NM_145207.3(AFG2A):c.164-1053_446+1328dup AND Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 18, 2018
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:: RCV000708574.3

Allele description [Variation Report for NM_145207.3(AFG2A):c.164-1053_446+1328dup]

NM_145207.3(AFG2A):c.164-1053_446+1328dup

Gene:

AFG2A:AFG2 AAA ATPase homolog A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4q28.1

Genomic location:

Preferred name:

NM_145207.3(AFG2A):c.164-1053_446+1328dup

HGVS:

NC_000004.12:g.122926581_122930525dup
NG_051570.1:g.8512_12456dup
NM_001317799.2:c.164-1056_443+1328dup
NM_001345856.2:c.164-1056_443+1328dup
NM_145207.3:c.164-1053_446+1328dupMANE SELECT
NC_000004.11:g.123847736_123851680dup

Molecular consequence:

NM_001317799.2:c.164-1056_443+1328dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001345856.2:c.164-1056_443+1328dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_145207.3:c.164-1053_446+1328dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001317799.2:c.164-1056_443+1328dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001345856.2:c.164-1056_443+1328dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_145207.3:c.164-1053_446+1328dup - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (NEDHSB)
Synonyms:: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES
Identifiers:: MONDO: MONDO:0014698; MedGen: C4225276; Orphanet: 457351; OMIM: 616577

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000837696	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 18, 2018)	paternal	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

SCV000837696

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 18, 2018)

paternal

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
White	paternal	yes	1	1	not provided	not provided	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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000837696.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White	1	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	paternal	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Apr 13, 2025

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