NM_001374828.1(ARID1B):c.612_632del (p.Gln208_Gln214del) AND ARID1B-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 21, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004541550.2

Allele description [Variation Report for NM_001374828.1(ARID1B):c.612_632del (p.Gln208_Gln214del)]

NM_001374828.1(ARID1B):c.612_632del (p.Gln208_Gln214del)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

6q25.3

Genomic location:

Preferred name:

NM_001374828.1(ARID1B):c.612_632del (p.Gln208_Gln214del)

HGVS:

NC_000006.12:g.156778292_156778312del
NG_066624.1:g.7267_7287del
NM_001371656.1:c.612_632del
NM_001374820.1:c.612_632del
NM_001374828.1:c.612_632delMANE SELECT
NM_017519.3:c.612_632del
NM_020732.3:c.363_383del
NP_001358585.1:p.Gln208_Gln214del
NP_001361749.1:p.Gln208_Gln214del
NP_001361757.1:p.Gln208_Gln214del
NP_059989.3:p.Gln208_Gln214del
NP_065783.3:p.Gln125_Gln131del
NC_000006.11:g.157099406_157099426del
NC_000006.11:g.157099426_157099446del
NM_020732.3:c.363_383del21
NR_163974.1:n.227_247del

Links:

dbSNP: rs762617219

NCBI 1000 Genomes Browser:

rs762617219

Molecular consequence:

NM_001371656.1:c.612_632del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374820.1:c.612_632del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374828.1:c.612_632del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_017519.3:c.612_632del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_020732.3:c.363_383del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_163974.1:n.227_247del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: ARID1B-related disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004795536	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Dec 21, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004795536

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Dec 21, 2023)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004795536.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Nov 10, 2024

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