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NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 16, 2022
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:
RCV001771209.3

Allele description [Variation Report for NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys)]

NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys)

Gene:
GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.1
Genomic location:
Preferred name:
NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys)
HGVS:
  • NC_000007.14:g.41978721C>T
  • NG_008434.1:g.263299G>A
  • NM_000168.6:c.1525G>AMANE SELECT
  • NP_000159.3:p.Glu509Lys
  • NC_000007.13:g.42018320C>T
  • NM_000168.5:c.1525G>A
Protein change:
E509K
Links:
dbSNP: rs761808583
NCBI 1000 Genomes Browser:
rs761808583
Molecular consequence:
  • NM_000168.6:c.1525G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002001548GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 16, 2022) 		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, SCV002001548.3

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: May 1, 2024