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NM_001374353.1(GLI2):c.4636A>G (p.Met1546Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 2023
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:
RCV003210689.2

Allele description [Variation Report for NM_001374353.1(GLI2):c.4636A>G (p.Met1546Val)]

NM_001374353.1(GLI2):c.4636A>G (p.Met1546Val)

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.4636A>G (p.Met1546Val)
HGVS:
  • NC_000002.12:g.120990601A>G
  • NG_009030.1:g.198311A>G
  • NG_009030.2:g.259735A>G
  • NM_001371271.1:c.4687A>G
  • NM_001374353.1:c.4636A>GMANE SELECT
  • NM_001374354.1:c.4261A>G
  • NM_005270.5:c.4687A>G
  • NP_001358200.1:p.Met1563Val
  • NP_001361282.1:p.Met1546Val
  • NP_001361283.1:p.Met1421Val
  • NP_005261.2:p.Met1563Val
  • NC_000002.11:g.121748177A>G
  • NM_005270.4:c.4687A>G
Protein change:
M1421V
Molecular consequence:
  • NM_001371271.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374353.1:c.4636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374354.1:c.4261A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005270.5:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003905424Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 17, 2023) 		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, SCV003905424.2

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

Description

The c.4687A>G (p.M1563V) alteration is located in exon 13 (coding exon 13) of the GLI2 gene. This alteration results from a A to G substitution at nucleotide position 4687, causing the methionine (M) at amino acid position 1563 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024