NM_001048174.2(MUTYH):c.-6-95_42delinsC AND Familial adenomatous polyposis 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 9, 2018
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:: RCV000803300.5

Allele description [Variation Report for NM_001048174.2(MUTYH):c.-6-95_42delinsC]

NM_001048174.2(MUTYH):c.-6-95_42delinsC

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.-6-95_42delinsC

HGVS:

NC_000001.11:g.45334464_45334606delinsG
NG_008189.1:g.10865_11007delinsC
NM_001048171.2:c.-6-95_42delinsC
NM_001048172.2:c.-6-95_42delinsC
NM_001048173.2:c.-6-95_42delinsC
NM_001048174.2:c.-6-95_42delinsCMANE SELECT
NM_001128425.2:c.37-95_84delinsC
NM_001293190.2:c.37-95_84delinsC
NM_001293191.2:c.-6-95_42delinsC
NM_001293192.2:c.-218-95_-171delinsC
NM_001293195.2:c.-6-95_42delinsC
NM_001293196.2:c.-218-95_-171delinsC
NM_001350650.2:c.-277-95_-230delinsC
NM_001350651.2:c.-213-95_-166delinsC
NM_012222.3:c.37-95_84delinsC
LRG_220t1:c.37-95_84delinsC
LRG_220:g.10865_11007delinsC
NC_000001.10:g.45800136_45800278delCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATinsG
NC_000001.10:g.45800136_45800278delinsG
NM_001128425.1:c.37-95_84delinsC

Links:

dbSNP: rs1570465624

NCBI 1000 Genomes Browser:

rs1570465624

Molecular consequence:

NM_001048171.2:c.-6-95_42delinsC - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001048172.2:c.-6-95_42delinsC - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001048173.2:c.-6-95_42delinsC - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001048174.2:c.-6-95_42delinsC - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001293191.2:c.-6-95_42delinsC - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001293195.2:c.-6-95_42delinsC - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001048171.2:c.-6-95_42delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001048172.2:c.-6-95_42delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001048173.2:c.-6-95_42delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001048174.2:c.-6-95_42delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001128425.2:c.37-95_84delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001293190.2:c.37-95_84delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001293191.2:c.-6-95_42delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001293192.2:c.-218-95_-171delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001293195.2:c.-6-95_42delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001293196.2:c.-218-95_-171delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001350650.2:c.-277-95_-230delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001350651.2:c.-213-95_-166delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_012222.3:c.37-95_84delinsC - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000943164	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 9, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18534194, 20663686, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000943164

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 9, 2018)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000943164.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). For these reasons, this variant has been classified as Pathogenic. This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with early-onset colon cancer (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant is not present in population databases (ExAC no frequency). This variant is a deletion of the genomic region encompassing part of exon 2 (c.37-95_84delinsC) of the MUTYH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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