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NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) AND Non-syndromic oligodontia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 27, 2020
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:
RCV001261884.1

Allele description [Variation Report for NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)]

NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)

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.1109T>C (p.Val370Ala)
HGVS:
  • NC_000002.12:g.108897145A>G
  • NG_008257.1:g.97228T>C
  • NM_022336.4:c.1109T>CMANE SELECT
  • NP_071731.1:p.Val370Ala
  • NC_000002.11:g.109513601A>G
  • NM_022336.3:c.1109T>C
  • Q9UNE0:p.Val370Ala
Protein change:
V370A; VAL370ALA
Links:
UniProtKB: Q9UNE0#VAR_020011; OMIM: 604095.0011; dbSNP: rs3827760
NCBI 1000 Genomes Browser:
rs3827760
Molecular consequence:
  • NM_022336.4:c.1109T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Non-syndromic oligodontia
Identifiers:
MedGen: CN233186

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001365407Department of Prosthodontics, Peking University School and Hospital of Stomatology
no assertion criteria provided
Pathogenic
(Apr 27, 2020) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Prosthodontics, Peking University School and Hospital of Stomatology, SCV001365407.1

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

Last Updated: Sep 29, 2024