NM_001321075.3(DLG4):c.1295_1301+10del AND Intellectual developmental disorder 62

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 28, 2023
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:: RCV003219156.8

Allele description [Variation Report for NM_001321075.3(DLG4):c.1295_1301+10del]

NM_001321075.3(DLG4):c.1295_1301+10del

Genes:

LOC126862479:MED14-independent group 3 enhancer GRCh37_chr17:7099412-7100611 [Gene]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_001321075.3(DLG4):c.1295_1301+10del

HGVS:

NC_000017.11:g.7196212_7196228del
NG_008391.3:g.28824_28840del
NG_086977.1:g.220_236del
NM_001128827.4:c.1286_1292+10del
NM_001321074.1:c.1415_1421+10del
NM_001321075.3:c.1295_1301+10delMANE SELECT
NM_001321076.3:c.1115_1121+10del
NM_001321077.3:c.1115_1121+10del
NM_001365.5:c.1424_1430+10del
NM_001369566.3:c.1214_1220+10del
NC_000017.10:g.7099531_7099547del
NG_008391.2:g.28825_28841del

Molecular consequence:

NM_001128827.4:c.1286_1292+10del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321074.1:c.1415_1421+10del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321075.3:c.1295_1301+10del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321076.3:c.1115_1121+10del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321077.3:c.1115_1121+10del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001365.5:c.1424_1430+10del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001369566.3:c.1214_1220+10del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Intellectual developmental disorder 62
Synonyms:: MENTAL RETARDATION, AUTOSOMAL DOMINANT 62; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
Identifiers:: MONDO: MONDO:0032919; MedGen: C5394083; OMIM: 618793

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003915491	Tumer Group, Copenhagen University Hospital, Rigshospitalet	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 28, 2023)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003915491

Tumer Group, Copenhagen University Hospital, Rigshospitalet

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 28, 2023)

unknown

research

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

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 Tumer Group, Copenhagen University Hospital, Rigshospitalet, SCV003915491.1

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

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

Last Updated: Oct 21, 2023

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Relating variation to medicine