NM_001048174.2(MUTYH):c.1287del (p.Leu430fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 12, 2024
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:: RCV001011237.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1287del (p.Leu430fs)]

NM_001048174.2(MUTYH):c.1287del (p.Leu430fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.1287del (p.Leu430fs)

HGVS:

NC_000001.11:g.45331289del
NG_008189.1:g.14184del
NM_001048171.2:c.1287del
NM_001048172.2:c.1290del
NM_001048173.2:c.1287del
NM_001048174.2:c.1287delMANE SELECT
NM_001128425.2:c.1371del
NM_001293190.2:c.1332del
NM_001293191.2:c.1320del
NM_001293192.2:c.1011del
NM_001293195.2:c.1287del
NM_001293196.2:c.1011del
NM_001350650.2:c.942del
NM_001350651.2:c.942del
NM_012222.3:c.1362del
NP_001041636.2:p.Leu430fs
NP_001041637.1:p.Leu431fs
NP_001041638.1:p.Leu430fs
NP_001041639.1:p.Leu430fs
NP_001121897.1:p.Leu458fs
NP_001280119.1:p.Leu445fs
NP_001280120.1:p.Leu441fs
NP_001280121.1:p.Leu338fs
NP_001280124.1:p.Leu430fs
NP_001280125.1:p.Leu338fs
NP_001337579.1:p.Leu315fs
NP_001337580.1:p.Leu315fs
NP_036354.1:p.Leu455fs
LRG_220t1:c.1371del
LRG_220:g.14184del
NC_000001.10:g.45796961del
NM_001128425.1:c.1371delG
NR_146882.2:n.1515del
NR_146883.2:n.1364del

Protein change:

L315fs

Links:

dbSNP: rs1570366181

NCBI 1000 Genomes Browser:

rs1570366181

Molecular consequence:

NM_001048171.2:c.1287del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048172.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048173.2:c.1287del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048174.2:c.1287del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128425.2:c.1371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293190.2:c.1332del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293191.2:c.1320del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293192.2:c.1011del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293195.2:c.1287del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293196.2:c.1011del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001350650.2:c.942del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001350651.2:c.942del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012222.3:c.1362del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_146882.2:n.1515del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1364del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001171535	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001171535

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 12, 2024)

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 Ambry Genetics, SCV001171535.4

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

Description

The c.1371delG pathogenic mutation, located in coding exon 14 of the MUTYH gene, results from a deletion of one nucleotide at nucleotide position 1371, causing a translational frameshift with a predicted alternate stop codon (p.L458Wfs*9). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 7, 2024

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