NM_139343.3(BIN1):c.451G>A (p.Asp151Asn) AND Myopathy, centronuclear, 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2007
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:: RCV000008796.3

Allele description [Variation Report for NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)]

NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)

Gene:

BIN1:bridging integrator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.3

Genomic location:

Preferred name:

NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)

HGVS:

NC_000002.12:g.127068992C>T
NG_012042.1:g.43297G>A
NM_001320632.2:c.451G>A
NM_001320633.2:c.451G>A
NM_001320634.1:c.379G>A
NM_001320640.2:c.451G>A
NM_001320641.2:c.451G>A
NM_001320642.1:c.370G>A
NM_004305.4:c.451G>A
NM_139343.3:c.451G>AMANE SELECT
NM_139344.3:c.451G>A
NM_139345.3:c.451G>A
NM_139346.3:c.451G>A
NM_139347.3:c.451G>A
NM_139348.3:c.451G>A
NM_139349.3:c.451G>A
NM_139350.3:c.451G>A
NM_139351.3:c.451G>A
NP_001307561.1:p.Asp151Asn
NP_001307562.1:p.Asp151Asn
NP_001307563.1:p.Asp127Asn
NP_001307569.1:p.Asp151Asn
NP_001307570.1:p.Asp151Asn
NP_001307571.1:p.Asp124Asn
NP_004296.1:p.Asp151Asn
NP_647593.1:p.Asp151Asn
NP_647594.1:p.Asp151Asn
NP_647595.1:p.Asp151Asn
NP_647596.1:p.Asp151Asn
NP_647597.1:p.Asp151Asn
NP_647598.1:p.Asp151Asn
NP_647599.1:p.Asp151Asn
NP_647600.1:p.Asp151Asn
NP_647601.1:p.Asp151Asn
LRG_873t1:c.451G>A
LRG_873:g.43297G>A
LRG_873p1:p.Asp151Asn
NC_000002.11:g.127826568C>T
O00499:p.Asp151Asn

Protein change:

D124N; ASP151ASN

Links:

UniProtKB: O00499#VAR_037426; OMIM: 601248.0002; dbSNP: rs121909274

NCBI 1000 Genomes Browser:

rs121909274

Molecular consequence:

NM_001320632.2:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320633.2:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320634.1:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320640.2:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320641.2:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320642.1:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004305.4:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139343.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139344.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139345.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139346.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139347.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139348.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139349.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139350.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139351.3:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Myopathy, centronuclear, 2 (CNM2)
Synonyms:: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0009709; MedGen: C0410204; Orphanet: 169186; OMIM: 255200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029006	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029006

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2007)

germline

literature only

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

Citations

PubMed

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J.

Nat Genet. 2007 Sep;39(9):1134-9. Epub 2007 Aug 5.

PubMed [citation]

PMID:: 17676042

Details of each submission

From OMIM, SCV000029006.2

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

Description

In a 35-year-old Iraqi man with autosomal recessive centronuclear myopathy (CNM2; 255200), born of consanguineous parents, Nicot et al. (2007) identified a homozygous 451G-A transition in the BIN1 gene resulting in an asp151-to-asn (D151N) substitution. He had onset at age 8 years of a proximal muscle weakness and had central nuclei on skeletal muscle biopsy. Cellular functional expression studies showed that the D151N substitution abolished muscle fiber membrane tubulation.

#	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: Apr 23, 2022

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