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NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 12, 2022
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:
RCV002773637.2

Allele description [Variation Report for NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)]

NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)

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.2383G>A (p.Val795Ile)
HGVS:
  • NC_000008.11:g.38413714C>T
  • NG_007729.1:g.60121G>A
  • NG_113979.1:g.729C>T
  • NM_000604.2:c.2383G>A
  • NM_001174063.2:c.2377G>A
  • NM_001174064.2:c.2353G>A
  • NM_001174065.2:c.2377G>A
  • NM_001174066.2:c.2116G>A
  • NM_001174067.2:c.2476G>A
  • NM_001354367.2:c.2286+204G>A
  • NM_001354368.2:c.2104G>A
  • NM_001354369.2:c.2280+204G>A
  • NM_001354370.2:c.2019+204G>A
  • NM_001410922.1:c.2371G>A
  • NM_015850.4:c.2377G>A
  • NM_023105.3:c.2116G>A
  • NM_023106.3:c.2110G>A
  • NM_023110.3:c.2383G>AMANE SELECT
  • NP_000595.1:p.Val795Ile
  • NP_001167534.1:p.Val793Ile
  • NP_001167535.1:p.Val785Ile
  • NP_001167536.1:p.Val793Ile
  • NP_001167537.1:p.Val706Ile
  • NP_001167538.1:p.Val826Ile
  • NP_001341297.1:p.Val702Ile
  • NP_001397851.1:p.Val791Ile
  • NP_056934.2:p.Val793Ile
  • NP_075593.1:p.Val706Ile
  • NP_075594.1:p.Val704Ile
  • NP_075598.2:p.Val795Ile
  • NP_075598.2:p.Val795Ile
  • LRG_993t1:c.2383G>A
  • LRG_993:g.60121G>A
  • LRG_993p1:p.Val795Ile
  • NC_000008.10:g.38271232C>T
  • NM_023110.2:c.2383G>A
Protein change:
V702I
Molecular consequence:
  • NM_001354367.2:c.2286+204G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354369.2:c.2280+204G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354370.2:c.2019+204G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000604.2:c.2383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174063.2:c.2377G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.2353G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.2377G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.2476G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.2104G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410922.1:c.2371G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.2377G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.2110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.2383G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003589083Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 12, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC.

J Clin Endocrinol Metab. 2006 Oct;91(10):4006-12. Epub 2006 Aug 1. Erratum in: J Clin Endocrinol Metab. 2008 May;93(5):2013.

PubMed [citation]
PMID:
16882753

Details of each submission

From Ambry Genetics, SCV003589083.2

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

Description

(Trarbach, 2006) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024