NM_001048174.2(MUTYH):c.-6-5T>G AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 2016
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:: RCV000481124.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.-6-5T>G]

NM_001048174.2(MUTYH):c.-6-5T>G

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.-6-5T>G

HGVS:

NC_000001.11:g.45334516A>C
NG_008189.1:g.10955T>G
NM_001048171.2:c.-6-5T>G
NM_001048172.2:c.-6-5T>G
NM_001048173.2:c.-6-5T>G
NM_001048174.2:c.-6-5T>GMANE SELECT
NM_001128425.2:c.37-5T>G
NM_001293190.2:c.37-5T>G
NM_001293191.2:c.-6-5T>G
NM_001293192.2:c.-218-5T>G
NM_001293195.2:c.-6-5T>G
NM_001293196.2:c.-218-5T>G
NM_001350650.2:c.-277-5T>G
NM_001350651.2:c.-213-5T>G
NM_012222.3:c.37-5T>G
LRG_220t1:c.37-5T>G
LRG_220:g.10955T>G
NC_000001.10:g.45800188A>C
NM_001128425.1:c.37-5T>G

Links:

dbSNP: rs876660715

NCBI 1000 Genomes Browser:

rs876660715

Molecular consequence:

NM_001048171.2:c.-6-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001048172.2:c.-6-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001048173.2:c.-6-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001048174.2:c.-6-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001128425.2:c.37-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293190.2:c.37-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293191.2:c.-6-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293192.2:c.-218-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293195.2:c.-6-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293196.2:c.-218-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001350650.2:c.-277-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001350651.2:c.-213-5T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_012222.3:c.37-5T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Burkholderia sp. BL25-ind1-R3 NodA (nodA) gene, partial cds
Burkholderia sp. BL25-ind1-R3 NodA (nodA) gene, partial cds
gi|701667220|gb|KM188394.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567285	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 28, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567285

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 28, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000567285.3

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

Description

This variant is denoted MUTYH c.37-5T>G or IVS1-5T>G and consists of a T>G nucleotide substitution at the -5 position of intron 1 of the MUTYH gene. Multiple in silico models predict this variant to damage the nearby natural acceptor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MUTYH c.37-5T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is conserved through mammals. Based on currently available information, it is unclear whether MUTYH c.37-5T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024

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