NM_001374828.1(ARID1B):c.2126_2127delinsGC (p.Gln709Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 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:: RCV002284907.2

Allele description [Variation Report for NM_001374828.1(ARID1B):c.2126_2127delinsGC (p.Gln709Arg)]

NM_001374828.1(ARID1B):c.2126_2127delinsGC (p.Gln709Arg)

Gene:

ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

6q25.3

Genomic location:

Preferred name:

NM_001374828.1(ARID1B):c.2126_2127delinsGC (p.Gln709Arg)

HGVS:

NC_000006.12:g.156901515_156901516delinsGC
NG_066624.1:g.130490_130491delinsGC
NM_001371656.1:c.2165_2166delinsGC
NM_001374820.1:c.2165_2166delinsGC
NM_001374828.1:c.2126_2127delinsGCMANE SELECT
NM_017519.3:c.2126_2127delinsGC
NM_020732.3:c.1916_1917delinsGC
NP_001358585.1:p.Gln722Arg
NP_001361749.1:p.Gln722Arg
NP_001361757.1:p.Gln709Arg
NP_059989.3:p.Gln709Arg
NC_000006.11:g.157222649_157222650delinsGC

Protein change:

Q709R

Molecular consequence:

NM_001371656.1:c.2165_2166delinsGC - missense variant - [Sequence Ontology: SO:0001583]
NM_001374820.1:c.2165_2166delinsGC - missense variant - [Sequence Ontology: SO:0001583]
NM_001374828.1:c.2126_2127delinsGC - missense variant - [Sequence Ontology: SO:0001583]
NM_017519.3:c.2126_2127delinsGC - missense variant - [Sequence Ontology: SO:0001583]
NM_020732.3:c.1916_1917delinsGC - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002574563	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002574563

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 16, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002574563.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 1, 2024

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Relating variation to medicine