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NM_022336.4(EDAR):c.266G>A (p.Arg89His) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 9, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000681480.2

Allele description [Variation Report for NM_022336.4(EDAR):c.266G>A (p.Arg89His)]

NM_022336.4(EDAR):c.266G>A (p.Arg89His)

Genes:
RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_022336.4(EDAR):c.266G>A (p.Arg89His)
HGVS:
  • NC_000002.12:g.108929288C>T
  • NG_008257.1:g.65085G>A
  • NM_022336.4:c.266G>AMANE SELECT
  • NP_071731.1:p.Arg89His
  • NC_000002.11:g.109545744C>T
  • NM_022336.2:c.266G>A
  • NM_022336.3:c.266G>A
  • Q9UNE0:p.Arg89His
Protein change:
R89H; ARG89HIS
Links:
UniProtKB: Q9UNE0#VAR_013449; OMIM: 604095.0002; dbSNP: rs121908450
NCBI 1000 Genomes Browser:
rs121908450
Molecular consequence:
  • NM_022336.4:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive sclerosing poliodystrophy (MTDPS4A)
Synonyms:
Alpers disease; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers progressive infantile poliodystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008758; MedGen: C0205710; Orphanet: 726; OMIM: 203700
Name:
Mitochondrial DNA depletion syndrome 4b
Synonyms:
MNGIE, POLG-RELATED; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related; Mitochondrial DNA depletion syndrome 4B, MNGIE type
Identifiers:
MONDO: MONDO:0013350; MedGen: C3150914; Orphanet: 298; OMIM: 613662

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000808930Hehr Laboratory, Center for Human Genetics Regensburg
no assertion criteria provided
Pathogenic
(Oct 9, 2016) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Hehr Laboratory, Center for Human Genetics Regensburg, SCV000808930.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024