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NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2016
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:
RCV000623459.2

Allele description [Variation Report for NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser)]

NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser)

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.1619A>G (p.Asn540Ser)
HGVS:
  • NC_000004.12:g.1805643A>G
  • NG_012632.1:g.17332A>G
  • NM_000142.5:c.1619A>GMANE SELECT
  • NM_001163213.2:c.1625A>G
  • NM_001354809.2:c.1622A>G
  • NM_001354810.2:c.1622A>G
  • NM_022965.4:c.1283A>G
  • NP_000133.1:p.Asn540Ser
  • NP_000133.1:p.Asn540Ser
  • NP_001156685.1:p.Asn542Ser
  • NP_001341738.1:p.Asn541Ser
  • NP_001341739.1:p.Asn541Ser
  • NP_075254.1:p.Asn428Ser
  • LRG_1021t1:c.1619A>G
  • LRG_1021:g.17332A>G
  • LRG_1021p1:p.Asn540Ser
  • NC_000004.11:g.1807370A>G
  • NM_000142.4:c.1619A>G
  • NR_148971.2:n.2045A>G
  • P22607:p.Asn540Ser
Protein change:
N428S; ASN540SER
Links:
UniProtKB: P22607#VAR_018389; OMIM: 134934.0023; dbSNP: rs77722678
NCBI 1000 Genomes Browser:
rs77722678
Molecular consequence:
  • NM_000142.5:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.2:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.4:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.2045A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741473Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Uncertain significance
(Apr 25, 2016) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.

Grigelioniené G, Hagenäs L, Eklöf O, Neumeyer L, Haereid PE, Anvret M.

Hum Mutat. 1998;11(4):333.

PubMed [citation]
PMID:
10215410

Fibroblast growth factor signaling in skeletal development and disease.

Ornitz DM, Marie PJ.

Genes Dev. 2015 Jul 15;29(14):1463-86. doi: 10.1101/gad.266551.115. Review.

PubMed [citation]
PMID:
26220993
PMCID:
PMC4526732
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000741473.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024