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NM_001374828.1(ARID1B):c.3151C>T (p.Gln1051Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 27, 2014
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:
RCV000234911.1

Allele description [Variation Report for NM_001374828.1(ARID1B):c.3151C>T (p.Gln1051Ter)]

NM_001374828.1(ARID1B):c.3151C>T (p.Gln1051Ter)

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.3151C>T (p.Gln1051Ter)
HGVS:
  • NC_000006.12:g.157167101C>T
  • NG_066624.1:g.396076C>T
  • NM_001363725.2:c.652C>T
  • NM_001371656.1:c.3190C>T
  • NM_001374820.1:c.3190C>T
  • NM_001374828.1:c.3151C>TMANE SELECT
  • NM_017519.3:c.3151C>T
  • NM_020732.3:c.2941C>T
  • NP_001350654.1:p.Gln218Ter
  • NP_001358585.1:p.Gln1064Ter
  • NP_001361749.1:p.Gln1064Ter
  • NP_001361757.1:p.Gln1051Ter
  • NP_059989.3:p.Gln1051Ter
  • NP_065783.3:p.Gln981Ter
  • NC_000006.11:g.157488235C>T
Protein change:
Q1051*
Links:
dbSNP: rs879253747
NCBI 1000 Genomes Browser:
rs879253747
Molecular consequence:
  • NM_001363725.2:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371656.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374820.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374828.1:c.3151C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017519.3:c.3151C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020732.3:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Blepharophimosis
Synonyms:
Blepharophimosis (disease)
Identifiers:
MONDO: MONDO:0001008; MedGen: C0005744; Human Phenotype Ontology: HP:0000581
Name:
Absent speech
Synonyms:
Absent speech development
Identifiers:
MedGen: C1854882; Human Phenotype Ontology: HP:0001344
Name:
Thick lower lip vermilion
Identifiers:
MedGen: C1839739; Human Phenotype Ontology: HP:0000179
Name:
Thin upper lip vermilion
Identifiers:
MedGen: C1865017; Human Phenotype Ontology: HP:0000219
Name:
Long eyelashes
Identifiers:
MedGen: C1853738; Human Phenotype Ontology: HP:0000527
Name:
Intellectual disability, moderate
Synonyms:
Moderae intellectual disability
Identifiers:
MedGen: C0026351; Human Phenotype Ontology: HP:0002342

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000291997Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(Sim et al. (Orphanet J Rare Dis. 2014))		Pathogenic
(Mar 27, 2014) 		de novoclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednoclinical testing

Citations

PubMed

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013;5(6):57. doi: 10.1186/gm461.

PubMed [citation]
PMID:
23806086
PMCID:
PMC3706849

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]
PMID:
24088041
PMCID:
PMC4211433
See all PubMed Citations (3)

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000291997.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022