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NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile) AND Hypogonadotropic hypogonadism 2 with or without anosmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 24, 2013
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:
RCV000119060.1

Allele description [Variation Report for NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)]

NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)

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.2084C>T (p.Thr695Ile)
HGVS:
  • NC_000008.11:g.38414254G>A
  • NG_007729.1:g.59581C>T
  • NM_001174063.2:c.2078C>T
  • NM_001174064.2:c.2054C>T
  • NM_001174065.2:c.2078C>T
  • NM_001174066.2:c.1817C>T
  • NM_001174067.2:c.2177C>T
  • NM_001354367.2:c.2078C>T
  • NM_001354368.2:c.1805C>T
  • NM_001354369.2:c.2072C>T
  • NM_001354370.2:c.1811C>T
  • NM_015850.4:c.2078C>T
  • NM_023105.3:c.1817C>T
  • NM_023106.3:c.1811C>T
  • NM_023110.3:c.2084C>TMANE SELECT
  • NP_001167534.1:p.Thr693Ile
  • NP_001167535.1:p.Thr685Ile
  • NP_001167536.1:p.Thr693Ile
  • NP_001167537.1:p.Thr606Ile
  • NP_001167538.1:p.Thr726Ile
  • NP_001341296.1:p.Thr693Ile
  • NP_001341297.1:p.Thr602Ile
  • NP_001341298.1:p.Thr691Ile
  • NP_001341299.1:p.Thr604Ile
  • NP_056934.2:p.Thr693Ile
  • NP_075593.1:p.Thr606Ile
  • NP_075594.1:p.Thr604Ile
  • NP_075598.2:p.Thr695Ile
  • LRG_993:g.59581C>T
  • NC_000008.10:g.38271772G>A
Protein change:
T602I
Links:
dbSNP: rs515726225
NCBI 1000 Genomes Browser:
rs515726225
Molecular consequence:
  • NM_001174063.2:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.2054C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.1817C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.2:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.1805C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.2:c.2072C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354370.2:c.1811C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.1817C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.1811C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.2084C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Synonyms:
Kallmann syndrome 2; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007844; MedGen: C1563720; Orphanet: 478; OMIM: 147950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000153779Endocrinology Clinic, Seth G.S. Medical College
no assertion criteria provided
Pathogenic
(Oct 24, 2013) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiangermlineyes1not providednot provided100not providedresearch

Citations

PubMed

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.

Vizeneux A, Hilfiger A, Bouligand J, Pouillot M, Brailly-Tabard S, Bashamboo A, McElreavey K, Brauner R.

PLoS One. 2013;8(10):e77827. doi: 10.1371/journal.pone.0077827.

PubMed [citation]
PMID:
24204987
PMCID:
PMC3812007

Details of each submission

From Endocrinology Clinic, Seth G.S. Medical College, SCV000153779.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes100Bloodnot provided1not providednot providednot provided

Last Updated: Apr 23, 2022