NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) AND Rett syndrome, congenital variant

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jan 25, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000408882.21

Allele description [Variation Report for NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)]

NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)

Other names:

NM_005249.5(FOXG1):c.219GCC[7]; p.Pro80dup

HGVS:

NC_000014.9:g.28767498GCC[7]
NG_009367.1:g.5418GCC[7]
NM_005249.5:c.219GCC[7]MANE SELECT
NP_005240.3:p.Pro80dup
NC_000014.8:g.29236703_29236704insGCC
NC_000014.8:g.29236704GCC[7]
NM_005249.3:c.234_236dup
NM_005249.3:c.234_236dupGCC
NM_005249.4:c.234_236dup
NM_005249.4:c.234_236dupGCC
p.P80dup
p.[Pro80dup]

Links:

dbSNP: rs786200975

NCBI 1000 Genomes Browser:

rs786200975

Molecular consequence:

NM_005249.5:c.219GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

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

Recent activity

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MEI2-like 2 [Arabidopsis thaliana]
MEI2-like 2 [Arabidopsis thaliana]
gi|18406092|ref|NP_565990.1|

Protein
Giardia intestinalis isolate GDH22 glutamate dehydrogenase gene, partial cds
Giardia intestinalis isolate GDH22 glutamate dehydrogenase gene, partial cds
gi|1938232747|gb|MT584188.1|

Nucleotide
ART1 [Strigops habroptila]
ART1 [Strigops habroptila]
Gene ID:115602253

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000484840	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Likely benign (Nov 3, 2016)	germline	clinical testing	DGD_Variant_Analysis_Guidelines.docx, Citation Link,
SCV000650046	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 25, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000484840

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Likely benign
(Nov 3, 2016)

germline

clinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV000650046

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 25, 2024)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000484840.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		2	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000650046.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Oct 26, 2024

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