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NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2023
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:
RCV003558553.1

Allele description

NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)

Gene:
FZD2:frizzled class receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)
HGVS:
  • NC_000017.11:g.44559332G>A
  • NM_001466.4:c.1644G>AMANE SELECT
  • NP_001457.1:p.Trp548Ter
  • NC_000017.10:g.42636700G>A
  • NM_001466.3:c.1644G>A
Protein change:
W548*; TRP548TER
Links:
OMIM: 600667.0001; dbSNP: rs1568105666
NCBI 1000 Genomes Browser:
rs1568105666

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004298235Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 1, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Long-term observation of a patient with dominant omodysplasia.

Gordon BL, Champaigne NL, Rogers RC, Frias JL, Leroy JG.

Am J Med Genet A. 2014 May;164A(5):1234-8. doi: 10.1002/ajmg.a.36408. Epub 2014 Jan 23.

PubMed [citation]
PMID:
24458798

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW.

Hum Mol Genet. 2015 Jun 15;24(12):3399-409. doi: 10.1093/hmg/ddv088. Epub 2015 Mar 10.

PubMed [citation]
PMID:
25759469
PMCID:
PMC4834928
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV004298235.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects FZD2 function (PMID: 25759469). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 617609). This premature translational stop signal has been observed in individual(s) with clinical features of Robinow syndrome (PMID: 24458798, 25759469, 30455931, 35047859). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp548*) in the FZD2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acid(s) of the FZD2 protein.

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

Last Updated: Sep 1, 2024