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NM_004464.4(FGF5):c.757C>T (p.Arg253Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 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:
RCV004280459.1

Allele description [Variation Report for NM_004464.4(FGF5):c.757C>T (p.Arg253Trp)]

NM_004464.4(FGF5):c.757C>T (p.Arg253Trp)

Gene:
FGF5:fibroblast growth factor 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.21
Genomic location:
Preferred name:
NM_004464.4(FGF5):c.757C>T (p.Arg253Trp)
HGVS:
  • NC_000004.12:g.80286622C>T
  • NG_029501.1:g.25035C>T
  • NM_001291812.2:c.328C>T
  • NM_004464.4:c.757C>TMANE SELECT
  • NM_033143.2:c.*281C>T
  • NP_001278741.1:p.Arg110Trp
  • NP_004455.2:p.Arg253Trp
  • NC_000004.11:g.81207776C>T
  • NM_004464.3:c.757C>T
Protein change:
R110W
Molecular consequence:
  • NM_033143.2:c.*281C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001291812.2:c.328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004464.4:c.757C>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
SCV003900365Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 1, 2023) 		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 Ambry Genetics, SCV003900365.2

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

Description

The c.757C>T (p.R253W) alteration is located in exon 3 (coding exon 3) of the FGF5 gene. This alteration results from a C to T substitution at nucleotide position 757, causing the arginine (R) at amino acid position 253 to be replaced by a tryptophan (W). 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: Oct 26, 2024