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NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu) AND Greig cephalopolysyndactyly syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV001255861.1

Allele description [Variation Report for NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu)]

NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu)

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.1862C>T (p.Pro621Leu)
HGVS:
  • NC_000007.14:g.41972578G>A
  • NG_008434.1:g.269442C>T
  • NM_000168.6:c.1862C>TMANE SELECT
  • NP_000159.3:p.Pro621Leu
  • NC_000007.13:g.42012177G>A
Protein change:
P621L
Links:
dbSNP: rs1787394130
NCBI 1000 Genomes Browser:
rs1787394130
Molecular consequence:
  • NM_000168.6:c.1862C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
mutation affecting coding sequence [Sequence Ontology: SO:1000054]

Condition(s)

Name:
Greig cephalopolysyndactyly syndrome (GCPS)
Synonyms:
Greig syndrome; Polysyndactyly with peculiar skull shape
Identifiers:
MONDO: MONDO:0008287; MedGen: C0265306; Orphanet: 380; OMIM: 175700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432220Ali Lab, Centre for Genetic Disorders, Banaras Hindu University
no assertion criteria provided
Pathogenicde novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiande novoyes11not providednot providednot providedresearch

Details of each submission

From Ali Lab, Centre for Genetic Disorders, Banaras Hindu University, SCV001432220.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022