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NM_001374353.1(GLI2):c.1467G>A (p.Thr489=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 21, 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:
RCV000616815.1

Allele description [Variation Report for NM_001374353.1(GLI2):c.1467G>A (p.Thr489=)]

NM_001374353.1(GLI2):c.1467G>A (p.Thr489=)

Gene:
GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q14.2
Genomic location:
Preferred name:
NM_001374353.1(GLI2):c.1467G>A (p.Thr489=)
HGVS:
  • NC_000002.12:g.120978583G>A
  • NG_009030.1:g.186293G>A
  • NM_001371271.1:c.1518G>A
  • NM_001374353.1:c.1467G>AMANE SELECT
  • NM_001374354.1:c.1092G>A
  • NM_005270.5:c.1518G>A
  • NP_001358200.1:p.Thr506=
  • NP_001361282.1:p.Thr489=
  • NP_001361283.1:p.Thr364=
  • NP_005261.2:p.Thr506=
  • NP_005261.2:p.Thr506=
  • NC_000002.11:g.121736159G>A
  • NM_005270.4:c.1518G>A
Links:
dbSNP: rs1016718367
NCBI 1000 Genomes Browser:
rs1016718367
Molecular consequence:
  • NM_001371271.1:c.1518G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374353.1:c.1467G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374354.1:c.1092G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005270.5:c.1518G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000718398GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Apr 21, 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, SCV000718398.1

#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: Apr 23, 2022