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NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro) AND Hypogonadotropic hypogonadism 2 with or without anosmia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2019
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:
RCV001293690.1

Allele description [Variation Report for NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro)]

NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro)

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.2138T>C (p.Leu713Pro)
HGVS:
  • NC_000008.11:g.38414200A>G
  • NG_007729.1:g.59635T>C
  • NM_001174063.2:c.2132T>C
  • NM_001174064.2:c.2108T>C
  • NM_001174065.2:c.2132T>C
  • NM_001174066.2:c.1871T>C
  • NM_001174067.2:c.2231T>C
  • NM_001354367.2:c.2132T>C
  • NM_001354368.2:c.1859T>C
  • NM_001354369.2:c.2126T>C
  • NM_001354370.2:c.1865T>C
  • NM_015850.4:c.2132T>C
  • NM_023105.3:c.1871T>C
  • NM_023106.3:c.1865T>C
  • NM_023110.3:c.2138T>CMANE SELECT
  • NP_001167534.1:p.Leu711Pro
  • NP_001167535.1:p.Leu703Pro
  • NP_001167536.1:p.Leu711Pro
  • NP_001167537.1:p.Leu624Pro
  • NP_001167538.1:p.Leu744Pro
  • NP_001341296.1:p.Leu711Pro
  • NP_001341297.1:p.Leu620Pro
  • NP_001341298.1:p.Leu709Pro
  • NP_001341299.1:p.Leu622Pro
  • NP_056934.2:p.Leu711Pro
  • NP_075593.1:p.Leu624Pro
  • NP_075594.1:p.Leu622Pro
  • NP_075598.2:p.Leu713Pro
  • LRG_993t1:c.2138T>C
  • LRG_993:g.59635T>C
  • NC_000008.10:g.38271718A>G
  • NM_023110.2:c.2138T>C
Protein change:
L620P
Links:
dbSNP: rs1815455535
NCBI 1000 Genomes Browser:
rs1815455535
Molecular consequence:
  • NM_001174063.2:c.2132T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.2108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.2132T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.1871T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.2231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.2:c.2132T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.1859T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.2:c.2126T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354370.2:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.2132T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.1871T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.2138T>C - 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
SCV001482321Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
no assertion criteria provided
Likely pathogenic
(May 31, 2019) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital, SCV001482321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 9, 2023