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NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) AND 8q24.3 microdeletion syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 2018
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:
RCV000735801.1

Allele description [Variation Report for NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)]

NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)

Gene:
PUF60:poly(U) binding splicing factor 60 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)
HGVS:
  • NC_000008.11:g.143816752A>G
  • NG_030583.1:g.3628T>C
  • NG_033879.1:g.17635T>C
  • NM_001136033.3:c.1319T>C
  • NM_001271096.2:c.1394T>C
  • NM_001271097.2:c.1310T>C
  • NM_001271098.2:c.1445T>C
  • NM_001271099.2:c.1361T>C
  • NM_001271100.2:c.1268T>C
  • NM_001362895.2:c.1559T>C
  • NM_001362896.2:c.1559T>C
  • NM_001362897.2:c.1508T>C
  • NM_014281.5:c.1397T>C
  • NM_078480.3:c.1448T>CMANE SELECT
  • NP_001129505.1:p.Val440Ala
  • NP_001258025.1:p.Val465Ala
  • NP_001258026.1:p.Val437Ala
  • NP_001258027.1:p.Val482Ala
  • NP_001258028.1:p.Val454Ala
  • NP_001258029.1:p.Val423Ala
  • NP_001349824.1:p.Val520Ala
  • NP_001349825.1:p.Val520Ala
  • NP_001349826.1:p.Val503Ala
  • NP_055096.2:p.Val466Ala
  • NP_510965.1:p.Val483Ala
  • NC_000008.10:g.144898922A>G
  • NM_078480.2:c.1448T>C
Protein change:
V423A; VAL483ALA
Links:
OMIM: 604819.0006; dbSNP: rs1563818514
NCBI 1000 Genomes Browser:
rs1563818514
Molecular consequence:
  • NM_001136033.3:c.1319T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271096.2:c.1394T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271097.2:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271098.2:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271099.2:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271100.2:c.1268T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362895.2:c.1559T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362896.2:c.1559T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362897.2:c.1508T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014281.5:c.1397T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_078480.3:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
8q24.3 microdeletion syndrome
Synonyms:
CHROMOSOME 8q24.3 DELETION SYNDROME; Verheij syndrome
Identifiers:
MONDO: MONDO:0014263; MedGen: C3810023; OMIM: 615583

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000863963OMIM
no assertion criteria provided
Pathogenic
(Dec 21, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, et al.

Eur J Hum Genet. 2016 Jan;25(1):43-51. doi: 10.1038/ejhg.2016.133. Epub 2016 Nov 2.

PubMed [citation]
PMID:
27804958
PMCID:
PMC5159768

Details of each submission

From OMIM, SCV000863963.1

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

Description

In a 7-year-old boy (patient 3) with Verheij syndrome (VFJS; 6155830), El Chehadeh et al. (2017) identified a de novo heterozygous c.1448T-C transition (c.1448T-C, NM_078489.2) in the PUF60 gene, resulting in a val483-to-ala (V483A) substitution. The variant was absent from the dbSNP (build 142), Exome Variant Server, and ExAC databases accessed June 2016.

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

Last Updated: Apr 23, 2022