NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Nov 30, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001596949.1

Allele description [Variation Report for NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile)]

NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile)

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.983A>T (p.Asn328Ile)
HGVS:
  • NC_000004.12:g.1803744A>T
  • NG_012632.1:g.15433A>T
  • NM_000142.4:c.983A>T
  • NM_000142.5:c.983A>TMANE SELECT
  • NM_001163213.2:c.1082-586A>T
  • NM_001354809.2:c.983A>T
  • NM_001354810.2:c.983A>T
  • NM_022965.4:c.931-1080A>T
  • NP_000133.1:p.Asn328Ile
  • NP_000133.1:p.Asn328Ile
  • NP_001341738.1:p.Asn328Ile
  • NP_001341739.1:p.Asn328Ile
  • LRG_1021t1:c.983A>T
  • LRG_1021:g.15433A>T
  • LRG_1021p1:p.Asn328Ile
  • NC_000004.11:g.1805471A>T
  • NR_148971.2:n.1409A>T
Nucleotide change:
c.983A>T
Protein change:
N328I
Links:
dbSNP: rs587778817
NCBI 1000 Genomes Browser:
rs587778817
Molecular consequence:
  • NM_001163213.2:c.1082-586A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022965.4:c.931-1080A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000142.4:c.983A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000142.5:c.983A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.983A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.983A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.1409A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001832360Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 30, 2019)
germlineclinical testing

Citation Link

Description

Patient analyzed with Comprehensive Skeletal Dysplasias and Disorders Panel

SCV001832360

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001832360.1

#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: Nov 6, 2021

Support Center