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NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile) AND Coffin-Siris syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 2020
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:
RCV001809076.1

Allele description [Variation Report for NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile)]

NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile)

Gene:
ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile)
HGVS:
  • NC_000006.12:g.157148936A>T
  • NG_066624.1:g.377911A>T
  • NM_001346813.1:c.2825A>T
  • NM_001363725.2:c.575A>T
  • NM_001371656.1:c.3113A>T
  • NM_001374820.1:c.3113A>T
  • NM_001374828.1:c.3074A>TMANE SELECT
  • NM_017519.3:c.3074A>T
  • NP_001350654.1:p.Asn192Ile
  • NP_001358585.1:p.Asn1038Ile
  • NP_001361749.1:p.Asn1038Ile
  • NP_001361757.1:p.Asn1025Ile
  • NP_059989.3:p.Asn1025Ile
  • NC_000006.11:g.157470070A>T
Protein change:
N1025I
Links:
dbSNP: rs2128635041
NCBI 1000 Genomes Browser:
rs2128635041
Molecular consequence:
  • NM_001363725.2:c.575A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371656.1:c.3113A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374820.1:c.3113A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374828.1:c.3074A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017519.3:c.3074A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Coffin-Siris syndrome 1 (CSS1)
Synonyms:
Mental retardation, autosomal dominant 12
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
SCV002059445Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 28, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Centogene AG - the Rare Disease Company, SCV002059445.1

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

Last Updated: Sep 1, 2024