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NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2024
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:
RCV002374880.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs)]

NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs)
HGVS:
  • NC_000001.11:g.45332458_45332463delinsAGCAGCTG
  • NG_008189.1:g.13008_13013delinsCAGCTGCT
  • NM_001048171.2:c.632_637delinsCAGCTGCT
  • NM_001048172.2:c.635_640delinsCAGCTGCT
  • NM_001048173.2:c.632_637delinsCAGCTGCT
  • NM_001048174.2:c.632_637delinsCAGCTGCTMANE SELECT
  • NM_001128425.2:c.716_721delinsCAGCTGCT
  • NM_001293190.2:c.677_682delinsCAGCTGCT
  • NM_001293191.2:c.665_670delinsCAGCTGCT
  • NM_001293192.2:c.356_361delinsCAGCTGCT
  • NM_001293195.2:c.632_637delinsCAGCTGCT
  • NM_001293196.2:c.356_361delinsCAGCTGCT
  • NM_001350650.2:c.287_292delinsCAGCTGCT
  • NM_001350651.2:c.287_292delinsCAGCTGCT
  • NM_012222.3:c.707_712delinsCAGCTGCT
  • NP_001041636.2:p.Val211fs
  • NP_001041637.1:p.Val212fs
  • NP_001041638.1:p.Val211fs
  • NP_001041639.1:p.Val211fs
  • NP_001121897.1:p.Val239fs
  • NP_001280119.1:p.Val226fs
  • NP_001280120.1:p.Val222fs
  • NP_001280121.1:p.Val119fs
  • NP_001280124.1:p.Val211fs
  • NP_001280125.1:p.Val119fs
  • NP_001337579.1:p.Val96fs
  • NP_001337580.1:p.Val96fs
  • NP_036354.1:p.Val236fs
  • LRG_220:g.13008_13013delinsCAGCTGCT
  • NC_000001.10:g.45798130_45798135delinsAGCAGCTG
  • NM_001128425.1:c.716_721delTAGCACinsCAGCTGCT
  • NR_146882.2:n.860_865delinsCAGCTGCT
  • NR_146883.2:n.709_714delinsCAGCTGCT
Protein change:
V119fs
Links:
dbSNP: rs1064793197
NCBI 1000 Genomes Browser:
rs1064793197
Molecular consequence:
  • NM_001048171.2:c.632_637delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.2:c.635_640delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.2:c.632_637delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.2:c.632_637delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.2:c.716_721delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.2:c.677_682delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.2:c.665_670delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293192.2:c.356_361delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.2:c.632_637delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293196.2:c.356_361delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.287_292delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350651.2:c.287_292delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.3:c.707_712delinsCAGCTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146882.2:n.860_865delinsCAGCTGCT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.709_714delinsCAGCTGCT - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002665592Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Dec 2, 2024)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.

Sutcliffe EG, Bartenbaker Thompson A, Stettner AR, Marshall ML, Roberts ME, Susswein LR, Wang Y, Klein RT, Hruska KS, Solomon BD.

Fam Cancer. 2019 Apr;18(2):203-209. doi: 10.1007/s10689-018-00116-2.

PubMed [citation]
PMID:
30604180

Details of each submission

From Ambry Genetics, SCV002665592.3

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

Description

The c.716_721delTAGCACinsCAGCTGCT pathogenic mutation, located in coding exon 9 of the MUTYH gene, results from the deletion of 6 nucleotides and insertion of 8 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.V239Afs*28). This mutation was observed in a cohort of patients with biallelic MUTYH mutations (Sutcliffe EG et al. Fam. Cancer 2019 04;18:203-209). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jan 13, 2025