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NM_005249.5(FOXG1):c.1456C>T (p.Pro486Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2018
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:
RCV002394717.2

Allele description [Variation Report for NM_005249.5(FOXG1):c.1456C>T (p.Pro486Ser)]

NM_005249.5(FOXG1):c.1456C>T (p.Pro486Ser)

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.1456C>T (p.Pro486Ser)
HGVS:
  • NC_000014.9:g.28768735C>T
  • NG_009367.1:g.6655C>T
  • NM_005249.5:c.1456C>TMANE SELECT
  • NP_005240.3:p.Pro486Ser
  • NC_000014.8:g.29237941C>T
  • NM_005249.4:c.1456C>T
Protein change:
P486S
Molecular consequence:
  • NM_005249.5:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002695891Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 19, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

Alvarez-Mora MI, Calvo Escalona R, Puig Navarro O, Madrigal I, Quintela I, Amigo J, Martinez-Elurbe D, Linder-Lucht M, Aznar Lain G, Carracedo A, Mila M, Rodriguez-Revenga L.

Mutat Res. 2016 Feb-Mar;784-785:46-52. doi: 10.1016/j.mrfmmm.2015.12.006. Epub 2016 Jan 6.

PubMed [citation]
PMID:
26845707

Details of each submission

From Ambry Genetics, SCV002695891.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.P486S variant (also known as c.1456C>T), located in coding exon 1 of the FOXG1 gene, results from a C to T substitution at nucleotide position 1456. The proline at codon 486 is replaced by serine, an amino acid with similar properties. This alteration was detected in an individual who fulfilled DSM-5 criteria for autism spectrum disorder (ASD). Of note, the alteration was also detected in this individual's mother who had a broad autism phenotype (Alvarez-Mora MI et al. Mutat. Res. Jan;784-785:46-52). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024