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NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 12, 2017
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:
RCV000644518.4

Allele description [Variation Report for NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)]

NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)

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.214C>T (p.Gln72Ter)
HGVS:
  • NC_000008.11:g.38429826G>A
  • NG_007729.1:g.44009C>T
  • NM_001174063.2:c.214C>T
  • NM_001174064.2:c.190C>T
  • NM_001174065.2:c.214C>T
  • NM_001174066.2:c.92-1391C>T
  • NM_001174067.2:c.313C>T
  • NM_001354367.2:c.214C>T
  • NM_001354368.2:c.92-1391C>T
  • NM_001354369.2:c.214C>T
  • NM_001354370.2:c.92-1391C>T
  • NM_015850.4:c.214C>T
  • NM_023105.3:c.92-1391C>T
  • NM_023106.3:c.92-1391C>T
  • NM_023110.3:c.214C>TMANE SELECT
  • NP_001167534.1:p.Gln72Ter
  • NP_001167535.1:p.Gln64Ter
  • NP_001167536.1:p.Gln72Ter
  • NP_001167538.1:p.Gln105Ter
  • NP_001341296.1:p.Gln72Ter
  • NP_001341298.1:p.Gln72Ter
  • NP_056934.2:p.Gln72Ter
  • NP_075598.2:p.Gln72Ter
  • NP_075598.2:p.Gln72Ter
  • LRG_993t1:c.214C>T
  • LRG_993:g.44009C>T
  • LRG_993p1:p.Gln72Ter
  • NC_000008.10:g.38287344G>A
  • NM_023110.2:c.214C>T
Protein change:
Q105*
Links:
dbSNP: rs1554570813
NCBI 1000 Genomes Browser:
rs1554570813
Molecular consequence:
  • NM_001174066.2:c.92-1391C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354368.2:c.92-1391C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354370.2:c.92-1391C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_023105.3:c.92-1391C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_023106.3:c.92-1391C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001174063.2:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174064.2:c.190C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174065.2:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174067.2:c.313C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354367.2:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354369.2:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015850.4:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_023110.3:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]

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
Name:
Pfeiffer syndrome (ACS5)
Synonyms:
ACS V; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5
Identifiers:
MONDO: MONDO:0007043; MedGen: C0220658; Orphanet: 710; OMIM: 101600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000766217Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 12, 2017) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, et al.

Nat Genet. 2003 Apr;33(4):463-5. Epub 2003 Mar 10.

PubMed [citation]
PMID:
12627230

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Quaynor SD, Bosley ME, Duckworth CG, Porter KR, Kim SH, Kim HG, Chorich LP, Sullivan ME, Choi JH, Cameron RS, Layman LC.

Mol Cell Endocrinol. 2016 Dec 5;437:86-96. doi: 10.1016/j.mce.2016.08.007. Epub 2016 Aug 5.

PubMed [citation]
PMID:
27502037
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000766217.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln72*) in the FGFR1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FGFR1 are known to be pathogenic (PMID: 12627230). This variant has been reported in an individual affected with Kallman syndrome (PMID: 27502037). This variant is not present in population databases (ExAC no frequency).

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

Last Updated: Sep 29, 2024