NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) AND Levy-Hollister syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 6, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000656386.2

Allele description [Variation Report for NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn)]

NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn)

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.1882G>A (p.Asp628Asn)
HGVS:
  • NC_000004.12:g.1806096G>A
  • NG_012632.1:g.17785G>A
  • NM_000142.5:c.1882G>AMANE SELECT
  • NM_001163213.2:c.1888G>A
  • NM_001354809.2:c.1885G>A
  • NM_001354810.2:c.1885G>A
  • NM_022965.4:c.1546G>A
  • NP_000133.1:p.Asp628Asn
  • NP_000133.1:p.Asp628Asn
  • NP_001156685.1:p.Asp630Asn
  • NP_001341738.1:p.Asp629Asn
  • NP_001341739.1:p.Asp629Asn
  • NP_075254.1:p.Asp516Asn
  • LRG_1021t1:c.1882G>A
  • LRG_1021:g.17785G>A
  • LRG_1021p1:p.Asp628Asn
  • NC_000004.11:g.1807823G>A
  • NM_000142.4:c.1882G>A
  • NR_148971.2:n.2308G>A
Protein change:
D516N; ASP628ASN
Links:
OMIM: 134934.0038; dbSNP: rs1453271838
NCBI 1000 Genomes Browser:
rs1453271838
Molecular consequence:
  • NM_000142.5:c.1882G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.2:c.1888G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.4:c.1546G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.2308G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Levy-Hollister syndrome (LADD)
Synonyms:
LADD syndrome
Identifiers:
MONDO: MONDO:0007872; MedGen: C0265269; Orphanet: 2363; OMIM: 149730

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000778392OMIMno assertion criteria providedPathogenic
(Jun 6, 2018)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.

Talebi F, Ghanbari Mardasi F, Mohammadi Asl J, Bavarsad AH, Tizno S.

Int J Pediatr Otorhinolaryngol. 2017 Jun;97:192-196. doi: 10.1016/j.ijporl.2017.04.016. Epub 2017 Apr 12. Review.

PubMed [citation]
PMID:
28483234

Details of each submission

From OMIM, SCV000778392.1

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

Description

In a 23-year-old proband and his affected mother in a consanguineous Iranian family with LADD syndrome (149730), Talebi et al. (2017) identified a heterozygous c.1882G-A transition in exon 14 of the FGFR3 gene, resulting in an asp628-to-asn (D628N) substitution at a highly conserved residue in the cytoplasmic tyrosine kinase domain. The mutation, which was found by next-generation sequencing and confirmed by Sanger sequencing, was not present in the unaffected father or in 400 control chromosomes. No functional studies were reported.

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

Last Updated: Oct 24, 2021

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