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NM_005249.5(FOXG1):c.432G>C (p.Glu144Asp) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 15, 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:
RCV002317096.9

Allele description [Variation Report for NM_005249.5(FOXG1):c.432G>C (p.Glu144Asp)]

NM_005249.5(FOXG1):c.432G>C (p.Glu144Asp)

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.432G>C (p.Glu144Asp)
Other names:
p.E144D:GAG>GAC
HGVS:
  • NC_000014.9:g.28767711G>C
  • NG_009367.1:g.5631G>C
  • NM_005249.5:c.432G>CMANE SELECT
  • NP_005240.3:p.Glu144Asp
  • NC_000014.8:g.29236917G>C
  • NM_005249.3:c.432G>C
  • NM_005249.4:c.432G>C
Protein change:
E144D
Links:
dbSNP: rs547825816
NCBI 1000 Genomes Browser:
rs547825816
Molecular consequence:
  • NM_005249.5:c.432G>C - 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
SCV000850410Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 15, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000850410.5

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024