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NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp) AND Intellectual disability, autosomal dominant 16

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV001809566.2

Allele description [Variation Report for NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp)]

NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp)

Gene:
SMARCA4:SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp)
HGVS:
  • NC_000019.10:g.11041367C>T
  • NG_011556.3:g.85436C>T
  • NM_001128844.3:c.4231C>T
  • NM_001128845.2:c.4141C>T
  • NM_001128846.2:c.4141C>T
  • NM_001128847.4:c.4132C>T
  • NM_001128848.2:c.4132C>T
  • NM_001128849.3:c.4327C>T
  • NM_001374457.1:c.4132C>T
  • NM_001387283.1:c.4327C>T
  • NM_003072.5:c.4231C>TMANE SELECT
  • NP_001122316.1:p.Arg1411Trp
  • NP_001122317.1:p.Arg1381Trp
  • NP_001122318.1:p.Arg1381Trp
  • NP_001122319.1:p.Arg1378Trp
  • NP_001122320.1:p.Arg1378Trp
  • NP_001122321.1:p.Arg1443Trp
  • NP_001361386.1:p.Arg1378Trp
  • NP_001374212.1:p.Arg1443Trp
  • NP_003063.2:p.Arg1411Trp
  • LRG_878t1:c.4231C>T
  • LRG_878:g.85436C>T
  • LRG_878p1:p.Arg1411Trp
  • NC_000019.9:g.11152043C>T
  • NG_011556.2:g.85446C>T
  • NM_001128849.1:c.4327C>T
  • NR_164683.1:n.4621C>T
Protein change:
R1378W
Links:
dbSNP: rs755455174
NCBI 1000 Genomes Browser:
rs755455174
Molecular consequence:
  • NM_001128844.3:c.4231C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128845.2:c.4141C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128846.2:c.4141C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128847.4:c.4132C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128848.2:c.4132C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128849.3:c.4327C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374457.1:c.4132C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387283.1:c.4327C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003072.5:c.4231C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164683.1:n.4621C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intellectual disability, autosomal dominant 16 (CSS4)
Synonyms:
COFFIN-SIRIS SYNDROME 4
Identifiers:
MONDO: MONDO:0013821; MedGen: C3553249; Orphanet: 1465; OMIM: 614609

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002056911Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 15, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002056911.1

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

Last Updated: Sep 29, 2024