NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) AND Greig cephalopolysyndactyly syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 14, 2019
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:: RCV001849447.1

Allele description [Variation Report for NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)]

NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)

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.539G>A (p.Arg180Gln)

HGVS:

NC_000007.14:g.42048631C>T
NG_008434.1:g.193389G>A
NM_000168.6:c.539G>AMANE SELECT
NP_000159.3:p.Arg180Gln
NC_000007.13:g.42088230C>T
NM_000168.5:c.539G>A

Protein change:

R180Q

Links:

dbSNP: rs140772904

NCBI 1000 Genomes Browser:

rs140772904

Molecular consequence:

NM_000168.6:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Mus musculus ribosomal protein lateral stalk subunit P2 (Rplp2), transcript vari...
Mus musculus ribosomal protein lateral stalk subunit P2 (Rplp2), transcript variant 2, mRNA
gi|1341118722|ref|NM_001360657.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106593	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (Feb 14, 2019)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106593

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Likely pathogenic
(Feb 14, 2019)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Monogenic causes of chronic kidney disease in adults.

Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy A, Benson K, et al.

Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14.

PubMed [citation]

PMID:: 30773290
PMCID:: PMC6431580

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106593.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Nov 3, 2024

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