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NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu) AND Congenital muscular hypertrophy-cerebral syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 10, 2020
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:
RCV001270902.4

Allele description [Variation Report for NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)]

NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)

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.756C>G (p.Asp252Glu)
HGVS:
  • NC_000023.11:g.53412998G>C
  • NG_006988.2:g.14673C>G
  • NM_001281463.1:c.690C>G
  • NM_006306.4:c.756C>GMANE SELECT
  • NP_001268392.1:p.Asp230Glu
  • NP_006297.2:p.Asp252Glu
  • LRG_773t1:c.690C>G
  • LRG_773t2:c.756C>G
  • LRG_773:g.14673C>G
  • LRG_773p1:p.Asp230Glu
  • NC_000023.10:g.53439948G>C
  • NM_006306.3:c.756C>G
Protein change:
D230E
Links:
dbSNP: rs370671274
NCBI 1000 Genomes Browser:
rs370671274
Molecular consequence:
  • NM_001281463.1:c.690C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006306.4:c.756C>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
SCV001451683Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Jun 10, 2020) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

Mannini L, Liu J, Krantz ID, Musio A.

Hum Mutat. 2010 Jan;31(1):5-10. doi: 10.1002/humu.21129. Review.

PubMed [citation]
PMID:
19842212
PMCID:
PMC2797832

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001451683.1

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

Description

The SMC1A c.756C>G (p.Asp252Glu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000013 in the European (Non-Finnish) population of the Genome Aggregation Database, but this is based on one allele found in a heterozygous state in a female individual, so the variant is presumed to be rare. Missense variants in this gene are a common mechanism of disease and this variant is found in the coiled-coil domain (Mannini et al. 2010). Based on the limited evidence, the p.Asp252Glu variant is classified as a variant of uncertain significance for Cornelia de Lange syndrome.

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

Last Updated: Apr 9, 2023