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NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys) AND Muenke syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 22, 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:
RCV001252959.2

Allele description [Variation Report for NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys)]

NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys)

Gene:
FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys)
HGVS:
  • NC_000004.12:g.1801438C>T
  • NG_012632.1:g.13127C>T
  • NM_000142.5:c.517C>TMANE SELECT
  • NM_001163213.2:c.517C>T
  • NM_001354809.2:c.517C>T
  • NM_001354810.2:c.517C>T
  • NM_022965.4:c.517C>T
  • NP_000133.1:p.Arg173Cys
  • NP_001156685.1:p.Arg173Cys
  • NP_001156685.1:p.Arg173Cys
  • NP_001341738.1:p.Arg173Cys
  • NP_001341739.1:p.Arg173Cys
  • NP_075254.1:p.Arg173Cys
  • LRG_1021t2:c.517C>T
  • LRG_1021:g.13127C>T
  • LRG_1021p2:p.Arg173Cys
  • NC_000004.11:g.1803165C>T
  • NM_001163213.1:c.517C>T
  • NR_148971.2:n.792C>T
  • p.Arg173Cys
Protein change:
R173C
Links:
dbSNP: rs1031160906
NCBI 1000 Genomes Browser:
rs1031160906
Molecular consequence:
  • NM_000142.5:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.4:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.792C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Muenke syndrome (MNKES)
Synonyms:
Muenke nonsyndromic coronal craniosynostosis; Syndrome of coronal craniosynostosis
Identifiers:
MONDO: MONDO:0011274; MedGen: C1864436; Orphanet: 53271; OMIM: 602849

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001427019Clinical Genomics Laboratory, Stanford Medicine
no assertion criteria provided
Uncertain significance
(Oct 22, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Genomics Laboratory, Stanford Medicine, SCV001427019.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

The p.Arg173Cys variant in the FGFR3 gene has not been previously reported in association with disease. This variant was inherited from an unaffected parent. The p.Arg173Cys variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The Arg amino acid at position 173 is not evolutionarily conserved. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Arg173Cys variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2]

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

Last Updated: Jul 7, 2024