NM_001130978.1(DYSF):c.200_201delTGinsAT (p.Val67Asp) AND Miyoshi myopathy

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 26, 2000
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:: RCV000170323.4

Allele description

NM_001130978.1(DYSF):c.200_201delTGinsAT (p.Val67Asp)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130978.1(DYSF):c.200_201delTGinsAT (p.Val67Asp)

HGVS:

NC_000002.12:g.71481934_71481935delTGinsAT
NG_008694.1:g.33312_33313delTGinsAT
NM_001130978.1:c.200_201delTGinsAT
NM_001130987.1:c.203_204delTGinsAT
NM_003494.3:c.200_201delTGinsAT
NP_001124450.1:p.Val67Asp
NP_001124459.1:p.Val68Asp
NP_003485.1:p.Val67Asp
NC_000002.11:g.71709064_71709065delTGinsAT

Protein change:

V67D; VAL67ASP

Links:

OMIM: 603009.0009; dbSNP: rs121908957

NCBI 1000 Genomes Browser:

rs121908957

Molecular consequence:

NM_003494.3:c.200_201delTGinsAT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Miyoshi myopathy
Synonyms:: Miyoshi muscular dystrophy
Identifiers:: MedGen: CN230453; OMIM: PS254130

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222734	OMIM	no assertion criteria provided	Pathogenic (Dec 26, 2000)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9009996, 11134403

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222734

OMIM

no assertion criteria provided

Pathogenic
(Dec 26, 2000)

germline

literature only

PubMed (2)
[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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S.

Brain. 1996 Dec;119 ( Pt 6):1895-909.

PubMed [citation]

PMID:: 9009996

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K.

Neurology. 2000 Dec 26;55(12):1931-3.

PubMed [citation]

PMID:: 11134403

Details of each submission

From OMIM, SCV000222734.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a large consanguineous Russian family with both limb-girdle muscular dystrophy type 2B (LGMD2B; 253601) and Miyoshi myopathy (MMD1; 254130) reported by Illarioshkin et al. (1996), Illarioshkin et al. (2000) found that all affected individuals were homozygous for a TG-to-AT change at nucleotides 573-574 of the DYSF gene, resulting in a val67-to-asp (V67D) substitution.

#	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

Last Updated: Jul 21, 2018

ClinVar

Relating variation to medicine