NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) AND Spinal muscular atrophy, distal, autosomal recessive, 1

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000680011.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)]

NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)

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.1708C>T (p.Arg570Ter)
HGVS:
  • NC_000011.10:g.68935374C>T
  • NG_007976.1:g.36524C>T
  • NM_002180.2:c.1708C>T
  • NM_002180.3:c.1708C>TMANE SELECT
  • NP_002171.2:p.Arg570Ter
  • NP_002171.2:p.Arg570Ter
  • LRG_250t1:c.1708C>T
  • LRG_250:g.36524C>T
  • LRG_250p1:p.Arg570Ter
  • NC_000011.9:g.68702842C>T
Protein change:
R570*
Links:
dbSNP: rs1000091588
NCBI 1000 Genomes Browser:
rs1000091588
Molecular consequence:
  • NM_002180.2:c.1708C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002180.3:c.1708C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Spinal muscular atrophy, distal, autosomal recessive, 1 (DSMA1)
Synonyms:
HMN VI; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC; Spinal muscular atrophy with respiratory distress 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011436; MedGen: C1858517; Orphanet: 98920; OMIM: 604320

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000807449Baylor Geneticscriteria provided, single submitter
Pathogenic
(Sep 1, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000807449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000508680.4)
PubMed (3)

Description

This mutation has been previously reported as disease-causing and was found once in our laboratory homozygous in a 1-year-old male with congenital senseory and motor neuropathy, chronic respiratory failure, thrombocytopenia

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided
(GTR000508680.4)
not providednot providednot providednot provided

Last Updated: Nov 27, 2021

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