NM_000142.5(FGFR3):c.40G>A (p.Val14Met) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003032855.2

Allele description

NM_000142.5(FGFR3):c.40G>A (p.Val14Met)

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.40G>A (p.Val14Met)

HGVS:

NC_000004.12:g.1793974G>A
NG_012632.1:g.5663G>A
NM_000142.5:c.40G>AMANE SELECT
NM_001163213.2:c.40G>A
NM_001354809.2:c.40G>A
NM_001354810.2:c.40G>A
NM_022965.4:c.40G>A
NP_000133.1:p.Val14Met
NP_000133.1:p.Val14Met
NP_001156685.1:p.Val14Met
NP_001156685.1:p.Val14Met
NP_001341738.1:p.Val14Met
NP_001341739.1:p.Val14Met
NP_075254.1:p.Val14Met
LRG_1021t1:c.40G>A
LRG_1021t2:c.40G>A
LRG_1021:g.5663G>A
LRG_1021p1:p.Val14Met
LRG_1021p2:p.Val14Met
NC_000004.11:g.1795701G>A
NM_000142.4:c.40G>A
NM_001163213.1:c.40G>A
NR_148971.2:n.315G>A

Protein change:

V14M

Molecular consequence:

NM_000142.5:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001163213.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354809.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354810.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022965.4:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_148971.2:n.315G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

St6galnac2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 [Rattus nor...
St6galnac2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 [Rattus norvegicus]
Gene ID:303692

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003332836	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 28, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003332836

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 28, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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 Invitae, SCV003332836.2

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

Description

This variant has not been reported in the literature in individuals affected with FGFR3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 14 of the FGFR3 protein (p.Val14Met). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine