NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001091884.2

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]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001248147CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Jun 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248147.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 10, 2021

Support Center