NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) AND Miyoshi muscular dystrophy 1

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Feb 24, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000311139.13

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]

Observations:

Condition(s)

Name:: Miyoshi muscular dystrophy 1 (MMD1)
Identifiers:: MONDO: MONDO:0024545; MedGen: C4551973; Orphanet: 45448; OMIM: 254130

Recent activity

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zgc:136864 zgc:136864 [Danio rerio]
zgc:136864 zgc:136864 [Danio rerio]
Gene ID:677749

Gene
JGI_XZG15074.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7530963 5'...
JGI_XZG15074.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7530963 5', mRNA sequence
gi|73751514|gnl|dbEST|31012729|gb|C 83.2|

Nucleotide
AL780236 XGC-neurula Xenopus tropicalis cDNA clone TNeu092p06 5', mRNA sequence
AL780236 XGC-neurula Xenopus tropicalis cDNA clone TNeu092p06 5', mRNA sequence
gi|38285951|gnl|dbEST|20362271|emb| 236.2|

Nucleotide
CR432020 XGC-tailbud Xenopus tropicalis cDNA clone TTbA072p17 5', mRNA sequence
CR432020 XGC-tailbud Xenopus tropicalis cDNA clone TTbA072p17 5', mRNA sequence
gi|48925429|gnl|dbEST|23796022|emb| 020.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000864397	Genetic Diseases Diagnostic Center, Koc University Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic (Dec 18, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001981612	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002764676	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (May 6, 2021)	germline	clinical testing	Citation Link,
SCV004194187	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 24, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.

Leshinsky-Silver E, Argov Z, Rozenboim L, Cohen S, Tzofi Z, Cohen Y, Wirguin Y, Dabby R, Lev D, Sadeh M.

Neuromuscul Disord. 2007 Dec;17(11-12):950-4. Epub 2007 Sep 6.

PubMed [citation]

PMID:: 17825554

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Diseases Diagnostic Center, Koc University Hospital, SCV000864397.1

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

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

From GeneReviews, SCV001981612.2

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

Description

Founder variant in Jews of the Caucasus

#	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

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764676.1

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

From Baylor Genetics, SCV004194187.2

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

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

Last Updated: Aug 4, 2024

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