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NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs) AND Coffin-Siris syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 21, 2019
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:
RCV001027703.2

Allele description [Variation Report for NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)]

NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)

Gene:
ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)
HGVS:
  • NC_000006.12:g.157203883dup
  • NG_066624.1:g.432858dup
  • NM_001363725.2:c.2782dup
  • NM_001371656.1:c.5161dup
  • NM_001374820.1:c.5161dup
  • NM_001374828.1:c.5281dupMANE SELECT
  • NM_017519.3:c.5122dup
  • NM_175863.2:c.4699dup
  • NP_001350654.1:p.Arg928fs
  • NP_001358585.1:p.Arg1721fs
  • NP_001361749.1:p.Arg1721fs
  • NP_001361757.1:p.Arg1761fs
  • NP_059989.3:p.Arg1708fs
  • NC_000006.11:g.157525017dup
Protein change:
R1708fs
Links:
dbSNP: rs1794276185
NCBI 1000 Genomes Browser:
rs1794276185
Molecular consequence:
  • NM_001363725.2:c.2782dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371656.1:c.5161dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374820.1:c.5161dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374828.1:c.5281dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017519.3:c.5122dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Coffin-Siris syndrome 1 (CSS1)
Synonyms:
Mental retardation, autosomal dominant 12; Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Identifiers:
MONDO: MONDO:0007617; MedGen: C3281201; Orphanet: 1465; OMIM: 135900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190282Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 21, 2019) 		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

Facile, rapid, and large-area periodic patterning of semiconductor substrates with submicron inorganic structures.

Kempa TJ, Bediako DK, Jones EC, Lieber CM, Nocera DG.

J Am Chem Soc. 2015 Mar 25;137(11):3739-42. doi: 10.1021/ja5118717. Epub 2015 Mar 12.

PubMed [citation]
PMID:
25741869

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190282.1

#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 23, 2022