NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) AND Hypogonadotropic hypogonadism 2 with or without anosmia

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001161358.4

Allele description [Variation Report for NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)]

NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)

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.2024G>C (p.Arg675Pro)

HGVS:

NC_000008.11:g.38414583C>G
NG_007729.1:g.59252G>C
NM_001174063.2:c.2018G>C
NM_001174064.2:c.1994G>C
NM_001174065.2:c.2018G>C
NM_001174066.2:c.1757G>C
NM_001174067.2:c.2117G>C
NM_001354367.2:c.2018G>C
NM_001354368.2:c.1745G>C
NM_001354369.2:c.2012G>C
NM_001354370.2:c.1751G>C
NM_015850.4:c.2018G>C
NM_023105.3:c.1757G>C
NM_023106.3:c.1751G>C
NM_023110.3:c.2024G>CMANE SELECT
NP_001167534.1:p.Arg673Pro
NP_001167535.1:p.Arg665Pro
NP_001167536.1:p.Arg673Pro
NP_001167537.1:p.Arg586Pro
NP_001167538.1:p.Arg706Pro
NP_001341296.1:p.Arg673Pro
NP_001341297.1:p.Arg582Pro
NP_001341298.1:p.Arg671Pro
NP_001341299.1:p.Arg584Pro
NP_056934.2:p.Arg673Pro
NP_075593.1:p.Arg586Pro
NP_075594.1:p.Arg584Pro
NP_075598.2:p.Arg675Pro
LRG_993t1:c.2024G>C
LRG_993:g.59252G>C
NC_000008.10:g.38272101C>G
NC_000008.10:g.38272101C>G
NM_023110.2:c.2024G>C

Protein change:

R582P

Links:

dbSNP: rs771078736

NCBI 1000 Genomes Browser:

rs771078736

Molecular consequence:

NM_001174063.2:c.2018G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001174064.2:c.1994G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001174065.2:c.2018G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001174066.2:c.1757G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001174067.2:c.2117G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354367.2:c.2018G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354368.2:c.1745G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354369.2:c.2012G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354370.2:c.1751G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015850.4:c.2018G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_023105.3:c.1757G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_023106.3:c.1751G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_023110.3:c.2024G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Synonyms:: Kallmann syndrome 2; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007844; MedGen: C1563720; Orphanet: 478; OMIM: 147950

Recent activity

Clear Turn Off Turn On

TPA_asm: Bos taurus breed Hereford chromosome 4 7180002003356, whole genome shot...
TPA_asm: Bos taurus breed Hereford chromosome 4 7180002003356, whole genome shotgun sequence
gi|256340145|tpg|DAAA02012025.1||gn :DAAA02|7180002003356

Nucleotide

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
SCV001323224	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001323224

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001323224.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine