U.S. flag

An official website of the United States government

NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) AND Distal spinal muscular atrophy

Germline classification:
Likely pathogenic (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:
RCV001027462.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)]

NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)

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.2365C>A (p.Pro789Thr)
HGVS:
  • NC_000011.10:g.68936845C>A
  • NG_007976.1:g.37995C>A
  • NM_002180.3:c.2365C>AMANE SELECT
  • NP_002171.2:p.Pro789Thr
  • LRG_250t1:c.2365C>A
  • LRG_250:g.37995C>A
  • NC_000011.9:g.68704313C>A
  • NM_002180.2:c.2365C>A
Protein change:
P789T
Links:
dbSNP: rs761789207
NCBI 1000 Genomes Browser:
rs761789207
Molecular consequence:
  • NM_002180.3:c.2365C>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190030Inherited Neuropathy Consortium
no assertion criteria provided
Likely pathogenicinheritedprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Inherited Neuropathy Consortium, SCV001190030.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024