NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr) AND Microform holoprosencephaly

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 13, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000223717.2

Allele description [Variation Report for NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr)]

NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr)

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.4710G>C (p.Ter1570Tyr)

Other names:

*1587Y; *1570Y; *1445Y

HGVS:

NC_000002.12:g.120990675G>C
NG_009030.1:g.198385G>C
NM_001371271.1:c.4761G>C
NM_001374353.1:c.4710G>CMANE SELECT
NM_001374354.1:c.4335G>C
NM_005270.5:c.4761G>C
NP_001358200.1:p.Ter1587Tyr
NP_001361282.1:p.Ter1570Tyr
NP_001361283.1:p.Ter1445Tyr
NP_005261.2:p.Ter1587Tyr
NP_005261.2:p.Ter1587Tyr
NC_000002.11:g.121748251G>C
NM_005270.4:c.4761G>C

Links:

dbSNP: rs876661327

NCBI 1000 Genomes Browser:

rs876661327

Molecular consequence:

NM_001371271.1:c.4761G>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001374353.1:c.4710G>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001374354.1:c.4335G>C - stop lost - [Sequence Ontology: SO:0001578]
NM_005270.5:c.4761G>C - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:: Microform holoprosencephaly
Identifiers:: MONDO: MONDO:0017219; MedGen: C5393309

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268722	Laboratory of Molecular Genetics, CHU Rennes	no assertion criteria provided	Likely pathogenic (Apr 13, 2016)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268722

Laboratory of Molecular Genetics, CHU Rennes

no assertion criteria provided

Likely pathogenic
(Apr 13, 2016)

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory of Molecular Genetics, CHU Rennes, SCV000268722.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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