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NM_001374828.1(ARID1B):c.4795C>T (p.Gln1599Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 23, 2022
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:
RCV002957709.3

Allele description [Variation Report for NM_001374828.1(ARID1B):c.4795C>T (p.Gln1599Ter)]

NM_001374828.1(ARID1B):c.4795C>T (p.Gln1599Ter)

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.4795C>T (p.Gln1599Ter)
HGVS:
  • NC_000006.12:g.157201020C>T
  • NG_066624.1:g.429995C>T
  • NM_001346813.1:c.4546C>T
  • NM_001363725.2:c.2296C>T
  • NM_001371656.1:c.4675C>T
  • NM_001374820.1:c.4675C>T
  • NM_001374828.1:c.4795C>TMANE SELECT
  • NM_017519.3:c.4636C>T
  • NM_020732.3:c.4426C>T
  • NM_175863.2:c.4213C>T
  • NP_001333742.1:p.Gln1516Ter
  • NP_001350654.1:p.Gln766Ter
  • NP_001358585.1:p.Gln1559Ter
  • NP_001361749.1:p.Gln1559Ter
  • NP_001361757.1:p.Gln1599Ter
  • NP_059989.3:p.Gln1546Ter
  • NP_065783.3:p.Gln1476Ter
  • NP_787059.2:p.Gln1405Ter
  • NC_000006.11:g.157522154C>T
Protein change:
Q1405*
Molecular consequence:
  • NM_001346813.1:c.4546C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363725.2:c.2296C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371656.1:c.4675C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374820.1:c.4675C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374828.1:c.4795C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017519.3:c.4636C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020732.3:c.4426C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_175863.2:c.4213C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003272592Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 23, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ARID1B-mediated disorders: Mutations and possible mechanisms.

Sim JC, White SM, Lockhart PJ.

Intractable Rare Dis Res. 2015 Feb;4(1):17-23. doi: 10.5582/irdr.2014.01021. Review.

PubMed [citation]
PMID:
25674384
PMCID:
PMC4322591

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, et al.

Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Erratum in: Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.

PubMed [citation]
PMID:
30349098
PMCID:
PMC6752273
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003272592.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1476*) in the ARID1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARID1B are known to be pathogenic (PMID: 25674384, 30349098).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024