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NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg) AND Nicolaides-Baraitser syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 3, 2014
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:
RCV000200789.1

Allele description [Variation Report for NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg)]

NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg)

Gene:
SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.3
Genomic location:
Preferred name:
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg)
HGVS:
  • NC_000009.12:g.2115847A>G
  • NG_032162.2:g.140558A>G
  • NM_001289396.2:c.3482A>G
  • NM_001289397.2:c.3308A>G
  • NM_003070.5:c.3482A>GMANE SELECT
  • NM_139045.4:c.3482A>G
  • NP_001276325.1:p.His1161Arg
  • NP_001276325.1:p.His1161Arg
  • NP_001276326.1:p.His1103Arg
  • NP_003061.3:p.His1161Arg
  • NP_620614.2:p.His1161Arg
  • LRG_882t1:c.3482A>G
  • LRG_882:g.140558A>G
  • LRG_882p1:p.His1161Arg
  • NC_000009.11:g.2115847A>G
  • NM_001289396.1:c.3482A>G
  • NM_003070.3:c.3482A>G
Protein change:
H1103R
Links:
dbSNP: rs863224921
NCBI 1000 Genomes Browser:
rs863224921
Molecular consequence:
  • NM_001289396.2:c.3482A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289397.2:c.3308A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003070.5:c.3482A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139045.4:c.3482A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nicolaides-Baraitser syndrome (NCBRS)
Synonyms:
Intellectual disability-sparse hair-brachydactyly syndrome
Identifiers:
MONDO: MONDO:0011053; MedGen: C1303073; Orphanet: 3051; OMIM: 601358

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255470UCLA Clinical Genomics Center, UCLA - CES
criteria provided, single submitter

(Lee et al. (JAMA. 2014))		Likely pathogenic
(Jun 3, 2014) 		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

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255470.2

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

Last Updated: Apr 20, 2024