NM_001374828.1(ARID1B):c.3038dup (p.Glu1014fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 25, 2017
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:: RCV000623773.2

Allele description [Variation Report for NM_001374828.1(ARID1B):c.3038dup (p.Glu1014fs)]

NM_001374828.1(ARID1B):c.3038dup (p.Glu1014fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

6q25.3

Genomic location:

Preferred name:

NM_001374828.1(ARID1B):c.3038dup (p.Glu1014fs)

HGVS:

NC_000006.12:g.157148900dup
NG_066624.1:g.377875dup
NM_001363725.2:c.539dup
NM_001371656.1:c.3077dup
NM_001374820.1:c.3077dup
NM_001374828.1:c.3038dupMANE SELECT
NM_017519.3:c.3038dup
NP_001350654.1:p.Glu181fs
NP_001358585.1:p.Glu1027fs
NP_001361749.1:p.Glu1027fs
NP_001361757.1:p.Glu1014fs
NP_059989.3:p.Glu1014fs
NC_000006.11:g.157470034dup
NM_020732.3:c.2828dupA

Protein change:

E1014fs

Links:

dbSNP: rs1554226131

NCBI 1000 Genomes Browser:

rs1554226131

Molecular consequence:

NM_001363725.2:c.539dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371656.1:c.3077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374820.1:c.3077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374828.1:c.3038dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017519.3:c.3038dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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ADAMTS-like protein 4 isoform 2 precursor [Homo sapiens]
ADAMTS-like protein 4 isoform 2 precursor [Homo sapiens]
gi|56788359|ref|NP_079284.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742828	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Aug 25, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742828

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Aug 25, 2017)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000742828.3

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

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

Last Updated: Sep 1, 2024

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