NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro) AND Distal spinal muscular atrophy

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:: RCV000789655.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro)]

NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro)

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.1415T>C (p.Leu472Pro)

HGVS:

NC_000011.10:g.68933478T>C
NG_007976.1:g.34628T>C
NM_002180.3:c.1415T>CMANE SELECT
NP_002171.2:p.Leu472Pro
NP_002171.2:p.Leu472Pro
LRG_250t1:c.1415T>C
LRG_250:g.34628T>C
LRG_250p1:p.Leu472Pro
NC_000011.9:g.68700946T>C
NM_002180.2:c.1415T>C

Protein change:

L472P

Links:

dbSNP: rs1594451536

NCBI 1000 Genomes Browser:

rs1594451536

Molecular consequence:

NM_002180.3:c.1415T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Distal spinal muscular atrophy
Synonyms:: Distal hereditary motor neuropathy; Neuronopathy, distal hereditary motor
Identifiers:: MONDO: MONDO:0018894; MedGen: C0393541

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000929027	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

SCV000929027

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 profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.

Hum Mutat. 2007 Aug;28(8):808-15.

PubMed [citation]

PMID:: 17431882

Details of each submission

From Inherited Neuropathy Consortium, SCV000929027.1

#	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: Jun 17, 2024

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