NM_001048174.2(MUTYH):c.1232T>C (p.Leu411Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Oct 13, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001010938.5

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1232T>C (p.Leu411Pro)]

NM_001048174.2(MUTYH):c.1232T>C (p.Leu411Pro)

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.1232T>C (p.Leu411Pro)
HGVS:
  • NC_000001.11:g.45331427A>G
  • NG_008189.1:g.14044T>C
  • NM_001048171.2:c.1232T>C
  • NM_001048172.2:c.1235T>C
  • NM_001048173.2:c.1232T>C
  • NM_001048174.2:c.1232T>CMANE SELECT
  • NM_001128425.2:c.1316T>C
  • NM_001293190.2:c.1277T>C
  • NM_001293191.2:c.1265T>C
  • NM_001293192.2:c.956T>C
  • NM_001293195.2:c.1232T>C
  • NM_001293196.2:c.956T>C
  • NM_001350650.2:c.887T>C
  • NM_001350651.2:c.887T>C
  • NM_012222.3:c.1307T>C
  • NP_001041636.2:p.Leu411Pro
  • NP_001041637.1:p.Leu412Pro
  • NP_001041638.1:p.Leu411Pro
  • NP_001041639.1:p.Leu411Pro
  • NP_001121897.1:p.Leu439Pro
  • NP_001121897.1:p.Leu439Pro
  • NP_001280119.1:p.Leu426Pro
  • NP_001280120.1:p.Leu422Pro
  • NP_001280121.1:p.Leu319Pro
  • NP_001280124.1:p.Leu411Pro
  • NP_001280125.1:p.Leu319Pro
  • NP_001337579.1:p.Leu296Pro
  • NP_001337580.1:p.Leu296Pro
  • NP_036354.1:p.Leu436Pro
  • LRG_220t1:c.1316T>C
  • LRG_220:g.14044T>C
  • LRG_220p1:p.Leu439Pro
  • NC_000001.10:g.45797099A>G
  • NM_001128425.1:c.1316T>C
  • NR_146882.2:n.1460T>C
  • NR_146883.2:n.1309T>C
Protein change:
L296P
Links:
dbSNP: rs587780745
NCBI 1000 Genomes Browser:
rs587780745
Molecular consequence:
  • NM_001048171.2:c.1232T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.1232T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.1232T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.1316T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.1277T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.1265T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.1232T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.2:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.2:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.1460T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1309T>C - 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
SCV001171203Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 2023) 		germlineclinical testing

Citation Link,

SCV002532227Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Nov 13, 2021) 		germlinecuration

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, curation

Citations

PubMed

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105

Details of each submission

From Ambry Genetics, SCV001171203.4

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

Description

The p.L439P variant (also known as c.1316T>C), located in coding exon 13 of the MUTYH gene, results from a T to C substitution at nucleotide position 1316. The leucine at codon 439 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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

From Sema4, Sema4, SCV002532227.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024