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NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000059681.1

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000091251UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not 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 UniProtKB/Swiss-Prot, SCV000091251.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024