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NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro) AND Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 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:
RCV000510676.1

Allele description [Variation Report for NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro)]

NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro)

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.1375G>C (p.Ala459Pro)
HGVS:
  • NC_000002.12:g.120978491G>C
  • NG_009030.1:g.186201G>C
  • NM_001371271.1:c.1426G>C
  • NM_001374353.1:c.1375G>CMANE SELECT
  • NM_001374354.1:c.1000G>C
  • NM_005270.5:c.1426G>C
  • NP_001358200.1:p.Ala476Pro
  • NP_001361282.1:p.Ala459Pro
  • NP_001361283.1:p.Ala334Pro
  • NP_005261.2:p.Ala476Pro
  • NC_000002.11:g.121736067G>C
Protein change:
A334P
Links:
dbSNP: rs772017351
NCBI 1000 Genomes Browser:
rs772017351
Molecular consequence:
  • NM_001371271.1:c.1426G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374353.1:c.1375G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374354.1:c.1000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005270.5:c.1426G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Synonyms:
Culler-Jones syndrome
Identifiers:
MONDO: MONDO:0014369; MedGen: C4014479; Orphanet: 420584; OMIM: 615849

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607736Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 16, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital, SCV000607736.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The patient presented with cryptorchidism, hypospadias, and gonadal dysgenesis

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022