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NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 25, 2016)
Last evaluated:
Apr 13, 2016
Accession:
VCV000235088.2
Variation ID:
235088
Description:
single nucleotide variant
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NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys)

Allele ID
236848
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.23
Genomic location
8: 38414264 (GRCh38) GRCh38 UCSC
8: 38271782 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_993:g.59571G>A
LRG_993t1:c.2074G>A LRG_993p1:p.Glu692Lys
NC_000008.10:g.38271782C>T
... more HGVS
Protein change
E692K, E682K, E690K, E601K, E723K, E599K, E603K, E688K
Other names
-
Canonical SPDI
NC_000008.11:38414263:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10581213
dbSNP: rs876661335
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Apr 13, 2016 RCV000223865.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGFR1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
442 494

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 13, 2016)
no assertion criteria provided
Method: clinical testing
holoprosencephaly
Allele origin: maternal
Laboratory of Molecular Genetics,CHU Rennes
Accession: SCV000268732.1
Submitted: (May 25, 2016)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs876661335...

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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 Sep 29, 2021