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NM_021964.3(ZNF148):c.1583dup (p.Ser529fs) AND Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2016
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:
RCV000415539.1

Allele description [Variation Report for NM_021964.3(ZNF148):c.1583dup (p.Ser529fs)]

NM_021964.3(ZNF148):c.1583dup (p.Ser529fs)

Genes:
LOC126806798:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:124950809-124952008 [Gene]
ZNF148:zinc finger protein 148 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q21.2
Genomic location:
Preferred name:
NM_021964.3(ZNF148):c.1583dup (p.Ser529fs)
HGVS:
  • NC_000003.12:g.125233144dup
  • NG_052987.1:g.147212dup
  • NM_001348424.1:c.1583dup
  • NM_001348425.2:c.1583dup
  • NM_001348426.2:c.1583dup
  • NM_001348427.2:c.1583dup
  • NM_001348428.2:c.1583dup
  • NM_001348429.2:c.1583dup
  • NM_001348430.2:c.1583dup
  • NM_001348431.2:c.1583dup
  • NM_001348432.2:c.1583dup
  • NM_001348433.2:c.1583dup
  • NM_001348434.2:c.1457dup
  • NM_021964.3:c.1583dupMANE SELECT
  • NP_001335353.1:p.Ser529fs
  • NP_001335354.1:p.Ser529fs
  • NP_001335355.1:p.Ser529fs
  • NP_001335356.1:p.Ser529fs
  • NP_001335357.1:p.Ser529fs
  • NP_001335358.1:p.Ser529fs
  • NP_001335359.1:p.Ser529fs
  • NP_001335360.1:p.Ser529fs
  • NP_001335361.1:p.Ser529fs
  • NP_001335362.1:p.Ser529fs
  • NP_001335363.1:p.Ser487fs
  • NP_068799.2:p.Ser529fs
  • NP_068799.2:p.Ser529fs
  • NC_000003.11:g.124951988dup
  • NM_021964.2:c.1583dup
Protein change:
S487fs
Links:
OMIM: 601897.0002; dbSNP: rs1057519266
NCBI 1000 Genomes Browser:
rs1057519266
Molecular consequence:
  • NM_001348424.1:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348425.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348426.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348427.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348428.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348429.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348430.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348431.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348432.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348433.2:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348434.2:c.1457dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021964.3:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF)
Identifiers:
MONDO: MONDO:0014994; MedGen: C4310644; OMIM: 617260

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000493929OMIM
no assertion criteria provided
Pathogenic
(Dec 20, 2016) 		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

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.

Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG.

Genome Med. 2016 Dec 13;8(1):131.

PubMed [citation]
PMID:
27964749
PMCID:
PMC5155377

Details of each submission

From OMIM, SCV000493929.1

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

Description

In a male infant with global developmental delay, absent corpus callosum, and dysmorphic facies (GDACCF; 617260), Stevens et al. (2016) identified a de novo heterozygous 1-bp duplication (c.1583dup, NM_021964.2) in exon 9 of the ZNF148 gene, resulting in a frameshift and premature termination (Ser529GlufsTer2). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the ExAC database (May 19, 2016). Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to escape nonsense-mediated mRNA decay and be expressed, possibly resulting in a gain-of-function effect.

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

Last Updated: Oct 14, 2023