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NM_016169.4(SUFU):c.68C>T (p.Pro23Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 13, 2023
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:
RCV002377432.2

Allele description [Variation Report for NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)]

NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)

Genes:
LOC130004614:ATAC-STARR-seq lymphoblastoid silent region 2764 [Gene]
SUFU:SUFU negative regulator of hedgehog signaling [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)
HGVS:
  • NC_000010.11:g.102504220C>T
  • NG_011901.1:g.3536G>A
  • NG_021338.1:g.5259C>T
  • NM_001178133.2:c.68C>T
  • NM_016169.4:c.68C>TMANE SELECT
  • NP_001171604.1:p.Pro23Leu
  • NP_057253.2:p.Pro23Leu
  • LRG_521t1:c.68C>T
  • LRG_521:g.5259C>T
  • NC_000010.10:g.104263977C>T
  • NM_016169.3:c.68C>T
Protein change:
P23L
Links:
dbSNP: rs2062290972
NCBI 1000 Genomes Browser:
rs2062290972
Molecular consequence:
  • NM_001178133.2:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016169.4:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002667500Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 13, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002667500.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024