NM_000256.3(MYBPC3):c.3330+2T>G AND Familial hypertrophic cardiomyopathy 4

Clinical significance:Pathogenic (Last evaluated: Nov 15, 2007)

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:
RCV000009152.6

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3330+2T>G]

NM_000256.3(MYBPC3):c.3330+2T>G

Gene:
MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3330+2T>G
Other names:
IVS30+2T>G
HGVS:
  • NC_000011.10:g.47333192A>C
  • NG_007667.1:g.24511T>G
  • NM_000256.3:c.3330+2T>G
  • LRG_386t1:c.3330+2T>G
  • LRG_386:g.24511T>G
  • NC_000011.9:g.47354743A>C
  • NM_000256.3(MYBPC3):c.3330+2T>G
  • c.3330+2T>G
Nucleotide change:
IVS30DS, T-G, +2
Links:
OMIM: 600958.0020; dbSNP: 387906397
NCBI 1000 Genomes Browser:
rs387906397
Molecular consequence:
  • NM_000256.3:c.3330+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 4 (CMH4)
Identifiers:
MedGen: C1861862; OMIM: 115197

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029369OMIMno assertion criteria providedPathogenic
(Nov 15, 2007)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.

Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H.

Am J Med Genet A. 2007 Nov 15;143A(22):2662-7.

PubMed [citation]
PMID:
17937428

Details of each submission

From OMIM, SCV000029369.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 23 Old Order Amish infants with severe neonatal hypertrophic cardiomyopathy (CMH4; 115197), 20 of whom were from the Geauga County settlement in Ohio, Xin et al. (2007) identified homozygosity for a 3330+2T-G transition in the splice donor site of intron 30 of the MYBPC3 gene, resulting in skipping of the 140-bp exon 30 and causing a frameshift and premature termination in exon 31. The mutation was found in heterozygosity in parents. Heterozygous carrier frequency of this mutation was calculated at 10% in the Geauga County settlement of Ohio. DNA analysis of a Mennonite couple with a child who had died from CMH revealed heterozygosity for the same 3330+2T-G mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 30, 2017