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NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs) AND Familial adenomatous polyposis 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 9, 2022
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:
RCV001907649.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs)]

NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs)
HGVS:
  • NC_000001.11:g.45331838_45331839del
  • NG_008189.1:g.13632_13633del
  • NM_001048171.2:c.924_925del
  • NM_001048172.2:c.927_928del
  • NM_001048173.2:c.924_925del
  • NM_001048174.2:c.924_925delMANE SELECT
  • NM_001128425.2:c.1008_1009del
  • NM_001293190.2:c.969_970del
  • NM_001293191.2:c.957_958del
  • NM_001293192.2:c.648_649del
  • NM_001293195.2:c.924_925del
  • NM_001293196.2:c.648_649del
  • NM_001350650.2:c.579_580del
  • NM_001350651.2:c.579_580del
  • NM_012222.3:c.999_1000del
  • NP_001041636.2:p.Gly309fs
  • NP_001041637.1:p.Gly310fs
  • NP_001041638.1:p.Gly309fs
  • NP_001041639.1:p.Gly309fs
  • NP_001121897.1:p.Gly337fs
  • NP_001280119.1:p.Gly324fs
  • NP_001280120.1:p.Gly320fs
  • NP_001280121.1:p.Gly217fs
  • NP_001280124.1:p.Gly309fs
  • NP_001280125.1:p.Gly217fs
  • NP_001337579.1:p.Gly194fs
  • NP_001337580.1:p.Gly194fs
  • NP_036354.1:p.Gly334fs
  • LRG_220:g.13632_13633del
  • NC_000001.10:g.45797510_45797511del
  • NR_146882.2:n.1152_1153del
  • NR_146883.2:n.1001_1002del
Protein change:
G194fs
Links:
dbSNP: rs2149129901
NCBI 1000 Genomes Browser:
rs2149129901
Molecular consequence:
  • NM_001048171.2:c.924_925del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.2:c.927_928del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.2:c.924_925del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.2:c.924_925del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.2:c.1008_1009del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.2:c.969_970del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.2:c.957_958del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293192.2:c.648_649del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.2:c.924_925del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293196.2:c.648_649del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.2:c.579_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350651.2:c.579_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.3:c.999_1000del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146882.2:n.1152_1153del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1001_1002del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002128905Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jun 9, 2022)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP.

Nat Genet. 2002 Feb;30(2):227-32. Epub 2002 Jan 30.

PubMed [citation]
PMID:
11818965

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

Parker AR, Sieber OM, Shi C, Hua L, Takao M, Tomlinson IP, Eshleman JR.

Carcinogenesis. 2005 Nov;26(11):2010-8. Epub 2005 Jun 29.

PubMed [citation]
PMID:
15987719
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002128905.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MUTYH protein in which other variant(s) (p.Gly396Asp) have been determined to be pathogenic (PMID: 11818965, 15987719, 16557584, 18534194, 20848659, 23035301). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This sequence change creates a premature translational stop signal (p.Gly337Thrfs*194) in the MUTYH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 213 amino acid(s) of the MUTYH protein.

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

Last Updated: Jan 13, 2025