NM_001321075.3(DLG4):c.1693+1G>A AND Intellectual developmental disorder 62

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Feb 28, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001800209.9

Allele description [Variation Report for NM_001321075.3(DLG4):c.1693+1G>A]

NM_001321075.3(DLG4):c.1693+1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_001321075.3(DLG4):c.1693+1G>A

HGVS:

NC_000017.11:g.7193482C>T
NG_008391.2:g.31569G>A
NG_008391.3:g.31568G>A
NM_001128827.4:c.1684+1G>A
NM_001321074.1:c.1813+1G>A
NM_001321075.3:c.1693+1G>AMANE SELECT
NM_001321076.3:c.1513+1G>A
NM_001321077.3:c.1513+1G>A
NM_001365.5:c.1822+1G>A
NM_001369566.3:c.1612+1G>A
NC_000017.10:g.7096801C>T
NM_001321075.3:c.1693+1G>A
NM_001365.4:c.1822+1G>A

Links:

dbSNP: rs2142825211

NCBI 1000 Genomes Browser:

rs2142825211

Molecular consequence:

NM_001128827.4:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321074.1:c.1813+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321075.3:c.1693+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321076.3:c.1513+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321077.3:c.1513+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001365.5:c.1822+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001369566.3:c.1612+1G>A - 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
SCV002044362	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 21, 2021)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 33597769, 25741868
SCV003915508	Tumer Group, Copenhagen University Hospital, Rigshospitalet	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 28, 2023)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002044362

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 21, 2021)

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

SCV003915508

Tumer Group, Copenhagen University Hospital, Rigshospitalet

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 28, 2023)

de novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, et al.

Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17.

PubMed [citation]

PMID:: 33597769

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 Human Genetics, University of Leipzig Medical Center, SCV002044362.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

From Tumer Group, Copenhagen University Hospital, Rigshospitalet, SCV003915508.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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