NM_198391.3(FLRT3):c.205C>A (p.Gln69Lys) AND HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

Clinical significance:risk factor (Last evaluated: May 2, 2013)

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:
RCV000043604.3

Allele description [Variation Report for NM_198391.3(FLRT3):c.205C>A (p.Gln69Lys)]

NM_198391.3(FLRT3):c.205C>A (p.Gln69Lys)

Genes:
FLRT3:fibronectin leucine rich transmembrane protein 3 [Gene - OMIM - HGNC]
MACROD2:mono-ADP ribosylhydrolase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p12.1
Genomic location:
Preferred name:
NM_198391.3(FLRT3):c.205C>A (p.Gln69Lys)
HGVS:
  • NC_000020.11:g.14327302G>T
  • NG_033913.1:g.15366C>A
  • NG_054905.1:g.336803G>T
  • NM_001351661.2:c.272-166177G>T
  • NM_001351663.2:c.272-166177G>T
  • NM_013281.3:c.205C>A
  • NM_080676.6:c.272-166177G>T
  • NM_198391.3:c.205C>A
  • NP_037413.1:p.Gln69Lys
  • NP_938205.1:p.Gln69Lys
  • NC_000020.10:g.14307948G>T
  • Q9NZU0:p.Gln69Lys
Protein change:
Q69K; GLN69LYS
Links:
UniProtKB: Q9NZU0#VAR_069950; OMIM: 604808.0003; dbSNP: rs398124653
NCBI 1000 Genomes Browser:
rs398124653
Molecular consequence:
  • NM_001351661.2:c.272-166177G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351663.2:c.272-166177G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080676.6:c.272-166177G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_013281.3:c.205C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198391.3:c.205C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000071622OMIMno assertion criteria providedrisk factor
(May 2, 2013)
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

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, et al.

Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.

PubMed [citation]
PMID:
23643382
PMCID:
PMC3644636

Details of each submission

From OMIM, SCV000071622.2

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

Description

In a female proband with congenital hypogonadotropic hypogonadism (HH21; 615271), who was anosmic and also had hearing loss and low bone mass, Miraoui et al. (2013) identified heterozygosity for a c.205C-A transversion in exon 3 of the FLRT3 gene, resulting in a gln69-to-lys (Q69K) substitution at a highly conserved residue in the leucine-rich domain. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The patient was also heterozygous for a missense mutation in the FGFR1 gene (E670K; 136350.0029).

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

Last Updated: Nov 2, 2019

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