U.S. flag

An official website of the United States government

NM_000168.6(GLI3):c.1991C>A (p.Ser664Ter) AND GLI3-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 15, 2024
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:
RCV004532025.2

Allele description [Variation Report for NM_000168.6(GLI3):c.1991C>A (p.Ser664Ter)]

NM_000168.6(GLI3):c.1991C>A (p.Ser664Ter)

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.1991C>A (p.Ser664Ter)
HGVS:
  • NC_000007.14:g.41972449G>T
  • NG_008434.1:g.269571C>A
  • NG_008434.2:g.296819C>A
  • NM_000168.6:c.1991C>AMANE SELECT
  • NP_000159.3:p.Ser664Ter
  • NC_000007.13:g.42012048G>T
  • NM_000168.5:c.1991C>A
Protein change:
S664*
Molecular consequence:
  • NM_000168.6:c.1991C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
GLI3-related disorder
Synonyms:
GLI3-Related Disorders; GLI3-related condition
Identifiers:
MedGen: CN239292

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004744418PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Jan 15, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004744418.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The GLI3 c.1991C>A variant is predicted to result in premature protein termination (p.Ser664*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in GLI3 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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

Last Updated: Nov 3, 2024