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NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003883136.1

Allele description [Variation Report for NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)]

NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)

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.3146G>A (p.Arg1049Gln)
HGVS:
  • NC_000023.11:g.53382645C>T
  • NG_006988.2:g.45026G>A
  • NM_001281463.1:c.3080G>A
  • NM_006306.4:c.3146G>AMANE SELECT
  • NP_001268392.1:p.Arg1027Gln
  • NP_006297.2:p.Arg1049Gln
  • NP_006297.2:p.Arg1049Gln
  • LRG_773t1:c.3080G>A
  • LRG_773t2:c.3146G>A
  • LRG_773:g.45026G>A
  • LRG_773p1:p.Arg1027Gln
  • LRG_773p2:p.Arg1049Gln
  • NC_000023.10:g.53409566C>T
  • NM_006306.2:c.3146G>A
  • NM_006306.3:c.3146G>A
  • Q14683:p.Arg1049Gln
Protein change:
R1027Q
Links:
UniProtKB: Q14683#VAR_062800; dbSNP: rs587784416
NCBI 1000 Genomes Browser:
rs587784416
Molecular consequence:
  • NM_001281463.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006306.4:c.3146G>A - 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
Name:
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Synonyms:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Identifiers:
MONDO: MONDO:0026771; MedGen: C5393312; OMIM: 301044

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004697622Molecular Genetics Lab, CHRU Brest
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Molecular Genetics Lab, CHRU Brest, SCV004697622.1

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

Last Updated: Sep 29, 2024