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NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg) AND Congenital muscular hypertrophy-cerebral syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 10, 2023
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:
RCV003396913.1

Allele description [Variation Report for NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)]

NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)

Gene:
SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)
HGVS:
  • NC_000023.11:g.53405575T>C
  • NG_006988.2:g.22096A>G
  • NM_001281463.1:c.1763A>G
  • NM_006306.4:c.1829A>GMANE SELECT
  • NP_001268392.1:p.Gln588Arg
  • NP_006297.2:p.Gln610Arg
  • NP_006297.2:p.Gln610Arg
  • LRG_773t1:c.1763A>G
  • LRG_773t2:c.1829A>G
  • LRG_773:g.22096A>G
  • LRG_773p1:p.Gln588Arg
  • LRG_773p2:p.Gln610Arg
  • NC_000023.10:g.53432507T>C
  • NM_006306.3:c.1829A>G
Protein change:
Q588R
Molecular consequence:
  • NM_001281463.1:c.1763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006306.4:c.1829A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004102747Daryl Scott Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 10, 2023) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot 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 Daryl Scott Lab, Baylor College of Medicine, SCV004102747.1

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

Last Updated: Mar 16, 2024