NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Oct 16, 2023
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:: RCV000224227.21

Allele description [Variation Report for NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)]

NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)

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.2314C>T (p.Pro772Ser)

Other names:

NM_001174063.1(FGFR1):c.2308C>T(p.Pro770Ser); NM_001174064.1(FGFR1):c.2284C>T(p.Pro762Ser); NM_001174065.1(FGFR1):c.2308C>T(p.Pro770Ser); NM_001174066.1(FGFR1):c.2047C>T(p.Pro683Ser); NM_001174067.1(FGFR1):c.2407C>T(p.Pro803Ser); NM_015850.3(FGFR1):c.2308C>T(p.Pro770Ser); NM_023105.2(FGFR1):c.2047C>T(p.Pro683Ser); NM_023106.2(FGFR1):c.2041C>T(p.Pro681Ser); NM_023110.2(FGFR1):c.2314C>T(p.Pro772Ser)

HGVS:

NC_000008.11:g.38413783G>A
NG_007729.1:g.60052C>T
NM_001174063.2:c.2308C>T
NM_001174064.2:c.2284C>T
NM_001174065.2:c.2308C>T
NM_001174066.2:c.2047C>T
NM_001174067.2:c.2407C>T
NM_001354367.2:c.2286+135C>T
NM_001354368.2:c.2035C>T
NM_001354369.2:c.2280+135C>T
NM_001354370.2:c.2019+135C>T
NM_015850.4:c.2308C>T
NM_023105.3:c.2047C>T
NM_023106.3:c.2041C>T
NM_023110.3:c.2314C>TMANE SELECT
NP_001167534.1:p.Pro770Ser
NP_001167535.1:p.Pro762Ser
NP_001167536.1:p.Pro770Ser
NP_001167537.1:p.Pro683Ser
NP_001167538.1:p.Pro803Ser
NP_001341297.1:p.Pro679Ser
NP_056934.2:p.Pro770Ser
NP_075593.1:p.Pro683Ser
NP_075594.1:p.Pro681Ser
NP_075598.2:p.Pro772Ser
NP_075598.2:p.Pro772Ser
LRG_993t1:c.2314C>T
LRG_993:g.60052C>T
LRG_993p1:p.Pro772Ser
NC_000008.10:g.38271301G>A
NM_023110.2:c.2314C>T
P11362:p.Pro772Ser

Protein change:

P679S

Links:

UniProtKB: P11362#VAR_017892; dbSNP: rs56234888

NCBI 1000 Genomes Browser:

rs56234888

Molecular consequence:

NM_001354367.2:c.2286+135C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001354369.2:c.2280+135C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001354370.2:c.2019+135C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001174063.2:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001174064.2:c.2284C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001174065.2:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001174066.2:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001174067.2:c.2407C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354368.2:c.2035C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_015850.4:c.2308C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_023105.3:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_023106.3:c.2041C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_023110.3:c.2314C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000281459	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 25, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001158862	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Oct 16, 2023)	germline	clinical testing	Citation Link,
SCV005223408	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000281459

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Apr 25, 2016)

germline

clinical testing

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

SCV001158862

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Oct 16, 2023)

germline

clinical testing

Citation Link,

SCV005223408

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

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	yes	not provided	not provided	not provided	not provided	not provided	not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000281459.1

#	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	not provided	not provided	not provided	not provided		not provided	0.002041	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158862.5

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

#	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 Breakthrough Genomics, Breakthrough Genomics, SCV005223408.1

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

#	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: Nov 10, 2024

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