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

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 1, 2021)
Last evaluated:
Nov 30, 2019
Accession:
VCV000065916.3
Variation ID:
65916
Description:
single nucleotide variant
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NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile)

Allele ID
76824
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1803744 (GRCh38) GRCh38 UCSC
4: 1805471 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1021:g.15433A>T
LRG_1021t1:c.983A>T LRG_1021p1:p.Asn328Ile
NM_000142.4:c.983A>T NP_000133.1:p.Asn328Ile missense
... more HGVS
Protein change
N328I
Other names
c.983A>T
Canonical SPDI
NC_000004.12:1803743:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA345257
dbSNP: rs587778817
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 30, 2019 RCV001596949.1
Pathogenic 1 no assertion criteria provided Sep 26, 2013 RCV000056162.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGFR3 No evidence available No evidence available GRCh38
GRCh37
401 537

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 30, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV001832360.1
Submitted: (Sep 01, 2021)
Comment:
Patient analyzed with Comprehensive Skeletal Dysplasias and Disorders Panel
Evidence details
pathologic
(Sep 26, 2013)
no assertion criteria provided
Method: curation
Hypochondroplasia
Allele origin: not provided
GeneReviews
Accession: SCV000087247.1
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Hypochondroplasia Bober MB - 2020 PMID: 20301650

Text-mined citations for rs587778817...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 06, 2021