NM_023110.3(FGFR1):c.2153G>A (p.Arg718His) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Aug 1, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV001756642.18

Allele description [Variation Report for NM_023110.3(FGFR1):c.2153G>A (p.Arg718His)]

NM_023110.3(FGFR1):c.2153G>A (p.Arg718His)

Gene:

FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.23

Genomic location:

Preferred name:

NM_023110.3(FGFR1):c.2153G>A (p.Arg718His)

HGVS:

NC_000008.11:g.38414185C>T
NG_007729.1:g.59650G>A
NM_001174063.2:c.2147G>A
NM_001174064.2:c.2123G>A
NM_001174065.2:c.2147G>A
NM_001174066.2:c.1886G>A
NM_001174067.2:c.2246G>A
NM_001354367.2:c.2147G>A
NM_001354368.2:c.1874G>A
NM_001354369.2:c.2141G>A
NM_001354370.2:c.1880G>A
NM_015850.4:c.2147G>A
NM_023105.3:c.1886G>A
NM_023106.3:c.1880G>A
NM_023110.3:c.2153G>AMANE SELECT
NP_001167534.1:p.Arg716His
NP_001167535.1:p.Arg708His
NP_001167536.1:p.Arg716His
NP_001167537.1:p.Arg629His
NP_001167538.1:p.Arg749His
NP_001341296.1:p.Arg716His
NP_001341297.1:p.Arg625His
NP_001341298.1:p.Arg714His
NP_001341299.1:p.Arg627His
NP_056934.2:p.Arg716His
NP_075593.1:p.Arg629His
NP_075594.1:p.Arg627His
NP_075598.2:p.Arg718His
LRG_993t1:c.2153G>A
LRG_993:g.59650G>A
NC_000008.10:g.38271703C>T
NM_023110.2:c.2153G>A

Protein change:

R625H

Links:

dbSNP: rs1415925468

NCBI 1000 Genomes Browser:

rs1415925468

Molecular consequence:

NM_001174063.2:c.2147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001174064.2:c.2123G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001174065.2:c.2147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001174066.2:c.1886G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001174067.2:c.2246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354367.2:c.2147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354368.2:c.1874G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354369.2:c.2141G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354370.2:c.1880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015850.4:c.2147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_023105.3:c.1886G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_023106.3:c.1880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_023110.3:c.2153G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001986178	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 11, 2020)	germline	clinical testing	Citation Link,
SCV002586223	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Aug 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001986178

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 11, 2020)

germline

clinical testing

Citation Link,

SCV002586223

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Aug 1, 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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001986178.2

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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

From CeGaT Center for Human Genetics Tuebingen, SCV002586223.15

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

Description

FGFR1: PM1, PM2, PM5, PP3, PP4

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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