NM_001048174.2(MUTYH):c.480G>C (p.Glu160Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 12, 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:: RCV000589262.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.480G>C (p.Glu160Asp)]

NM_001048174.2(MUTYH):c.480G>C (p.Glu160Asp)

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.480G>C (p.Glu160Asp)

HGVS:

NC_000001.11:g.45332775C>G
NG_008189.1:g.12696G>C
NM_001048171.2:c.480G>C
NM_001048172.2:c.483G>C
NM_001048173.2:c.480G>C
NM_001048174.2:c.480G>CMANE SELECT
NM_001128425.2:c.564G>C
NM_001293190.2:c.525G>C
NM_001293191.2:c.513G>C
NM_001293192.2:c.204G>C
NM_001293195.2:c.480G>C
NM_001293196.2:c.204G>C
NM_001350650.2:c.135G>C
NM_001350651.2:c.135G>C
NM_012222.3:c.555G>C
NP_001041636.2:p.Glu160Asp
NP_001041637.1:p.Glu161Asp
NP_001041638.1:p.Glu160Asp
NP_001041639.1:p.Glu160Asp
NP_001121897.1:p.Glu188Asp
NP_001121897.1:p.Glu188Asp
NP_001280119.1:p.Glu175Asp
NP_001280120.1:p.Glu171Asp
NP_001280121.1:p.Glu68Asp
NP_001280124.1:p.Glu160Asp
NP_001280125.1:p.Glu68Asp
NP_001337579.1:p.Glu45Asp
NP_001337580.1:p.Glu45Asp
NP_036354.1:p.Glu185Asp
LRG_220t1:c.564G>C
LRG_220:g.12696G>C
LRG_220p1:p.Glu188Asp
NC_000001.10:g.45798447C>G
NM_001128425.1:c.564G>C
NR_146882.2:n.708G>C
NR_146883.2:n.557G>C

Protein change:

E160D

Links:

dbSNP: rs1335408660

NCBI 1000 Genomes Browser:

rs1335408660

Molecular consequence:

NM_001048171.2:c.480G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.483G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.480G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.480G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.564G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.525G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.204G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.480G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.204G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.135G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.135G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.555G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.708G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.557G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000697703	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Mar 12, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000697703

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Mar 12, 2019)

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697703.2

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

Description

Variant summary: MUTYH c.564G>C (p.Glu188Asp) results in a conservative amino acid change located in the HhH-GPD domain (IPR003265) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 246272 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.564G>C in individuals affected with MUTYH-associated Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as 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: Sep 29, 2024

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