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NM_005249.5(FOXG1):c.336_345del (p.Ala113fs) AND Rett syndrome, congenital variant

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001255735.2

Allele description [Variation Report for NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)]

NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)

Gene:
FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)
HGVS:
  • NC_000014.9:g.28767615_28767624del
  • NG_009367.1:g.5535_5544del
  • NM_005249.5:c.336_345delMANE SELECT
  • NP_005240.3:p.Ala113fs
  • NC_000014.8:g.29236821_29236830del
  • NM_005249.4:c.336_345del
Protein change:
A113fs
Links:
Molecular consequence:
  • NM_005249.5:c.336_345del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Rett syndrome, congenital variant
Identifiers:
MONDO: MONDO:0013270; MedGen: C3150705; Orphanet: 3095; OMIM: 613454

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432308Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001432308.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Jun 23, 2024