NM_001048174.2(MUTYH):c.41A>T (p.Lys14Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 9, 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:: RCV000588717.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.41A>T (p.Lys14Met)]

NM_001048174.2(MUTYH):c.41A>T (p.Lys14Met)

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.41A>T (p.Lys14Met)

HGVS:

NC_000001.11:g.45334465T>A
NG_008189.1:g.11006A>T
NM_001048171.2:c.41A>T
NM_001048172.2:c.41A>T
NM_001048173.2:c.41A>T
NM_001048174.2:c.41A>TMANE SELECT
NM_001128425.2:c.83A>T
NM_001293190.2:c.83A>T
NM_001293191.2:c.41A>T
NM_001293192.2:c.-172A>T
NM_001293195.2:c.41A>T
NM_001293196.2:c.-172A>T
NM_001350650.2:c.-231A>T
NM_001350651.2:c.-167A>T
NM_012222.3:c.83A>T
NP_001041636.2:p.Lys14Met
NP_001041637.1:p.Lys14Met
NP_001041638.1:p.Lys14Met
NP_001041639.1:p.Lys14Met
NP_001121897.1:p.Lys28Met
NP_001121897.1:p.Lys28Met
NP_001280119.1:p.Lys28Met
NP_001280120.1:p.Lys14Met
NP_001280124.1:p.Lys14Met
NP_036354.1:p.Lys28Met
LRG_220t1:c.83A>T
LRG_220:g.11006A>T
LRG_220p1:p.Lys28Met
NC_000001.10:g.45800137T>A
NM_001128425.1:c.83A>T
NR_146882.2:n.269A>T
NR_146883.2:n.192A>T

Protein change:

K14M

Links:

dbSNP: rs1553131499

NCBI 1000 Genomes Browser:

rs1553131499

Molecular consequence:

NM_001293192.2:c.-172A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293196.2:c.-172A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350650.2:c.-231A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350651.2:c.-167A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001048171.2:c.41A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.41A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.41A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.41A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.83A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.83A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.41A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.41A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.83A>T - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.269A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.192A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000697694	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (May 9, 2016)	germline	clinical testing	LabCorp Variant Classification Summary - May 2015.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000697694

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(May 9, 2016)

germline

clinical testing

LabCorp Variant Classification Summary - May 2015.docx

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, SCV000697694.1

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

Description

Variant summary: The MUTYH c.83A>T (p.Lys28Met) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome. This variant was absent in 121410 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

#	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: Nov 5, 2022

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