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NM_001048174.2(MUTYH):c.310del (p.Val104fs) AND Familial adenomatous polyposis 2

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Nov 30, 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:
RCV003614048.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.310del (p.Val104fs)]

NM_001048174.2(MUTYH):c.310del (p.Val104fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.310del (p.Val104fs)
HGVS:
  • NC_000001.11:g.45333167del
  • NG_008189.1:g.12306del
  • NM_001048171.2:c.310del
  • NM_001048172.2:c.313del
  • NM_001048173.2:c.310del
  • NM_001048174.2:c.310delMANE SELECT
  • NM_001128425.2:c.394del
  • NM_001293190.2:c.355del
  • NM_001293191.2:c.343del
  • NM_001293192.2:c.34del
  • NM_001293195.2:c.310del
  • NM_001293196.2:c.34del
  • NM_001350650.2:c.33+120del
  • NM_001350651.2:c.33+120del
  • NM_012222.3:c.385del
  • NP_001041636.2:p.Val104fs
  • NP_001041637.1:p.Val105fs
  • NP_001041638.1:p.Val104fs
  • NP_001041639.1:p.Val104fs
  • NP_001121897.1:p.Val132fs
  • NP_001280119.1:p.Val119fs
  • NP_001280120.1:p.Val115fs
  • NP_001280121.1:p.Val12fs
  • NP_001280124.1:p.Val104fs
  • NP_001280125.1:p.Val12fs
  • NP_036354.1:p.Val129fs
  • LRG_220:g.12306del
  • NC_000001.10:g.45798837del
  • NC_000001.10:g.45798839del
  • NM_001128425.1:c.394delG
  • NR_146882.2:n.538del
Protein change:
V104fs
Links:
dbSNP: rs1553129676
NCBI 1000 Genomes Browser:
rs1553129676
Molecular consequence:
  • NM_001048171.2:c.310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.2:c.313del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.2:c.310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.2:c.310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.2:c.394del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.2:c.355del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.2:c.343del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293192.2:c.34del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.2:c.310del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293196.2:c.34del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.3:c.385del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.33+120del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350651.2:c.33+120del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_146882.2:n.538del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Name:
Familial adenomatous polyposis 2
Synonyms:
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; MYH-associated polyposis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012041; MedGen: C3272841; Orphanet: 220460; OMIM: 608456

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004374960Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jul 25, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV004830749All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely Pathogenic
(Nov 30, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot provided108544not providedclinical testing

Citations

PubMed

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

Ali M, Kim H, Cleary S, Cupples C, Gallinger S, Bristow R.

Gastroenterology. 2008 Aug;135(2):499-507. doi: 10.1053/j.gastro.2008.04.035. Epub 2008 May 7.

PubMed [citation]
PMID:
18534194
PMCID:
PMC2761659

MUTYH-associated polyposis (MAP).

Nielsen M, Morreau H, Vasen HF, Hes FJ.

Crit Rev Oncol Hematol. 2011 Jul;79(1):1-16. doi: 10.1016/j.critrevonc.2010.05.011. Epub 2010 Jul 21. Review.

PubMed [citation]
PMID:
20663686
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004374960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 483932). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val132Serfs*14) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686).

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

From All of Us Research Program, National Institutes of Health, SCV004830749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided2not providednot providednot provided

Last Updated: Jan 13, 2025