NM_000256.3(MYBPC3):c.1814_1816delACG (p.Asp605del) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 14, 2013)

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:
RCV000035441.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1814_1816delACG (p.Asp605del)]

NM_000256.3(MYBPC3):c.1814_1816delACG (p.Asp605del)

Gene:
MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.1814_1816delACG (p.Asp605del)
HGVS:
  • NC_000011.10:g.47341219_47341221delCGT
  • NG_007667.1:g.16482_16484delACG
  • NM_000256.3:c.1814_1816delACG
  • NP_000247.2:p.Asp605del
  • LRG_386t1:c.1814_1816delACG
  • LRG_386:g.16482_16484delACG
  • LRG_386p1:p.Asp605del
  • NC_000011.9:g.47362770_47362772delCGT
  • c.1814_1816delACG
Protein change:
D605del
Links:
dbSNP: 397515930
NCBI 1000 Genomes Browser:
rs397515930
Molecular consequence:
  • NM_000256.3:c.1814_1816delACG - inframe_variant - [Sequence Ontology: SO:0001650]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000059089Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineno assertion criteria providedUncertain significance
(Nov 14, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided71not providednot providednot providedclinical testing

Citations

PubMed

Shared genetic causes of cardiac hypertrophy in children and adults.

Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE.

N Engl J Med. 2008 May 1;358(18):1899-908. doi: 10.1056/NEJMoa075463. Epub 2008 Apr 9.

PubMed [citation]
PMID:
18403758
PMCID:
PMC2752150

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000059089.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testing PubMed (1)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided7not provided1not provided

Last Updated: Apr 9, 2018