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NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) AND Hirschsprung disease, susceptibility to, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 18, 2016
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:
RCV000508658.2

Allele description [Variation Report for NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)]

NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)

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.2119C>T (p.Pro707Ser)
HGVS:
  • NC_000007.14:g.41967908G>A
  • NG_008434.1:g.274113C>T
  • NM_000168.6:c.2119C>TMANE SELECT
  • NP_000159.3:p.Pro707Ser
  • NC_000007.13:g.42007506G>A
  • NM_000168.5:c.2119C>T
  • P10071:p.Pro707Ser
Protein change:
P707S; PRO707SER
Links:
UniProtKB: P10071#VAR_010055; OMIM: 165240.0019; dbSNP: rs121917716
NCBI 1000 Genomes Browser:
rs121917716
Molecular consequence:
  • NM_000168.6:c.2119C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]
Observations:
1

Condition(s)

Name:
Hirschsprung disease, susceptibility to, 1
Synonyms:
Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:
MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000328910Clinical Genetics, Erasmus University Medical Center
no assertion criteria provided
Likely pathogenic
(Nov 18, 2016)
paternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics, Erasmus University Medical Center, SCV000328910.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024