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NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser) AND Hypogonadotropic hypogonadism 2 with or without anosmia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 4, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003234536.1

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 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
SCV003932545Reproductive Endocrine Unit, Massachusetts General Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 4, 2023) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Reproductive Endocrine Unit, Massachusetts General Hospital, SCV003932545.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

The variant has been classified as LP2 based on the variant meeting the following ACMG Criteria: PS3,PM2,PP3,PP2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 24, 2023