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NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV000735324.3

Allele description [Variation Report for NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)]

NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)

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.6337C>T (p.Arg2113Ter)
HGVS:
  • NC_000006.12:g.157207109C>T
  • NG_066624.1:g.436084C>T
  • NM_001346813.1:c.6088C>T
  • NM_001363725.2:c.3838C>T
  • NM_001371656.1:c.6217C>T
  • NM_001374820.1:c.6217C>T
  • NM_001374828.1:c.6337C>TMANE SELECT
  • NM_017519.3:c.6178C>T
  • NM_020732.3:c.5968C>T
  • NP_001333742.1:p.Arg2030Ter
  • NP_001350654.1:p.Arg1280Ter
  • NP_001358585.1:p.Arg2073Ter
  • NP_001361749.1:p.Arg2073Ter
  • NP_001361757.1:p.Arg2113Ter
  • NP_059989.3:p.Arg2060Ter
  • NP_065783.3:p.Arg1990Ter
  • NC_000006.11:g.157528243C>T
  • NM_001374828.1:c.6337C>T
Protein change:
R1280*
Links:
dbSNP: rs797045283
NCBI 1000 Genomes Browser:
rs797045283
Molecular consequence:
  • NM_001346813.1:c.6088C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363725.2:c.3838C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371656.1:c.6217C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374820.1:c.6217C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374828.1:c.6337C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017519.3:c.6178C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020732.3:c.5968C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Torticollis
Synonyms:
Inherited torticollis
Identifiers:
MONDO: MONDO:0008583; MedGen: C0040485; OMIM: 189600; Human Phenotype Ontology: HP:0000473
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Dysphagia
Identifiers:
MedGen: C0011168; Human Phenotype Ontology: HP:0002015
Name:
Premature birth
Identifiers:
MedGen: C0151526; Human Phenotype Ontology: HP:0001622
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Joint hypermobility
Identifiers:
MedGen: C1844820; Human Phenotype Ontology: HP:0001382
Name:
Relative macrocephaly
Identifiers:
MedGen: C1849075; Human Phenotype Ontology: HP:0004482
Name:
Capillary hemangioma
Synonyms:
Capillary hemangiomas
Identifiers:
MONDO: MONDO:0002407; MedGen: C0206733; Human Phenotype Ontology: HP:0005306
Name:
Congenital talipes calcaneovalgus
Identifiers:
MedGen: C4551629; Human Phenotype Ontology: HP:0005850

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854478Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Non-Hispanicgermlineyesnot 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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854478.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Non-Hispanicnot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Aug 13, 2023