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NM_000168.6(GLI3):c.2059del (p.Glu687fs) AND Polydactyly, postaxial, type A1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2021
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:
RCV001450030.2

Allele description [Variation Report for NM_000168.6(GLI3):c.2059del (p.Glu687fs)]

NM_000168.6(GLI3):c.2059del (p.Glu687fs)

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.2059del (p.Glu687fs)
HGVS:
  • NC_000007.14:g.41972383del
  • NG_008434.1:g.269639del
  • NM_000168.6:c.2059delMANE SELECT
  • NP_000159.3:p.Glu687fs
  • NC_000007.13:g.42011982del
Protein change:
E687fs
Links:
dbSNP: rs2128709905
NCBI 1000 Genomes Browser:
rs2128709905
Molecular consequence:
  • NM_000168.6:c.2059del - 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
SCV001653579Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 1, 2021) 		germlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providednot provided

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 Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV001653579.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1Bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024