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NM_005249.5(FOXG1):c.256C>G (p.Gln86Glu) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 10, 2017
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:
RCV000436439.1

Allele description [Variation Report for NM_005249.5(FOXG1):c.256C>G (p.Gln86Glu)]

NM_005249.5(FOXG1):c.256C>G (p.Gln86Glu)

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.256C>G (p.Gln86Glu)
HGVS:
  • NC_000014.9:g.28767535C>G
  • NG_009367.1:g.5455C>G
  • NM_005249.5:c.256C>GMANE SELECT
  • NP_005240.3:p.Gln86Glu
  • NC_000014.8:g.29236741C>G
  • NM_005249.3:c.256C>G
Protein change:
Q86E
Links:
dbSNP: rs398124202
NCBI 1000 Genomes Browser:
rs398124202
Molecular consequence:
  • NM_005249.5:c.256C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000528968GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jan 10, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000528968.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024