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NM_006494.4(ERF):c.194G>A (p.Arg65Gln) AND Craniosynostosis 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2013
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:
RCV000049339.5

Allele description [Variation Report for NM_006494.4(ERF):c.194G>A (p.Arg65Gln)]

NM_006494.4(ERF):c.194G>A (p.Arg65Gln)

Gene:
ERF:ETS2 repressor factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)
HGVS:
  • NC_000019.10:g.42250394C>T
  • NG_042802.1:g.9771G>A
  • NM_001301035.2:c.-32G>A
  • NM_001308402.2:c.-32G>A
  • NM_001312656.2:c.-32G>A
  • NM_006494.4:c.194G>AMANE SELECT
  • NP_006485.2:p.Arg65Gln
  • NC_000019.9:g.42754546C>T
  • NM_006494.2:c.194G>A
  • P50548:p.Arg65Gln
Protein change:
R65Q; ARG65GLN
Links:
UniProtKB: P50548#VAR_070098; OMIM: 611888.0004; dbSNP: rs587777009
NCBI 1000 Genomes Browser:
rs587777009
Molecular consequence:
  • NM_001301035.2:c.-32G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001308402.2:c.-32G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001312656.2:c.-32G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_006494.4:c.194G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Craniosynostosis 4
Synonyms:
Lambdoid synostosis; Lambdoidal craniosynostosis
Identifiers:
MONDO: MONDO:0010929; MedGen: C1833340; OMIM: 600775; Human Phenotype Ontology: HP:0004443

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081771OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2013) 		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

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, et al.

Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27.

PubMed [citation]
PMID:
23354439
PMCID:
PMC3683605

Details of each submission

From OMIM, SCV000081771.2

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

Description

In a 9.9-year-old boy with craniosynostosis (CRS4; 600775), Twigg et al. (2013) identified heterozygosity for a c.194G-A transition in exon 2 of the ERF gene, resulting in an arg65-to-gln (R65Q) substitution at a conserved residue in the ETS domain. The boy, who was diagnosed with nonsyndromic craniosynostosis involving the sagittal and right coronal sutures, also had a platelet disorder. He inherited the mutation from his mother, who was macrocephalic without known craniosynostosis.

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

Last Updated: Apr 15, 2024