NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del) AND Congenital muscular hypertrophy-cerebral syndrome

Clinical significance:Likely pathogenic (Last evaluated: Feb 8, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000193116.1

Allele description [Variation Report for NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)]

NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)

Gene:
SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)
HGVS:
  • NC_000023.11:g.53405255_53405257del
  • NG_006988.2:g.22414_22416del
  • NM_001281463.1:c.1980_1982del
  • NM_006306.4:c.2046_2048delMANE SELECT
  • NP_001268392.1:p.Glu662del
  • NP_006297.2:p.Glu684del
  • LRG_773t1:c.1980_1982del
  • LRG_773:g.22414_22416del
  • LRG_773p1:p.Glu662del
  • NC_000023.10:g.53432187_53432189del
  • NM_006306.2:c.2046_2048del
Protein change:
E662del
Links:
dbSNP: rs797045992
NCBI 1000 Genomes Browser:
rs797045992
Molecular consequence:
  • NM_001281463.1:c.1980_1982del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_006306.4:c.2046_2048del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Congenital muscular hypertrophy-cerebral syndrome (CDLS2)
Synonyms:
Cornelia de Lange syndrome 2
Identifiers:
MONDO: MONDO:0010370; MedGen: C1802395; Orphanet: 199; OMIM: 300590

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000248983Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely pathogenic
(Feb 8, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000248983.1

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

Last Updated: Oct 25, 2021

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