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NM_002180.3(IGHMBP2):c.1537+88G>A AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 21, 2018
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:
RCV000677249.4

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1537+88G>A]

NM_002180.3(IGHMBP2):c.1537+88G>A

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.1537+88G>A
HGVS:
  • NC_000011.10:g.68934001G>A
  • NG_007976.1:g.35151G>A
  • NM_002180.3:c.1537+88G>AMANE SELECT
  • LRG_250t1:c.1537+88G>A
  • LRG_250:g.35151G>A
  • NC_000011.9:g.68701469G>A
  • NM_002180.2:c.1537+88G>A
Links:
dbSNP: rs1555247438
NCBI 1000 Genomes Browser:
rs1555247438
Molecular consequence:
  • NM_002180.3:c.1537+88G>A - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
cryptic splice donor activation [Variation Ontology: 0374]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692473Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 21, 2018)
unknowncase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedcase-control

Details of each submission

From Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants, SCV000692473.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedcase-controlnot provided

Description

Never published in databases. It is a deep intronic mutation probably affecting a splice donor site, which dysfunction might generate a premature codon stop. It occurs at the middle in the sequence: in the intron 10, for a total of 15 exons. It is located in the main functional domain of the protein IGHMB2 the "DNA helicase domain", at a specific location where ATP binding sites are concentrated (region 2A).

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

Last Updated: Jun 23, 2024