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

Clinical significance:Likely pathogenic (Last evaluated: Apr 13, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000223865.2

Allele description [Variation Report for NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys)]

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

Gene:
FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.23
Genomic location:
Preferred name:
NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys)
HGVS:
  • NC_000008.11:g.38414264C>T
  • NG_007729.1:g.59571G>A
  • NM_001174063.2:c.2068G>A
  • NM_001174064.2:c.2044G>A
  • NM_001174065.2:c.2068G>A
  • NM_001174066.2:c.1807G>A
  • NM_001174067.1:c.2167G>A
  • NM_001354367.1:c.2068G>A
  • NM_001354368.2:c.1795G>A
  • NM_001354369.1:c.2062G>A
  • NM_001354370.1:c.1801G>A
  • NM_015850.4:c.2068G>A
  • NM_023105.3:c.1807G>A
  • NM_023106.3:c.1801G>A
  • NM_023110.2:c.2074G>A
  • NP_001167534.1:p.Glu690Lys
  • NP_001167535.1:p.Glu682Lys
  • NP_001167536.1:p.Glu690Lys
  • NP_001167537.1:p.Glu603Lys
  • NP_001167538.1:p.Glu723Lys
  • NP_001341296.1:p.Glu690Lys
  • NP_001341297.1:p.Glu599Lys
  • NP_001341298.1:p.Glu688Lys
  • NP_001341299.1:p.Glu601Lys
  • NP_056934.2:p.Glu690Lys
  • NP_075593.1:p.Glu603Lys
  • NP_075594.1:p.Glu601Lys
  • NP_075598.2:p.Glu692Lys
  • LRG_993t1:c.2074G>A
  • LRG_993:g.59571G>A
  • LRG_993p1:p.Glu692Lys
  • NC_000008.10:g.38271782C>T
Protein change:
E599K
Links:
dbSNP: rs876661335
NCBI 1000 Genomes Browser:
rs876661335
Molecular consequence:
  • NM_001174063.2:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.1:c.2167G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354370.1:c.1801G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.1801G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.2:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Holoprosencephaly sequence (HPE)
Synonyms:
ARHINENCEPHALY; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016296; MedGen: C0079541; Orphanet: 2162; OMIM: PS236100; Human Phenotype Ontology: HP:0001360

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268732Laboratory of Molecular Genetics,CHU Rennesno assertion criteria providedLikely pathogenic
(Apr 13, 2016)
maternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Molecular Genetics,CHU Rennes, SCV000268732.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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