NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 7, 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:: RCV000596725.4

Allele description [Variation Report for NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs)]

NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs)

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.4147_4149delinsAG (p.Tyr1383fs)

HGVS:

NC_000006.12:g.157190126_157190128delinsAG
NG_066624.1:g.419101_419103delinsAG
NM_001363725.2:c.1648_1650delinsAG
NM_001371656.1:c.4027_4029delinsAG
NM_001374820.1:c.4027_4029delinsAG
NM_001374828.1:c.4147_4149delinsAGMANE SELECT
NM_017519.3:c.3988_3990delinsAG
NM_020732.3:c.3778_3780delTACinsAG
NP_001350654.1:p.Tyr550fs
NP_001358585.1:p.Tyr1343fs
NP_001361749.1:p.Tyr1343fs
NP_001361757.1:p.Tyr1383fs
NP_059989.3:p.Tyr1330fs
NC_000006.11:g.157511260_157511262delinsAG

Protein change:

Y1330fs

Links:

dbSNP: rs1554233122

NCBI 1000 Genomes Browser:

rs1554233122

Molecular consequence:

NM_001363725.2:c.1648_1650delinsAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371656.1:c.4027_4029delinsAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374820.1:c.4027_4029delinsAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374828.1:c.4147_4149delinsAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017519.3:c.3988_3990delinsAG - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000704042	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Dec 7, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000704042

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Dec 7, 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	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000704042.2

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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