NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln207_Gln214dup) AND History of neurodevelopmental disorder

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Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 16, 2016
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:: RCV000718960.2

Allele description

NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln207_Gln214dup)

Genes:

ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]
LOC115308161:uncharacterized LOC115308161 [Gene]

Variant type:

Microsatellite

Cytogenetic location:

6q25.3

Genomic location:

Preferred name:

NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln207_Gln214dup)

HGVS:

NC_000006.12:g.156778274GCAGCAGCAGCAGCAGCAACAGCA[3]
NG_066624.1:g.7249GCAGCAGCAGCAGCAGCAACAGCA[3]
NM_001371656.1:c.594GCAGCAGCAGCAGCAGCAACAGCA[3]
NM_001374820.1:c.594GCAGCAGCAGCAGCAGCAACAGCA[3]
NM_001374828.1:c.594GCAGCAGCAGCAGCAGCAACAGCA[3]MANE SELECT
NM_017519.3:c.594GCAGCAGCAGCAGCAGCAACAGCA[3]
NP_001358585.1:p.Gln207_Gln214dup
NP_001361749.1:p.Gln207_Gln214dup
NP_001361757.1:p.Gln207_Gln214dup
NP_059989.3:p.Gln207_Gln214dup
NC_000006.11:g.157099402_157099403insCAGCAGCAGCAGCAGCAGCAGCAA
NC_000006.11:g.157099408GCAGCAGCAGCAGCAGCAACAGCA[3]
NM_020732.3:c.369_392dup
NR_163974.1:n.203TTGCTGCTGCTGCTGCTGCTGCTG[3]

Links:

dbSNP: rs770869529

NCBI 1000 Genomes Browser:

rs770869529

Molecular consequence:

NM_001371656.1:c.594GCAGCAGCAGCAGCAGCAACAGCA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001374820.1:c.594GCAGCAGCAGCAGCAGCAACAGCA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001374828.1:c.594GCAGCAGCAGCAGCAGCAACAGCA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_017519.3:c.594GCAGCAGCAGCAGCAGCAACAGCA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_163974.1:n.203TTGCTGCTGCTGCTGCTGCTGCTG[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: History of neurodevelopmental disorder
Identifiers:: MedGen: C2711754

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000849824	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Likely benign (Sep 16, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000849824

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Likely benign
(Sep 16, 2016)

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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000849824.3

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

Description

Other strong data supporting benign classification

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

Last Updated: Aug 23, 2022

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