NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 10, 2022
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:: RCV002255943.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter)]

NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter)

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.1341G>A (p.Trp447Ter)

HGVS:

NC_000001.11:g.45331233C>T
NG_008189.1:g.14238G>A
NM_001048171.2:c.1341G>A
NM_001048172.2:c.1344G>A
NM_001048173.2:c.1341G>A
NM_001048174.2:c.1341G>AMANE SELECT
NM_001128425.2:c.1425G>A
NM_001293190.2:c.1386G>A
NM_001293191.2:c.1374G>A
NM_001293192.2:c.1065G>A
NM_001293195.2:c.1341G>A
NM_001293196.2:c.1065G>A
NM_001350650.2:c.996G>A
NM_001350651.2:c.996G>A
NM_012222.3:c.1416G>A
NP_001041636.2:p.Trp447Ter
NP_001041637.1:p.Trp448Ter
NP_001041638.1:p.Trp447Ter
NP_001041639.1:p.Trp447Ter
NP_001121897.1:p.Trp475Ter
NP_001280119.1:p.Trp462Ter
NP_001280120.1:p.Trp458Ter
NP_001280121.1:p.Trp355Ter
NP_001280124.1:p.Trp447Ter
NP_001280125.1:p.Trp355Ter
NP_001337579.1:p.Trp332Ter
NP_001337580.1:p.Trp332Ter
NP_036354.1:p.Trp472Ter
LRG_220t1:c.1425G>A
LRG_220:g.14238G>A
NC_000001.10:g.45796905C>T
NM_001128425.1:c.1425G>A
NR_146882.2:n.1569G>A
NR_146883.2:n.1418G>A

Protein change:

W332*

Links:

dbSNP: rs2149112121

NCBI 1000 Genomes Browser:

rs2149112121

Molecular consequence:

NR_146882.2:n.1569G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1418G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001048171.2:c.1341G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001048172.2:c.1344G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001048173.2:c.1341G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001048174.2:c.1341G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001128425.2:c.1425G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293190.2:c.1386G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293191.2:c.1374G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293192.2:c.1065G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293195.2:c.1341G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293196.2:c.1065G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001350650.2:c.996G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001350651.2:c.996G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_012222.3:c.1416G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002532236	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely pathogenic (Mar 10, 2022)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 29625052, 18534194 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002532236

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely pathogenic
(Mar 10, 2022)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

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	curation

Citations

PubMed

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, et al.

Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.

PubMed [citation]

PMID:: 29625052
PMCID:: PMC5949147

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

Ali M, Kim H, Cleary S, Cupples C, Gallinger S, Bristow R.

Gastroenterology. 2008 Aug;135(2):499-507. doi: 10.1053/j.gastro.2008.04.035. Epub 2008 May 7.

PubMed [citation]

PMID:: 18534194
PMCID:: PMC2761659

Details of each submission

From Sema4, Sema4, SCV002532236.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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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