NM_001048174.2(MUTYH):c.818_835dup (p.Pro273_Cys278dup) AND Familial adenomatous polyposis 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 8, 2019
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:: RCV001209428.7

Allele description [Variation Report for NM_001048174.2(MUTYH):c.818_835dup (p.Pro273_Cys278dup)]

NM_001048174.2(MUTYH):c.818_835dup (p.Pro273_Cys278dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.818_835dup (p.Pro273_Cys278dup)

HGVS:

NC_000001.11:g.45332185_45332202dup
NG_008189.1:g.13274_13291dup
NM_001048171.2:c.818_835dup
NM_001048172.2:c.821_838dup
NM_001048173.2:c.818_835dup
NM_001048174.2:c.818_835dupMANE SELECT
NM_001128425.2:c.902_919dup
NM_001293190.2:c.863_880dup
NM_001293191.2:c.851_868dup
NM_001293192.2:c.542_559dup
NM_001293195.2:c.818_835dup
NM_001293196.2:c.542_559dup
NM_001350650.2:c.473_490dup
NM_001350651.2:c.473_490dup
NM_012222.3:c.893_910dup
NP_001041636.2:p.Pro273_Cys278dup
NP_001041637.1:p.Pro274_Cys279dup
NP_001041638.1:p.Pro273_Cys278dup
NP_001041639.1:p.Pro273_Cys278dup
NP_001121897.1:p.Pro301_Cys306dup
NP_001280119.1:p.Pro288_Cys293dup
NP_001280120.1:p.Pro284_Cys289dup
NP_001280121.1:p.Pro181_Cys186dup
NP_001280124.1:p.Pro273_Cys278dup
NP_001280125.1:p.Pro181_Cys186dup
NP_001337579.1:p.Pro158_Cys163dup
NP_001337580.1:p.Pro158_Cys163dup
NP_036354.1:p.Pro298_Cys303dup
LRG_220t1:c.902_919dup
LRG_220:g.13274_13291dup
NC_000001.10:g.45797851_45797852insGGCACAGGCTCTCCACAG
NC_000001.10:g.45797857_45797874dup
NM_001128425.1:c.902_919dup
NM_001128425.1:c.902_919dupCTGTGGAGAGCCTGTGCC
NR_146882.2:n.1046_1063dup
NR_146883.2:n.895_912dup

Links:

dbSNP: rs1645020416

NCBI 1000 Genomes Browser:

rs1645020416

Molecular consequence:

NM_001048171.2:c.818_835dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001048172.2:c.821_838dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001048173.2:c.818_835dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001048174.2:c.818_835dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001128425.2:c.902_919dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001293190.2:c.863_880dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001293191.2:c.851_868dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001293192.2:c.542_559dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001293195.2:c.818_835dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001293196.2:c.542_559dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001350650.2:c.473_490dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001350651.2:c.473_490dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_012222.3:c.893_910dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_146882.2:n.1046_1063dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.895_912dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001380861	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 8, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001380861

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 8, 2019)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001380861.5

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with MUTYH-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.902_919dup, results in the insertion of 6 amino acid(s) to the MUTYH protein (p.Pro301_Cys306dup), but otherwise preserves the integrity of the reading frame.

#	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: Feb 28, 2024

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