NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) AND not specified

Clinical significance:Benign (Last evaluated: Apr 22, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000179257.2

Allele description [Variation Report for NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)]

NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)

Gene:
FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)
HGVS:
  • NC_000004.12:g.1801682C>T
  • NG_012632.1:g.13371C>T
  • NM_000142.5:c.678C>TMANE SELECT
  • NM_001163213.1:c.678C>T
  • NM_001354809.2:c.678C>T
  • NM_001354810.2:c.678C>T
  • NM_022965.3:c.678C>T
  • NP_000133.1:p.Tyr226=
  • NP_000133.1:p.Tyr226=
  • NP_001156685.1:p.Tyr226=
  • NP_001341738.1:p.Tyr226=
  • NP_001341739.1:p.Tyr226=
  • NP_075254.1:p.Tyr226=
  • LRG_1021t1:c.678C>T
  • LRG_1021t2:c.678C>T
  • LRG_1021:g.13371C>T
  • LRG_1021p1:p.Tyr226=
  • LRG_1021p2:p.Tyr226=
  • NC_000004.11:g.1803409C>T
  • NM_000142.4:c.678C>T
  • NR_148971.2:n.953C>T
Links:
dbSNP: rs141575580
NCBI 1000 Genomes Browser:
rs141575580
Molecular consequence:
  • NR_148971.2:n.953C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000142.5:c.678C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001163213.1:c.678C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354809.2:c.678C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354810.2:c.678C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022965.3:c.678C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000231478EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Apr 22, 2015)
germlineclinical testing

Citation Link,

SCV001799955Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000231478.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799955.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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