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NM_145207.3(AFG2A):c.1822_1824del (p.Asp608del) AND Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 1, 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:
RCV001264811.1

Allele description [Variation Report for NM_145207.3(AFG2A):c.1822_1824del (p.Asp608del)]

NM_145207.3(AFG2A):c.1822_1824del (p.Asp608del)

Gene:
AFG2A:AFG2 AAA ATPase homolog A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q28.1
Genomic location:
Preferred name:
NM_145207.3(AFG2A):c.1822_1824del (p.Asp608del)
HGVS:
  • NC_000004.12:g.122979339_122979341del
  • NG_051570.1:g.61270_61272del
  • NM_001317799.2:c.1819_1821del
  • NM_001345856.2:c.1819_1821del
  • NM_145207.3:c.1822_1824delMANE SELECT
  • NP_001304728.1:p.Asp607del
  • NP_001332785.1:p.Asp607del
  • NP_660208.2:p.Asp608del
  • NC_000004.11:g.123900494_123900496del
  • NM_145207.2:c.1822_1824del
Protein change:
D607del
Links:
dbSNP: rs1725528788
NCBI 1000 Genomes Browser:
rs1725528788
Molecular consequence:
  • NM_001317799.2:c.1819_1821del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001345856.2:c.1819_1821del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_145207.3:c.1822_1824del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443004Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 1, 2020) 		biparentalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyesnot providednot providednot providednot providednot providedclinical 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 Human Genetics, University of Leipzig Medical Center, SCV001443004.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PM2,PM3_Supporting,PM5,PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023