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NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del) AND Gorlin syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000988445.1

Allele description [Variation Report for NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del)]

NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del)

Genes:
LOC130004614:ATAC-STARR-seq lymphoblastoid silent region 2764 [Gene]
SUFU:SUFU negative regulator of hedgehog signaling [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del)
HGVS:
  • NC_000010.11:g.102504189_102504194del
  • NG_011901.1:g.3562_3567del
  • NG_021338.1:g.5228_5233del
  • NM_001178133.2:c.37_42del
  • NM_016169.4:c.37_42delMANE SELECT
  • NP_001171604.1:p.Thr13_Ala14del
  • NP_057253.2:p.Thr13_Ala14del
  • LRG_521:g.5228_5233del
  • NC_000010.10:g.104263946_104263951del
  • NC_000010.10:g.104263946_104263951delACCGCG
Links:
dbSNP: rs1589969829
NCBI 1000 Genomes Browser:
rs1589969829
Molecular consequence:
  • NM_001178133.2:c.37_42del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_016169.4:c.37_42del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Gorlin syndrome
Synonyms:
Basal cell nevus syndrome
Identifiers:
MONDO: MONDO:0007187; MedGen: C0004779; Orphanet: 377; OMIM: PS109400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001138163Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001138163.1

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

Last Updated: Sep 29, 2024