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

Clinical significance:Likely benign (Last evaluated: Jun 22, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001532499.4

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:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001748092CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Jun 1, 2021)
germlineclinical testing

Citation Link,

SCV001783852GeneDxcriteria provided, single submitter
Likely benign
(Jun 22, 2021)
germlineclinical testing

Citation Link,

SCV001969195Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001748092.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV001783852.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001969195.1

#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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