VCV000132648.1 - ClinVar

NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)

Variation ID: 132648 Accession: VCV000132648.1

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 8p11.23 8: 38414254 (GRCh38) [ NCBI UCSC ] 8: 38271772 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jun 3, 2014	Jun 3, 2014	Oct 24, 2013

HGVS

Nucleotide	Protein	Molecular consequence
NM_023110.3:c.2084C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_075598.2:p.Thr695Ile	missense
NM_001174063.2:c.2078C>T	NP_001167534.1:p.Thr693Ile	missense
NM_001174064.2:c.2054C>T	NP_001167535.1:p.Thr685Ile	missense
NM_001174065.2:c.2078C>T	NP_001167536.1:p.Thr693Ile	missense
NM_001174066.2:c.1817C>T	NP_001167537.1:p.Thr606Ile	missense
NM_001174067.2:c.2177C>T	NP_001167538.1:p.Thr726Ile	missense
NM_001354367.2:c.2078C>T	NP_001341296.1:p.Thr693Ile	missense
NM_001354368.2:c.1805C>T	NP_001341297.1:p.Thr602Ile	missense
NM_001354369.2:c.2072C>T	NP_001341298.1:p.Thr691Ile	missense
NM_001354370.2:c.1811C>T	NP_001341299.1:p.Thr604Ile	missense
NM_015850.4:c.2078C>T	NP_056934.2:p.Thr693Ile	missense
NM_023105.3:c.1817C>T	NP_075593.1:p.Thr606Ile	missense
NM_023106.3:c.1811C>T	NP_075594.1:p.Thr604Ile	missense
NC_000008.11:g.38414254G>A
NC_000008.10:g.38271772G>A
NG_007729.1:g.59581C>T
LRG_993:g.59581C>T

... more HGVS ... less HGVS

Protein change

T695I, T602I, T685I, T606I, T691I, T693I, T726I, T604I

Other names

Canonical SPDI

NC_000008.11:38414253:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA269809 dbSNP: rs515726225 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
FGFR1		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	995	1125

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Hypogonadotropic hypogonadism 2 with or without anosmia	Pathogenic (1)	no assertion criteria provided	Oct 24, 2013	RCV000119060.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Oct 24, 2013)	no assertion criteria provided Method: research	Isolated hypogonadotropic hypogonadism (Autosomal dominant inheritance) Affected status: yes Allele origin: germline	Endocrinology Clinic, Seth G.S. Medical College Accession: SCV000153779.1 First in ClinVar: Jun 03, 2014 Last updated: Jun 03, 2014	Publications: PubMed (1) PubMed: 24204987 Number of individuals with the variant: 1 Clinical Features: Hyposmia (present) Sex: mixed Ethnicity/Population group: Asian Tissue: Blood Method: Mutation was verfied bidirectionally on gDNA

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.	Vizeneux A	PloS one	2013	PMID: 24204987

Text-mined citations for rs515726225 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 25, 2022

ClinVar Genomic variation as it relates to human health

NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs515726225 ...