NM_016169.4(SUFU):c.224G>A (p.Arg75Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 30, 2018
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:: RCV001014927.2

Allele description [Variation Report for NM_016169.4(SUFU):c.224G>A (p.Arg75Lys)]

NM_016169.4(SUFU):c.224G>A (p.Arg75Lys)

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.224G>A (p.Arg75Lys)

HGVS:

NC_000010.11:g.102509210G>A
NG_021338.1:g.10249G>A
NM_001178133.2:c.224G>A
NM_016169.4:c.224G>AMANE SELECT
NP_001171604.1:p.Arg75Lys
NP_057253.2:p.Arg75Lys
LRG_521t1:c.224G>A
LRG_521:g.10249G>A
NC_000010.10:g.104268967G>A
NM_016169.3:c.224G>A

Protein change:

R75K

Links:

dbSNP: rs1290561880

NCBI 1000 Genomes Browser:

rs1290561880

Molecular consequence:

NM_001178133.2:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016169.4:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001175700	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Apr 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001175700

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Apr 30, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001175700.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The p.R75K variant (also known as c.224G>A), located in coding exon 2 of the SUFU gene, results from a G to A substitution at nucleotide position 224. The arginine at codon 75 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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