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NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 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:
RCV001002536.8

Allele description [Variation Report for NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)]

NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)

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.1694C>T (p.Ser565Phe)
HGVS:
  • NC_000008.11:g.38416030G>A
  • NG_007729.1:g.57805C>T
  • NM_001174063.2:c.1688C>T
  • NM_001174064.2:c.1664C>T
  • NM_001174065.2:c.1688C>T
  • NM_001174066.2:c.1427C>T
  • NM_001174067.2:c.1787C>T
  • NM_001354367.2:c.1688C>T
  • NM_001354368.2:c.1415C>T
  • NM_001354369.2:c.1682C>T
  • NM_001354370.2:c.1421C>T
  • NM_015850.4:c.1688C>T
  • NM_023105.3:c.1427C>T
  • NM_023106.3:c.1421C>T
  • NM_023110.3:c.1694C>TMANE SELECT
  • NP_001167534.1:p.Ser563Phe
  • NP_001167535.1:p.Ser555Phe
  • NP_001167536.1:p.Ser563Phe
  • NP_001167537.1:p.Ser476Phe
  • NP_001167538.1:p.Ser596Phe
  • NP_001341296.1:p.Ser563Phe
  • NP_001341297.1:p.Ser472Phe
  • NP_001341298.1:p.Ser561Phe
  • NP_001341299.1:p.Ser474Phe
  • NP_056934.2:p.Ser563Phe
  • NP_075593.1:p.Ser476Phe
  • NP_075594.1:p.Ser474Phe
  • NP_075598.2:p.Ser565Phe
  • LRG_993t1:c.1694C>T
  • LRG_993:g.57805C>T
  • NC_000008.10:g.38273548G>A
  • NM_023110.2:c.1694C>T
Protein change:
S472F
Links:
dbSNP: rs768223019
NCBI 1000 Genomes Browser:
rs768223019
Molecular consequence:
  • NM_001174063.2:c.1688C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.1664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.1688C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.1427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.1787C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.2:c.1688C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.1415C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.2:c.1682C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354370.2:c.1421C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.1688C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.1427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.1421C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.1694C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001160499ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(May 3, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160499.1

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

Description

The FGFR1 c.1694C>T; p.Ser565Phe variant (rs768223019), to our knowledge, is not described in the medical literature or in gene-specific databases, and is observed on only 1 allele in the Genome Aggregation Database. The serine at codon 565 is moderately conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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

Last Updated: Sep 29, 2024