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NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 17, 2021
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:
RCV002430325.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter)]

NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter)

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.40A>T (p.Lys14Ter)
HGVS:
  • NC_000001.11:g.45334466T>A
  • NG_008189.1:g.11005A>T
  • NM_001048171.2:c.40A>T
  • NM_001048172.2:c.40A>T
  • NM_001048173.2:c.40A>T
  • NM_001048174.2:c.40A>TMANE SELECT
  • NM_001128425.2:c.82A>T
  • NM_001293190.2:c.82A>T
  • NM_001293191.2:c.40A>T
  • NM_001293192.2:c.-173A>T
  • NM_001293195.2:c.40A>T
  • NM_001293196.2:c.-173A>T
  • NM_001350650.2:c.-232A>T
  • NM_001350651.2:c.-168A>T
  • NM_001407069.1:c.82A>T
  • NM_001407070.1:c.40A>T
  • NM_001407071.1:c.40A>T
  • NM_001407072.1:c.40A>T
  • NM_001407073.1:c.82A>T
  • NM_001407075.1:c.-117A>T
  • NM_001407077.1:c.40A>T
  • NM_001407078.1:c.40A>T
  • NM_001407079.1:c.40A>T
  • NM_001407080.1:c.40A>T
  • NM_001407081.1:c.40A>T
  • NM_001407082.1:c.-168A>T
  • NM_001407083.1:c.40A>T
  • NM_001407085.1:c.40A>T
  • NM_001407086.1:c.40A>T
  • NM_001407087.1:c.58A>T
  • NM_001407088.1:c.40A>T
  • NM_001407089.1:c.40A>T
  • NM_001407091.1:c.-173A>T
  • NM_012222.3:c.82A>T
  • NP_001041636.2:p.Lys14Ter
  • NP_001041637.1:p.Lys14Ter
  • NP_001041638.1:p.Lys14Ter
  • NP_001041639.1:p.Lys14Ter
  • NP_001121897.1:p.Lys28Ter
  • NP_001121897.1:p.Lys28Ter
  • NP_001280119.1:p.Lys28Ter
  • NP_001280120.1:p.Lys14Ter
  • NP_001280124.1:p.Lys14Ter
  • NP_001393998.1:p.Lys28Ter
  • NP_001393999.1:p.Lys14Ter
  • NP_001394000.1:p.Lys14Ter
  • NP_001394001.1:p.Lys14Ter
  • NP_001394002.1:p.Lys28Ter
  • NP_001394006.1:p.Lys14Ter
  • NP_001394007.1:p.Lys14Ter
  • NP_001394008.1:p.Lys14Ter
  • NP_001394009.1:p.Lys14Ter
  • NP_001394010.1:p.Lys14Ter
  • NP_001394012.1:p.Lys14Ter
  • NP_001394014.1:p.Lys14Ter
  • NP_001394015.1:p.Lys14Ter
  • NP_001394016.1:p.Lys20Ter
  • NP_001394017.1:p.Lys14Ter
  • NP_001394018.1:p.Lys14Ter
  • NP_036354.1:p.Lys28Ter
  • LRG_220t1:c.82A>T
  • LRG_220:g.11005A>T
  • LRG_220p1:p.Lys28Ter
  • NC_000001.10:g.45800138T>A
  • NM_001128425.1:c.82A>T
  • NR_146882.2:n.268A>T
  • NR_146883.2:n.191A>T
  • NR_176269.1:n.264A>T
  • NR_176270.1:n.268A>T
  • NR_176271.1:n.191A>T
  • NR_176272.1:n.191A>T
  • NR_176273.1:n.191A>T
  • NR_176274.1:n.268A>T
Protein change:
K14*
Molecular consequence:
  • NM_001293192.2:c.-173A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.2:c.-173A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.2:c.-232A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.2:c.-168A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_146882.2:n.268A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.191A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.2:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048172.2:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048173.2:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048174.2:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001128425.2:c.82A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293190.2:c.82A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293191.2:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293195.2:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407069.1:c.82A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407070.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407071.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407072.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407073.1:c.82A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407077.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407078.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407079.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407080.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407081.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407083.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407085.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407086.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407087.1:c.58A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407088.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407089.1:c.40A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012222.3:c.82A>T - 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
SCV002679285Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Dec 17, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002679285.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.K28* variant (also known as c.82A>T), located in coding exon 2 of the MUTYH gene, results from an A to T substitution at nucleotide position 82. This changes the amino acid from a lysine to a stop codon within coding exon 2. The predicted stop codon occurs in the 5’ end of theMUTYH gene. Premature termination codons in the 5’ end of a gene have been reported to escape nonsense-mediated mRNAdecay and/or lead to re-initiation (Rivas et al. Science. 2015 May 8;348(6235):666-9; Lindeboom et al. Nat Genet. 2016 Oct;48(10):1112-8; Rhee et al. Sci Rep. 2017 May 10;7(1):1653). Direct evidence for this alteration is unavailable, however premature termination codons are typically deleterious in nature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: May 1, 2024