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NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) AND Rett syndrome, congenital variant

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000989199.1

Allele description [Variation Report for NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)]

NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)

Gene:
FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)
Other names:
NM_005249.5(FOXG1):c.688C>T; p.Arg230Cys
HGVS:
  • NC_000014.9:g.28767967C>T
  • NG_009367.1:g.5887C>T
  • NM_005249.5:c.688C>TMANE SELECT
  • NP_005240.3:p.Arg230Cys
  • NC_000014.8:g.29237173C>T
Protein change:
R230C
Links:
dbSNP: rs1594383704
NCBI 1000 Genomes Browser:
rs1594383704
Molecular consequence:
  • NM_005249.5:c.688C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rett syndrome, congenital variant
Identifiers:
MedGen: C3150705; Orphanet: 3095; OMIM: 613454

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001139427Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001139427.1

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

Last Updated: Feb 16, 2025