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NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del) AND Congenital muscular hypertrophy-cerebral syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 8, 2021
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:
RCV001843849.1

Allele description [Variation Report for NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del)]

NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del)

Gene:
SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del)
HGVS:
  • NC_000023.11:g.53405271TCT[1]
  • NG_006988.2:g.22397AAG[1]
  • NM_001281463.1:c.1963AAG[1]
  • NM_006306.4:c.2029AAG[1]MANE SELECT
  • NP_001268392.1:p.Lys656del
  • NP_006297.2:p.Lys678del
  • LRG_773t1:c.1963AAG[1]
  • LRG_773:g.22397AAG[1]
  • LRG_773p1:p.Lys656del
  • NC_000023.10:g.53432203TCT[1]
  • NM_006306.4:c.2032_2034delMANE SELECT
Protein change:
K656del
Links:
dbSNP: rs2146599562
NCBI 1000 Genomes Browser:
rs2146599562
Molecular consequence:
  • NM_001281463.1:c.1963AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_006306.4:c.2029AAG[1] - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002103026Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 8, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn, SCV002103026.1

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

Description

PS2, PM2, PM4 _supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023