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NM_000168.6(GLI3):c.2632del (p.Glu878fs) AND Pallister-Hall syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 24, 2022
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:
RCV002286458.1

Allele description [Variation Report for NM_000168.6(GLI3):c.2632del (p.Glu878fs)]

NM_000168.6(GLI3):c.2632del (p.Glu878fs)

Gene:
GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p14.1
Genomic location:
Preferred name:
NM_000168.6(GLI3):c.2632del (p.Glu878fs)
HGVS:
  • NC_000007.14:g.41966441del
  • NG_008434.1:g.275580del
  • NG_008434.2:g.302827del
  • NM_000168.6:c.2632delMANE SELECT
  • NP_000159.3:p.Glu878fs
  • NC_000007.13:g.42006039del
  • NM_000168.6:c.2632delGMANE SELECT
Protein change:
E878fs
Molecular consequence:
  • NM_000168.6:c.2632del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Pallister-Hall syndrome (PHS)
Synonyms:
Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
Identifiers:
MONDO: MONDO:0007804; MedGen: C0265220; Orphanet: 672; OMIM: 146510

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002576309Gemeinschaftspraxis fuer Humangenetik Dresden
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 24, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Gemeinschaftspraxis fuer Humangenetik Dresden, SCV002576309.1

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

Description

This variant is not reported in HGMD 2022.2, gnomAD (v2.1.1), dbSNP (v154) or LOVD. Mutations in GLI3 are known to be causal for Greig cephalopolysyndactyly syndrome (OMIM 175700), Pallister-Hall syndrome (OMIM 146510) and Polydactyly (OMIM 174200, 174700). Due to the protein truncating character the variant is classified as pathogenic.

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

Last Updated: Oct 8, 2022