV001458660

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A new phenotype of dysferlinopathy with congenital onset.

Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P.

Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11.

PubMed [citation]

PMID:: 19084402

Details of each submission

From OMIM, SCV000027268.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 Spanish sibs, aged 2 and 5 years, with unusual congenital onset of limb-girdle muscular dystrophy type 2B (LGMDR2; 253601), Paradas et al. (2009) identified a homozygous 1-bp deletion (2776delG) in exon 26 of the DYSF gene, resulting in a frameshift and premature termination. The parents were not consanguineous, but they came from the same small village, and haplotype analysis suggested an ancient consanguineous relationship. Both patients presented in infancy with hypotonia and delayed motor development. They had difficulty walking, running, and climbing stairs, as well as neck muscle weakness. The patients had almost no expression of dysferlin in muscle, whereas clinically unaffected family members who were heterozygous for the mutation had about a 50% reduction in dysferlin expression. Paradas et al. (2009) emphasized the early onset of this disorder in these sibs, and suggested that they have a novel phenotype not previously associated with DYSF mutations.

#	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		not provided	not provided	not provided	not provided

From Natera, Inc., SCV001458660.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Oct 20, 2024

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