NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: May 18, 2012
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:: RCV000170066.5

Allele description [Variation Report for NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup)]

NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup)

Gene:

FOXG1:forkhead box G1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup)

Other names:

NM_005249.5(FOXG1):c.141CCA[8]; p.His57dup

HGVS:

NC_000014.9:g.28767420CCA[8]
NG_009367.1:g.5340CCA[8]
NM_005249.5:c.141CCA[8]MANE SELECT
NP_005240.3:p.His57dup
NC_000014.8:g.29236623_29236624insCAC
NC_000014.8:g.29236626CCA[8]
NM_005249.3:c.159_161dup
NM_005249.3:c.159_161dupCCA
NM_005249.4:c.159_161dup
NM_005249.4:c.159_161dupCCA
p.H57dup

Links:

dbSNP: rs587783630

NCBI 1000 Genomes Browser:

rs587783630

Molecular consequence:

NM_005249.5:c.141CCA[8] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222375	RettBASE	no assertion criteria provided	Benign (May 18, 2012)	paternal, germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222375

RettBASE

no assertion criteria provided

Benign
(May 18, 2012)

paternal, germline

curation

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	not provided	1	not provided	not provided	1	No	curation
not provided	germline	not provided	1	not provided	not provided	1	No	curation

Citations

PubMed

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.

Van der Aa N, Van den Bergh M, Ponomarenko N, Verstraete L, Ceulemans B, Storm K.

Mol Syndromol. 2011 Sep;1(6):290-293. Epub 2011 Aug 9.

PubMed [citation]

PMID:: 22190898
PMCID:: PMC3214958

Details of each submission

From RettBASE, SCV000222375.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	No	curation	PubMed (1)
2	not provided	1	not provided	No	curation	PubMed (1)

Description

"Not Rett synd. - early-onset encephalopathy"

PubMed [ID: 22190898]

"Not Rett synd. - unaffected family member"

PubMed [ID: 22190898]

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	not provided	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	not provided	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 25, 2025

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