NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) AND Anophthalmia-microphthalmia syndrome

Clinical significance:Likely benign (Last evaluated: Jan 1, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000207413.1

Allele description [Variation Report for NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)]

NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)

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.1879G>A (p.Glu627Lys)
HGVS:
  • NC_000004.12:g.1806093G>A
  • NG_012632.1:g.17782G>A
  • NM_000142.5:c.1879G>AMANE SELECT
  • NM_001163213.1:c.1885G>A
  • NM_001354809.2:c.1882G>A
  • NM_001354810.2:c.1882G>A
  • NM_022965.3:c.1543G>A
  • NP_000133.1:p.Glu627Lys
  • NP_000133.1:p.Glu627Lys
  • NP_001156685.1:p.Glu629Lys
  • NP_001341738.1:p.Glu628Lys
  • NP_001341739.1:p.Glu628Lys
  • NP_075254.1:p.Glu515Lys
  • LRG_1021t1:c.1879G>A
  • LRG_1021t2:c.1885G>A
  • LRG_1021:g.17782G>A
  • LRG_1021p1:p.Glu627Lys
  • LRG_1021p2:p.Glu629Lys
  • NC_000004.11:g.1807820G>A
  • NM_000142.4:c.1879G>A
  • NR_148971.2:n.2305G>A
Protein change:
E515K
Links:
dbSNP: rs200849753
NCBI 1000 Genomes Browser:
rs200849753
Molecular consequence:
  • NM_000142.5:c.1879G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.1882G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.1882G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.3:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.2305G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Anophthalmia-microphthalmia syndrome
Synonyms:
Anophthalmia/Microphthalmia; Anophthalmia - microphthalmia
Identifiers:
MONDO: MONDO:0020147; MedGen: CN120488; Orphanet: 98555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000259141Paul Sabatier University EA-4555, Paul Sabatier Universitycriteria provided, single submitter
Likely benign
(Jan 1, 2013)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1noclinical testing

Citations

PubMed

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P.

Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18.

PubMed [citation]
PMID:
26893459
PMCID:
PMC4817771

Details of each submission

From Paul Sabatier University EA-4555, Paul Sabatier University, SCV000259141.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1DNA extracted from blood samplesnot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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