NM_002180.3(IGHMBP2):c.1519C>T (p.Gln507Ter) AND Neuronopathy, distal hereditary motor, autosomal dominant

Germline classification:: Uncertain significance (1 submission)
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:: RCV000789352.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1519C>T (p.Gln507Ter)]

NM_002180.3(IGHMBP2):c.1519C>T (p.Gln507Ter)

Gene:

IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

Preferred name:

NM_002180.3(IGHMBP2):c.1519C>T (p.Gln507Ter)

HGVS:

NC_000011.10:g.68933895C>T
NG_007976.1:g.35045C>T
NM_002180.3:c.1519C>TMANE SELECT
NP_002171.2:p.Gln507Ter
NP_002171.2:p.Gln507Ter
LRG_250t1:c.1519C>T
LRG_250:g.35045C>T
LRG_250p1:p.Gln507Ter
NC_000011.9:g.68701363C>T
NM_002180.2:c.1519C>T

Protein change:

Q507*

Links:

dbSNP: rs1285517746

NCBI 1000 Genomes Browser:

rs1285517746

Molecular consequence:

NM_002180.3:c.1519C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Neuronopathy, distal hereditary motor, autosomal dominant
Synonyms:: Autosomal dominant distal hereditary motor neuropathy
Identifiers:: MONDO: MONDO:0015362; MedGen: C5548212; Orphanet: 140465; OMIM: PS182960

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000928706	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	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

SCV000928706

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

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

Citations

PubMed

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH.

Neuromuscul Disord. 2013 Jun;23(6):461-8. doi: 10.1016/j.nmd.2013.03.002. Epub 2013 Apr 6.

PubMed [citation]

PMID:: 23566544

Details of each submission

From Inherited Neuropathy Consortium, SCV000928706.1

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

Last Updated: Jan 26, 2024

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