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NM_000168.6(GLI3):c.3816_3817del (p.Cys1272fs) AND Polydactyly, postaxial, type A1

Germline classification:
Uncertain significance (1 submission)
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:
RCV004547353.1

Allele description [Variation Report for NM_000168.6(GLI3):c.3816_3817del (p.Cys1272fs)]

NM_000168.6(GLI3):c.3816_3817del (p.Cys1272fs)

Gene:
GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7p14.1
Genomic location:
Preferred name:
NM_000168.6(GLI3):c.3816_3817del (p.Cys1272fs)
HGVS:
  • NC_000007.14:g.41965256CA[1]
  • NG_008434.1:g.276762TG[1]
  • NG_008434.2:g.304009TG[1]
  • NM_000168.6:c.3816_3817delMANE SELECT
  • NP_000159.3:p.Cys1272fs
  • NC_000007.13:g.42004854CA[1]
Protein change:
C1272fs
Molecular consequence:
  • NM_000168.6:c.3816_3817del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Polydactyly, postaxial, type A1
Identifiers:
MONDO: MONDO:0008266; MedGen: C4282400; OMIM: 174200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005042876Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Neuberg Centre For Genomic Medicine, NCGM, SCV005042876.1

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

Description

The frameshift variant c.3816_3817delp.Cys1272TrpfsTer31 in GLI3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Cys1272TrpfsTer31 variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Cysteine 1272, changes this amino acid to Tryptophan residue, and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Cys1272TrpfsTer31. Loss of function variants have been previously reported to be disease causing. However since this variant is present in the last exon, functional studies will be required to prove protein truncation. Hence the variant is classified as Uncertain Significance VUS.

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

Last Updated: May 19, 2024