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NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 1, 2020
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:
RCV001756578.2

Allele description [Variation Report for NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg)]

NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg)

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.2107G>C (p.Gly703Arg)
HGVS:
  • NC_000008.11:g.38414231C>G
  • NG_007729.1:g.59604G>C
  • NM_001174063.2:c.2101G>C
  • NM_001174064.2:c.2077G>C
  • NM_001174065.2:c.2101G>C
  • NM_001174066.2:c.1840G>C
  • NM_001174067.2:c.2200G>C
  • NM_001354367.2:c.2101G>C
  • NM_001354368.2:c.1828G>C
  • NM_001354369.2:c.2095G>C
  • NM_001354370.2:c.1834G>C
  • NM_015850.4:c.2101G>C
  • NM_023105.3:c.1840G>C
  • NM_023106.3:c.1834G>C
  • NM_023110.3:c.2107G>CMANE SELECT
  • NP_001167534.1:p.Gly701Arg
  • NP_001167535.1:p.Gly693Arg
  • NP_001167536.1:p.Gly701Arg
  • NP_001167537.1:p.Gly614Arg
  • NP_001167538.1:p.Gly734Arg
  • NP_001341296.1:p.Gly701Arg
  • NP_001341297.1:p.Gly610Arg
  • NP_001341298.1:p.Gly699Arg
  • NP_001341299.1:p.Gly612Arg
  • NP_056934.2:p.Gly701Arg
  • NP_075593.1:p.Gly614Arg
  • NP_075594.1:p.Gly612Arg
  • NP_075598.2:p.Gly703Arg
  • LRG_993t1:c.2107G>C
  • LRG_993:g.59604G>C
  • NC_000008.10:g.38271749C>G
  • NM_023110.2:c.2107G>C
Protein change:
G610R
Links:
dbSNP: rs768957161
NCBI 1000 Genomes Browser:
rs768957161
Molecular consequence:
  • NM_001174063.2:c.2101G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.2101G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.1840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.2200G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.2:c.2101G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.1828G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.2:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354370.2:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.2101G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.1840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.2107G>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
SCV001986028GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 1, 2020) 		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, SCV001986028.2

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

Description

Reported in a patient with idiopathic hypogonadotropic hypogonadism, absent puberty, cryptorchidism, and anosmia in the published literature (Pitteloud et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23329143, 23643382, 19707180, 16764984)

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

Last Updated: Dec 24, 2023