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NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) AND Dandy-Walker syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001257995.1

Allele description [Variation Report for NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)]

NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)

Gene:
PIBF1:progesterone immunomodulatory binding factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q22.1
Genomic location:
Preferred name:
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
HGVS:
  • NC_000013.11:g.72908550A>G
  • NG_053118.1:g.131527A>G
  • NM_001349655.2:c.1595A>G
  • NM_006346.4:c.1508A>GMANE SELECT
  • NP_001336584.1:p.Tyr532Cys
  • NP_006337.2:p.Tyr503Cys
  • NC_000013.10:g.73482688A>G
  • NM_006346.2:c.1508A>G
  • NR_146205.2:n.1795A>G
  • NR_146206.2:n.1795A>G
Protein change:
Y503C; TYR503CYS
Links:
OMIM: 607532.0004; dbSNP: rs144610914
NCBI 1000 Genomes Browser:
rs144610914
Molecular consequence:
  • NM_001349655.2:c.1595A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006346.4:c.1508A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146205.2:n.1795A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146206.2:n.1795A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
variation affecting protein [Variation Ontology: 0002]

Condition(s)

Name:
Dandy-Walker syndrome (DWS)
Synonyms:
Dandy-Walker malformation
Identifiers:
MONDO: MONDO:0009072; MeSH: D003616; MedGen: C0010964; Orphanet: 217; OMIM: 220200; Human Phenotype Ontology: HP:0001305

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434808University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, et al.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PubMed [citation]
PMID:
31474318
PMCID:
PMC6731369

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434808.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 3, 2022