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NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser) AND Hypogonadotropic hypogonadism 2 with anosmia

Germline classification:
risk factor (1 submission)
Last evaluated:
Feb 1, 2007
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:
RCV000030933.2

Allele description [Variation Report for NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser)]

NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser)

Gene:
FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.23
Genomic location:
Preferred name:
NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser)
HGVS:
  • NC_000008.11:g.38421853A>G
  • NG_007729.1:g.51982T>C
  • NM_001174063.2:c.1025T>C
  • NM_001174064.2:c.1001T>C
  • NM_001174065.2:c.1019T>C
  • NM_001174066.2:c.758T>C
  • NM_001174067.2:c.1118T>C
  • NM_001354367.2:c.1019T>C
  • NM_001354368.2:c.752T>C
  • NM_001354369.2:c.1019T>C
  • NM_001354370.2:c.752T>C
  • NM_015850.4:c.1019T>C
  • NM_023105.3:c.758T>C
  • NM_023106.3:c.752T>C
  • NM_023110.2:c.1025T>C
  • NM_023110.3:c.1025T>CMANE SELECT
  • NP_001167534.1:p.Leu342Ser
  • NP_001167535.1:p.Leu334Ser
  • NP_001167536.1:p.Leu340Ser
  • NP_001167537.1:p.Leu253Ser
  • NP_001167538.1:p.Leu373Ser
  • NP_001341296.1:p.Leu340Ser
  • NP_001341297.1:p.Leu251Ser
  • NP_001341298.1:p.Leu340Ser
  • NP_001341299.1:p.Leu251Ser
  • NP_056934.2:p.Leu340Ser
  • NP_075593.1:p.Leu253Ser
  • NP_075594.1:p.Leu251Ser
  • NP_075598.2:p.Leu342Ser
  • LRG_993t1:c.1025T>C
  • LRG_993:g.51982T>C
  • NC_000008.10:g.38279371A>G
  • P11362:p.Leu342Ser
Protein change:
L251S; LEU342SER
Links:
UniProtKB: P11362#VAR_069954; OMIM: 136350.0017; dbSNP: rs121909638
NCBI 1000 Genomes Browser:
rs121909638
Molecular consequence:
  • NM_001174063.2:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.1001T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.1019T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.758T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.1118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.2:c.1019T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.752T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.2:c.1019T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354370.2:c.752T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.1019T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.758T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.752T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypogonadotropic hypogonadism 2 with anosmia
Identifiers:
MedGen: C4016104

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037965OMIM
no assertion criteria provided
risk factor
(Feb 1, 2007) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.

Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W.

J Clin Invest. 2007 Feb;117(2):457-63. Epub 2007 Jan 18.

PubMed [citation]
PMID:
17235395
PMCID:
PMC1765517

Details of each submission

From OMIM, SCV000037965.1

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

Description

In a family in which the proband had severe Kallmann syndrome (HH2; 147950), his father had a history of delayed puberty and congenital anosmia, his mother had clinodactyly and Duane ocular retraction syndrome, his sister had midline defects with a bifid nose and high-arched palate, and his brother had clinodactyly alone, Pitteloud et al. (2007) identified heterozygosity for a 1025T-C transition in exon 7 of the FGFR1 gene, resulting in a leu342-to-ser (L342S) substitution in the proband, his father, and his sister. The mutation was not found in 200 controls. Heterozygosity for an additional mutation, an 8-bp deletion in the NELF gene (608137.0002), was identified in the proband, his mother, and his brother. Pitteloud et al. (2007) concluded that defects in 2 different genes can synergize to produce a more severe phenotype in families with idiopathic hypogonadotropic hypogonadism than either alone, and that this digenic model may account for some of the phenotypic heterogeneity seen in GnRH deficiency.

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

Last Updated: Jun 24, 2023