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NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 31, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001262002.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)]

NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)

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.1909C>T (p.Arg637Cys)
HGVS:
  • NC_000011.10:g.68936389C>T
  • NG_007976.1:g.37539C>T
  • NM_002180.3:c.1909C>TMANE SELECT
  • NP_002171.2:p.Arg637Cys
  • NP_002171.2:p.Arg637Cys
  • LRG_250t1:c.1909C>T
  • LRG_250:g.37539C>T
  • LRG_250p1:p.Arg637Cys
  • NC_000011.9:g.68703857C>T
  • NM_002180.2:c.1909C>T
Protein change:
R637C
Links:
dbSNP: rs201563456
NCBI 1000 Genomes Browser:
rs201563456
Molecular consequence:
  • NM_002180.3:c.1909C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive distal spinal muscular atrophy 1
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001439365HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 31, 2020) 		paternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknown1not providednot provided1not providedresearch

Citations

PubMed

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

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001439365.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes:PM2, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024