NM_001374828.1(ARID1B):c.501CCA[4] (p.His172del) AND ARID1B-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 19, 2021
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:: RCV004535784.2

Allele description [Variation Report for NM_001374828.1(ARID1B):c.501CCA[4] (p.His172del)]

NM_001374828.1(ARID1B):c.501CCA[4] (p.His172del)

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.501CCA[4] (p.His172del)

HGVS:

NC_000006.12:g.156778181CCA[4]
NG_066624.1:g.7156CCA[4]
NG_176970.1:g.200CCA[4]
NM_001371656.1:c.501CCA[4]
NM_001374820.1:c.501CCA[4]
NM_001374828.1:c.501CCA[4]MANE SELECT
NM_017519.3:c.501CCA[4]
NM_020732.3:c.250_252delCAC
NP_001358585.1:p.His172del
NP_001361749.1:p.His172del
NP_001361757.1:p.His172del
NP_059989.3:p.His172del
NC_000006.11:g.157099313_157099315del
NC_000006.11:g.157099315CCA[4]
NM_020732.3:c.264_266delCCA

Protein change:

H172del

Links:

dbSNP: rs752012879

NCBI 1000 Genomes Browser:

rs752012879

Molecular consequence:

NM_001371656.1:c.501CCA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374820.1:c.501CCA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374828.1:c.501CCA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_017519.3:c.501CCA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV004733483	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Aug 19, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004733483

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Aug 19, 2021)

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, SCV004733483.2

#	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 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 24, 2024

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