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NM_001048174.2(MUTYH):c.391C>A (p.Leu131Met) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 2023
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:
RCV000215207.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.391C>A (p.Leu131Met)]

NM_001048174.2(MUTYH):c.391C>A (p.Leu131Met)

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.391C>A (p.Leu131Met)
HGVS:
  • NC_000001.11:g.45332947G>T
  • NG_008189.1:g.12524C>A
  • NM_001048171.2:c.391C>A
  • NM_001048172.2:c.394C>A
  • NM_001048173.2:c.391C>A
  • NM_001048174.2:c.391C>AMANE SELECT
  • NM_001128425.2:c.475C>A
  • NM_001293190.2:c.436C>A
  • NM_001293191.2:c.424C>A
  • NM_001293192.2:c.115C>A
  • NM_001293195.2:c.391C>A
  • NM_001293196.2:c.115C>A
  • NM_001350650.2:c.46C>A
  • NM_001350651.2:c.46C>A
  • NM_012222.3:c.466C>A
  • NP_001041636.2:p.Leu131Met
  • NP_001041637.1:p.Leu132Met
  • NP_001041638.1:p.Leu131Met
  • NP_001041639.1:p.Leu131Met
  • NP_001121897.1:p.Leu159Met
  • NP_001121897.1:p.Leu159Met
  • NP_001280119.1:p.Leu146Met
  • NP_001280120.1:p.Leu142Met
  • NP_001280121.1:p.Leu39Met
  • NP_001280124.1:p.Leu131Met
  • NP_001280125.1:p.Leu39Met
  • NP_001337579.1:p.Leu16Met
  • NP_001337580.1:p.Leu16Met
  • NP_036354.1:p.Leu156Met
  • LRG_220t1:c.475C>A
  • LRG_220:g.12524C>A
  • LRG_220p1:p.Leu159Met
  • NC_000001.10:g.45798619G>T
  • NM_001128425.1:c.475C>A
  • NR_146882.2:n.619C>A
  • NR_146883.2:n.468C>A
Protein change:
L131M
Links:
dbSNP: rs199862273
NCBI 1000 Genomes Browser:
rs199862273
Molecular consequence:
  • NM_001048171.2:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.394C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.475C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.436C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.424C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.115C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.115C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.2:c.46C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.2:c.46C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.466C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.619C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.468C>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000277285Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 18, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]
PMID:
25186627

Details of each submission

From Ambry Genetics, SCV000277285.7

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

Description

The p.L159M variant (also known as c.475C>A), located in coding exon 6 of the MUTYH gene, results from a C to A substitution at nucleotide position 475. The leucine at codon 159 is replaced by methionine, an amino acid with highly similar properties. This alteration was also detected on a 25-gene panel test in a woman who was diagnosed with breast cancer after age 50 (Tung N et al. Cancer. 2015 Jan;121:25-33). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024