U.S. flag

An official website of the United States government

NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) AND Nicolaides-Baraitser syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 26, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000022909.5

Allele description [Variation Report for NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys)]

NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys)

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.3604G>T (p.Gly1202Cys)
HGVS:
  • NC_000009.12:g.2115969G>T
  • NG_032162.2:g.140680G>T
  • NM_001289396.2:c.3604G>T
  • NM_001289397.2:c.3430G>T
  • NM_003070.5:c.3604G>TMANE SELECT
  • NM_139045.4:c.3604G>T
  • NP_001276325.1:p.Gly1202Cys
  • NP_001276325.1:p.Gly1202Cys
  • NP_001276326.1:p.Gly1144Cys
  • NP_003061.3:p.Gly1202Cys
  • NP_620614.2:p.Gly1202Cys
  • LRG_882t1:c.3604G>T
  • LRG_882:g.140680G>T
  • LRG_882p1:p.Gly1202Cys
  • NC_000009.11:g.2115969G>T
  • NM_001289396.1:c.3604G>T
  • NM_003070.3:c.3604G>T
  • P51531:p.Gly1202Cys
Protein change:
G1144C; GLY1202CYS
Links:
UniProtKB: P51531#VAR_068206; UniProtKB/Swiss-Prot: VAR_068206; OMIM: 600014.0002; dbSNP: rs281875239
NCBI 1000 Genomes Browser:
rs281875239
Molecular consequence:
  • NM_001289396.2:c.3604G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289397.2:c.3430G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003070.5:c.3604G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139045.4:c.3604G>T - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044200OMIM
no assertion criteria provided
Pathogenic
(Feb 26, 2012) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, et al.

Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105.

PubMed [citation]
PMID:
22366787

Details of each submission

From OMIM, SCV000044200.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358) who underwent whole-exome sequencing, Van Houdt et al. (2012) identified a heterozygous G-to-T transversion at nucleotide 3604 in exon 25 of the SMARCA2 gene, resulting in a gly-to-cys substitution at codon 1202 (G1202C). This mutation occurred de novo and was not found in 1,300 exomes of unaffected individuals.

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

Last Updated: Sep 1, 2024