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NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 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:
RCV003801112.1

Allele description

NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)

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.2425C>T (p.Arg809Ter)
Other names:
p.Arg807Ter
HGVS:
  • NC_000008.11:g.38413672G>A
  • NG_007729.1:g.60163C>T
  • NG_113979.1:g.687G>A
  • NM_000604.2:c.2425C>T
  • NM_001174063.2:c.2419C>T
  • NM_001174064.2:c.2395C>T
  • NM_001174065.2:c.2419C>T
  • NM_001174066.2:c.2158C>T
  • NM_001174067.2:c.2518C>T
  • NM_001354367.2:c.2286+246C>T
  • NM_001354368.2:c.2146C>T
  • NM_001354369.2:c.2280+246C>T
  • NM_001354370.2:c.2019+246C>T
  • NM_001410922.1:c.2413C>T
  • NM_015850.4:c.2419C>T
  • NM_023105.3:c.2158C>T
  • NM_023106.3:c.2152C>T
  • NM_023110.3:c.2425C>TMANE SELECT
  • NP_000595.1:p.Arg809Ter
  • NP_001167534.1:p.Arg807Ter
  • NP_001167535.1:p.Arg799Ter
  • NP_001167536.1:p.Arg807Ter
  • NP_001167537.1:p.Arg720Ter
  • NP_001167538.1:p.Arg840Ter
  • NP_001341297.1:p.Arg716Ter
  • NP_001397851.1:p.Arg805Ter
  • NP_056934.2:p.Arg807Ter
  • NP_075593.1:p.Arg720Ter
  • NP_075594.1:p.Arg718Ter
  • NP_075598.2:p.Arg809Ter
  • NP_075598.2:p.Arg809Ter
  • LRG_993t1:c.2425C>T
  • LRG_993:g.60163C>T
  • LRG_993p1:p.Arg809Ter
  • NC_000008.10:g.38271190G>A
  • NM_023110.2:c.2425C>T
Protein change:
R716*
Molecular consequence:
  • NM_001354367.2:c.2286+246C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354369.2:c.2280+246C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354370.2:c.2019+246C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000604.2:c.2425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174063.2:c.2419C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174064.2:c.2395C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174065.2:c.2419C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174066.2:c.2158C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174067.2:c.2518C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354368.2:c.2146C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001410922.1:c.2413C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015850.4:c.2419C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_023105.3:c.2158C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_023106.3:c.2152C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_023110.3:c.2425C>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
SCV004592626Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004592626.1

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

Description

This sequence change creates a premature translational stop signal (p.Arg809*) in the FGFR1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the FGFR1 protein. This variant is present in population databases (rs775166971, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 1, 2024