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NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter) AND Renal cyst

Germline classification:
Pathogenic (1 submission)
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:
RCV001526624.1

Allele description [Variation Report for NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)]

NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)

Gene:
DNAJB11:DnaJ heat shock protein family (Hsp40) member B11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.3
Genomic location:
Preferred name:
NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)
HGVS:
  • NC_000003.12:g.186572096C>T
  • NG_034024.1:g.6421C>T
  • NM_001378451.1:c.70C>T
  • NM_016306.6:c.70C>TMANE SELECT
  • NP_001365380.1:p.Arg24Ter
  • NP_057390.1:p.Arg24Ter
  • NC_000003.11:g.186289885C>T
  • NM_016306.4:c.70C>T
  • NR_165638.1:n.248C>T
  • NR_165639.1:n.248C>T
  • NR_165640.1:n.248C>T
  • NR_165641.1:n.248C>T
  • NR_165642.1:n.248C>T
  • NR_165643.1:n.248C>T
Protein change:
R24*
Links:
dbSNP: rs2108473228
NCBI 1000 Genomes Browser:
rs2108473228
Molecular consequence:
  • NR_165638.1:n.248C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165639.1:n.248C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165640.1:n.248C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165641.1:n.248C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165642.1:n.248C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165643.1:n.248C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001378451.1:c.70C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016306.6:c.70C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Renal cyst
Synonyms:
Cystic kidney disease
Identifiers:
MONDO: MONDO:0002473; MedGen: C3887499; Human Phenotype Ontology: HP:0000107

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001737054Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001737054.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024