NM_001048174.2(MUTYH):c.381del (p.Lys127fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 11, 2017
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:: RCV000657380.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.381del (p.Lys127fs)]

NM_001048174.2(MUTYH):c.381del (p.Lys127fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.381del (p.Lys127fs)

HGVS:

NC_000001.11:g.45332957del
NG_008189.1:g.12514del
NM_001048171.2:c.381del
NM_001048172.2:c.384del
NM_001048173.2:c.381del
NM_001048174.2:c.381delMANE SELECT
NM_001128425.2:c.465del
NM_001293190.2:c.426del
NM_001293191.2:c.414del
NM_001293192.2:c.105del
NM_001293195.2:c.381del
NM_001293196.2:c.105del
NM_001350650.2:c.36del
NM_001350651.2:c.36del
NM_012222.3:c.456del
NP_001041636.2:p.Lys127fs
NP_001041637.1:p.Lys128fs
NP_001041638.1:p.Lys127fs
NP_001041639.1:p.Lys127fs
NP_001121897.1:p.Lys155fs
NP_001280119.1:p.Lys142fs
NP_001280120.1:p.Lys138fs
NP_001280121.1:p.Lys35fs
NP_001280124.1:p.Lys127fs
NP_001280125.1:p.Lys35fs
NP_001337579.1:p.Lys12fs
NP_001337580.1:p.Lys12fs
NP_036354.1:p.Lys152fs
LRG_220:g.12514del
NC_000001.10:g.45798629del
NM_001128425.1:c.465delG
NR_146882.2:n.609del
NR_146883.2:n.458del

Protein change:

K127fs

Links:

dbSNP: rs1553129349

NCBI 1000 Genomes Browser:

rs1553129349

Molecular consequence:

NM_001048171.2:c.381del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048172.2:c.384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048173.2:c.381del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048174.2:c.381del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128425.2:c.465del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293190.2:c.426del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293191.2:c.414del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293192.2:c.105del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293195.2:c.381del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293196.2:c.105del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001350650.2:c.36del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001350651.2:c.36del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012222.3:c.456del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_146882.2:n.609del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.458del - 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
SCV000779113	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Sep 11, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779113

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Sep 11, 2017)

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, SCV000779113.2

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

Description

This deletion of one nucleotide in MUTYH is denoted c.465delG at the cDNA level and p.Lys155AsnfsX16 (K155NfsX16) at the protein level. The normal sequence, with the base that is deleted in brackets, is agAA[delG]TGGC, where the capital letters are exonic and lowercase are intronic. The deletion causes a frameshift which changes a Lysine to an Asparagine at codon 155, and creates a premature stop codon at position 16 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available evidence, we consider this deletion to be a likely pathogenic variant.

#	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: Mar 11, 2023

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