NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) AND Distal spinal muscular atrophy

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000790283.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)]

NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)

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.1693G>A (p.Asp565Asn)
HGVS:
  • NC_000011.10:g.68935359G>A
  • NG_007976.1:g.36509G>A
  • NM_002180.3:c.1693G>AMANE SELECT
  • NP_002171.2:p.Asp565Asn
  • NP_002171.2:p.Asp565Asn
  • LRG_250t1:c.1693G>A
  • LRG_250:g.36509G>A
  • LRG_250p1:p.Asp565Asn
  • NC_000011.9:g.68702827G>A
  • NM_002180.2:c.1693G>A
Protein change:
D565N
Links:
dbSNP: rs770111639
NCBI 1000 Genomes Browser:
rs770111639
Molecular consequence:
  • NM_002180.3:c.1693G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Distal spinal muscular atrophy
Identifiers:
MONDO: MONDO:0018894; MedGen: C0393541

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929687Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochm├╝ller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topalo─člu H, Steglich C, Guenther UP, et al.

Ann Neurol. 2003 Dec;54(6):719-24.

PubMed [citation]
PMID:
14681881

Details of each submission

From Inherited Neuropathy Consortium, SCV000929687.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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