NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 23, 2020
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:: RCV001268465.1

Allele description

NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter)

Gene:

DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter)

HGVS:

NC_000017.11:g.7194363dup
NG_008391.2:g.30688dup
NG_008391.3:g.30687dup
NM_001128827.4:c.1425dup
NM_001321074.1:c.1554dup
NM_001321075.3:c.1434dupMANE SELECT
NM_001321076.3:c.1254dup
NM_001321077.3:c.1254dup
NM_001365.5:c.1563dup
NM_001369566.3:c.1353dup
NP_001122299.1:p.Asp476Ter
NP_001308003.1:p.Asp519Ter
NP_001308004.1:p.Asp479Ter
NP_001308005.1:p.Asp419Ter
NP_001308006.1:p.Asp419Ter
NP_001356.1:p.Asp522Ter
NP_001356.1:p.Asp522Terfs
NP_001356495.1:p.Asp452Ter
NC_000017.10:g.7097682dup
NM_001321075.3:c.1434dup
NM_001365.4:c.1563dup
NR_135527.1:n.2764dup

Protein change:

D419*

Links:

dbSNP: rs2069660959

NCBI 1000 Genomes Browser:

rs2069660959

Molecular consequence:

NM_001365.5:c.1563dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_135527.1:n.2764dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001128827.4:c.1425dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001321074.1:c.1554dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001321075.3:c.1434dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001321076.3:c.1254dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001321077.3:c.1254dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001365.5:c.1563dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001369566.3:c.1353dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001447418	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001447418

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 23, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447418.1

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

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

Last Updated: May 20, 2023

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