NM_000142.5(FGFR3):c.1190G>A (p.Arg397His) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 21, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002239342.13

Allele description [Variation Report for NM_000142.5(FGFR3):c.1190G>A (p.Arg397His)]

NM_000142.5(FGFR3):c.1190G>A (p.Arg397His)

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.1190G>A (p.Arg397His)

HGVS:

NC_000004.12:g.1804444G>A
NG_012632.1:g.16133G>A
NM_000142.5:c.1190G>AMANE SELECT
NM_001163213.2:c.1196G>A
NM_001354809.2:c.1190G>A
NM_001354810.2:c.1190G>A
NM_022965.4:c.931-380G>A
NP_000133.1:p.Arg397His
NP_000133.1:p.Arg397His
NP_001156685.1:p.Arg399His
NP_001341738.1:p.Arg397His
NP_001341739.1:p.Arg397His
LRG_1021t1:c.1190G>A
LRG_1021:g.16133G>A
LRG_1021p1:p.Arg397His
NC_000004.11:g.1806171G>A
NC_000004.11:g.1806171G>A
NM_000142.4:c.1190G>A
NR_148971.2:n.1616G>A

Protein change:

R397H

Links:

dbSNP: rs542210035

NCBI 1000 Genomes Browser:

rs542210035

Molecular consequence:

NM_022965.4:c.931-380G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000142.5:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001163213.2:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354809.2:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354810.2:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_148971.2:n.1616G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001206799	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 30, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003919496	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001206799

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 30, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003919496

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 21, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001206799.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV003919496.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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