NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) AND Trichohepatoneurodevelopmental syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 2, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000735842.1

Allele description [Variation Report for NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)]

NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)

Gene:
CCDC47:coiled-coil domain containing 47 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)
HGVS:
  • NC_000017.11:g.63752334G>A
  • NM_020198.3:c.1189C>TMANE SELECT
  • NP_064583.2:p.Arg397Ter
  • NC_000017.10:g.61829694G>A
  • NM_020198.2:c.1189C>T
  • p.Arg397*
Protein change:
R397*; ARG397TER
Links:
OMIM: 618260.0004; dbSNP: rs1269750663
NCBI 1000 Genomes Browser:
rs1269750663
Molecular consequence:
  • NM_020198.3:c.1189C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Trichohepatoneurodevelopmental syndrome (THNS)
Identifiers:
MONDO: MONDO:0032645; MedGen: C4748898; OMIM: 618268

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000863994OMIMno assertion criteria providedPathogenic
(Jan 2, 2019)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, et al.

Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.

PubMed [citation]
PMID:
30401460
PMCID:
PMC6218603

Details of each submission

From OMIM, SCV000863994.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.1189C-T transition (c.1189C-T, NM_020198.2) in exon 11 of the CCDC47 gene, resulting in an arg397-to-ter (R397X) substitution, that was found in compound heterozygous state in a 5-year-old girl with trichohepatoneurodevelopmental syndrome (THNS; 618268) by Morimoto et al. (2018), see 618260.0003.

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

Last Updated: Jul 10, 2021

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