NM_001048174.2(MUTYH):c.493-20G>C AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 24, 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:: RCV001176697.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.493-20G>C]

NM_001048174.2(MUTYH):c.493-20G>C

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.493-20G>C

HGVS:

NC_000001.11:g.45332707C>G
NG_008189.1:g.12764G>C
NM_001048171.2:c.493-20G>C
NM_001048172.2:c.496-20G>C
NM_001048173.2:c.493-20G>C
NM_001048174.2:c.493-20G>CMANE SELECT
NM_001128425.2:c.577-20G>C
NM_001293190.2:c.538-20G>C
NM_001293191.2:c.526-20G>C
NM_001293192.2:c.217-20G>C
NM_001293195.2:c.493-20G>C
NM_001293196.2:c.217-20G>C
NM_001350650.2:c.148-20G>C
NM_001350651.2:c.148-20G>C
NM_012222.3:c.568-20G>C
LRG_220t1:c.577-20G>C
LRG_220:g.12764G>C
NC_000001.10:g.45798379C>G
NM_001128425.1:c.577-20G>C

Links:

dbSNP: rs1645163445

NCBI 1000 Genomes Browser:

rs1645163445

Molecular consequence:

NM_001048171.2:c.493-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001048172.2:c.496-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001048173.2:c.493-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001048174.2:c.493-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001128425.2:c.577-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001293190.2:c.538-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001293191.2:c.526-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001293192.2:c.217-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001293195.2:c.493-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001293196.2:c.217-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001350650.2:c.148-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001350651.2:c.148-20G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_012222.3:c.568-20G>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001340740	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 24, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001340740

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 24, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001340740.2

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

Description

This variant causes a G>C nucleotide substitution at the -20 position of intron 7 of the MUTYH RNA. Splice site prediction tools suggest that this variant may create a new splice acceptor site; however, this prediction has not been investigated in published functional studies. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Dec 24, 2023

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