NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 12, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000596478.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)]

NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)

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.1060G>A (p.Gly354Ser)
HGVS:
  • NC_000011.10:g.68917883G>A
  • NG_007976.1:g.19033G>A
  • NM_002180.2:c.1060G>A
  • NM_002180.3:c.1060G>AMANE SELECT
  • NP_002171.2:p.Gly354Ser
  • NP_002171.2:p.Gly354Ser
  • LRG_250t1:c.1060G>A
  • LRG_250:g.19033G>A
  • LRG_250p1:p.Gly354Ser
  • NC_000011.9:g.68685351G>A
Protein change:
G354S
Links:
dbSNP: rs886043773
NCBI 1000 Genomes Browser:
rs886043773
Molecular consequence:
  • NM_002180.2:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000701225EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Oct 12, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

Giannini A, Pinto AM, Rossetti G, Prandi E, Tiziano D, Brahe C, Nardocci N.

Intensive Care Med. 2006 Nov;32(11):1851-5. Epub 2006 Sep 9. Review.

PubMed [citation]
PMID:
16964485

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.

Litvinenko I, Kirov AV, Georgieva R, Todorov T, Malinova Z, Mitev V, Todorova A.

J Child Neurol. 2014 Jun;29(6):799-802. doi: 10.1177/0883073813477203. Epub 2013 Feb 28.

PubMed [citation]
PMID:
23449687

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701225.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Nov 27, 2021

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