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NM_023110.3(FGFR1):c.2302G>C (p.Asp768His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 22, 2019
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:
RCV001756577.2

Allele description [Variation Report for NM_023110.3(FGFR1):c.2302G>C (p.Asp768His)]

NM_023110.3(FGFR1):c.2302G>C (p.Asp768His)

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.2302G>C (p.Asp768His)
HGVS:
  • NC_000008.11:g.38413795C>G
  • NG_007729.1:g.60040G>C
  • NM_001174063.2:c.2296G>C
  • NM_001174064.2:c.2272G>C
  • NM_001174065.2:c.2296G>C
  • NM_001174066.2:c.2035G>C
  • NM_001174067.2:c.2395G>C
  • NM_001354367.2:c.2286+123G>C
  • NM_001354368.2:c.2023G>C
  • NM_001354369.2:c.2280+123G>C
  • NM_001354370.2:c.2019+123G>C
  • NM_015850.4:c.2296G>C
  • NM_023105.3:c.2035G>C
  • NM_023106.3:c.2029G>C
  • NM_023110.3:c.2302G>CMANE SELECT
  • NP_001167534.1:p.Asp766His
  • NP_001167535.1:p.Asp758His
  • NP_001167536.1:p.Asp766His
  • NP_001167537.1:p.Asp679His
  • NP_001167538.1:p.Asp799His
  • NP_001341297.1:p.Asp675His
  • NP_056934.2:p.Asp766His
  • NP_075593.1:p.Asp679His
  • NP_075594.1:p.Asp677His
  • NP_075598.2:p.Asp768His
  • LRG_993t1:c.2302G>C
  • LRG_993:g.60040G>C
  • NC_000008.10:g.38271313C>G
  • NM_023110.2:c.2302G>C
Protein change:
D675H
Links:
dbSNP: rs121909644
NCBI 1000 Genomes Browser:
rs121909644
Molecular consequence:
  • NM_001354367.2:c.2286+123G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354369.2:c.2280+123G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354370.2:c.2019+123G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001174063.2:c.2296G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.2272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.2296G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.2035G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.2395G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.2023G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.2296G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.2035G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.2029G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.2302G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001986027GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 22, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001986027.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified in several patients with hypogonadotropic hypogonadism in published literature, including at least one individual with Kallman syndrome, but segregation information was either not provided or showed the variant in unaffected family members (Sykiotis et al., 2010; Quaynor et al., 2011; Shaw et al., 2011; Chan et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20696889, 22035731, 25226293, 21209029)

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

Last Updated: Dec 24, 2023