NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 18, 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:: RCV001049055.7

Allele description [Variation Report for NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter)]

NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter)

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.3946C>T (p.Gln1316Ter)

HGVS:

NC_000006.12:g.157189668C>T
NG_066624.1:g.418643C>T
NM_001363725.2:c.1447C>T
NM_001371656.1:c.3826C>T
NM_001374820.1:c.3826C>T
NM_001374828.1:c.3946C>TMANE SELECT
NM_017519.3:c.3787C>T
NM_020732.3:c.3577C>T
NP_001350654.1:p.Gln483Ter
NP_001358585.1:p.Gln1276Ter
NP_001361749.1:p.Gln1276Ter
NP_001361757.1:p.Gln1316Ter
NP_059989.3:p.Gln1263Ter
NC_000006.11:g.157510802C>T

Protein change:

Q1263*

Links:

dbSNP: rs1554232925

NCBI 1000 Genomes Browser:

rs1554232925

Molecular consequence:

NM_001363725.2:c.1447C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001371656.1:c.3826C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001374820.1:c.3826C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001374828.1:c.3946C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_017519.3:c.3787C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001213089	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 18, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24674232, 25674384, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001213089

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 18, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

Sim JC, White SM, Fitzpatrick E, Wilson GR, Gillies G, Pope K, Mountford HS, Torring PM, McKee S, Vulto-van Silfhout AT, Jhangiani SN, Muzny DM, Leventer RJ, Delatycki MB, Amor DJ, Lockhart PJ.

Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43.

PubMed [citation]

PMID:: 24674232
PMCID:: PMC4022252

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

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001213089.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln1193*) in the ARID1B gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ARID1B are known to be pathogenic (PMID: 24674232, 25674384). This variant has not been reported in the literature in individuals with ARID1B-related conditions. This variant is not present in population databases (ExAC no frequency).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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