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NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 2015
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:
RCV002346192.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter)]

NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter)

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.437G>A (p.Trp146Ter)
HGVS:
  • NC_000001.11:g.45332818C>T
  • NG_008189.1:g.12653G>A
  • NM_001048171.2:c.437G>A
  • NM_001048172.2:c.440G>A
  • NM_001048173.2:c.437G>A
  • NM_001048174.2:c.437G>AMANE SELECT
  • NM_001128425.2:c.521G>A
  • NM_001293190.2:c.482G>A
  • NM_001293191.2:c.470G>A
  • NM_001293192.2:c.161G>A
  • NM_001293195.2:c.437G>A
  • NM_001293196.2:c.161G>A
  • NM_001350650.2:c.92G>A
  • NM_001350651.2:c.92G>A
  • NM_012222.3:c.512G>A
  • NP_001041636.2:p.Trp146Ter
  • NP_001041637.1:p.Trp147Ter
  • NP_001041638.1:p.Trp146Ter
  • NP_001041639.1:p.Trp146Ter
  • NP_001121897.1:p.Trp174Ter
  • NP_001280119.1:p.Trp161Ter
  • NP_001280120.1:p.Trp157Ter
  • NP_001280121.1:p.Trp54Ter
  • NP_001280124.1:p.Trp146Ter
  • NP_001280125.1:p.Trp54Ter
  • NP_001337579.1:p.Trp31Ter
  • NP_001337580.1:p.Trp31Ter
  • NP_036354.1:p.Trp171Ter
  • LRG_220t1:c.521G>A
  • LRG_220:g.12653G>A
  • NC_000001.10:g.45798490C>T
  • NM_001128425.1:c.521G>A
  • NR_146882.2:n.665G>A
  • NR_146883.2:n.514G>A
Protein change:
W146*
Links:
dbSNP: rs1306473047
NCBI 1000 Genomes Browser:
rs1306473047
Molecular consequence:
  • NR_146882.2:n.665G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.514G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.2:c.437G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048172.2:c.440G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048173.2:c.437G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048174.2:c.437G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001128425.2:c.521G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293190.2:c.482G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293191.2:c.470G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293192.2:c.161G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293195.2:c.437G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293196.2:c.161G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350650.2:c.92G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350651.2:c.92G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012222.3:c.512G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002646729Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 11, 2015) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.

Di Gregorio C, Frattini M, Maffei S, Ponti G, Losi L, Pedroni M, Venesio T, Bertario L, Varesco L, Risio M, Ponz de Leon M.

Gastroenterology. 2006 Aug;131(2):439-44.

PubMed [citation]
PMID:
16890597

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.

Cattaneo F, Molatore S, Mihalatos M, Apessos A, Venesio T, Bione S, Grignani P, Nasioulas G, Ranzani GN.

Genet Med. 2007 Dec;9(12):836-41.

PubMed [citation]
PMID:
18091433

Details of each submission

From Ambry Genetics, SCV002646729.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.W174* pathogenic mutation (also known as c.521G>A), located in coding exon 7 of the MUTYH gene, results from a G to A substitution at nucleotide position 521. This changes the amino acid from a tryptophan to a stop codon within coding exon 7. This mutation (designated as W160X) has been reported in conjunction with a second truncating MUTYH mutation in a male diagnosed with 100 adenomatous polyps at age 35 (Di Gregorio C et al, Gastroenterology 2006 Aug; 131(2):439-44). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025