NM_001048174.2(MUTYH):c.1426_1433delinsCCAACAGCCCA (p.Thr476_Met478delinsProThrAlaGln) AND Familial adenomatous polyposis 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000767387.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1426_1433delinsCCAACAGCCCA (p.Thr476_Met478delinsProThrAlaGln)]

NM_001048174.2(MUTYH):c.1426_1433delinsCCAACAGCCCA (p.Thr476_Met478delinsProThrAlaGln)

Gene:

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

Variant type:

Indel

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.1426_1433delinsCCAACAGCCCA (p.Thr476_Met478delinsProThrAlaGln)

HGVS:

NC_000001.11:g.45330517_45330524delinsTGGGCTGTTGG
NG_008189.1:g.14947_14954delinsCCAACAGCCCA
NM_001048171.2:c.1426_1433delinsCCAACAGCCCA
NM_001048172.2:c.1429_1436delinsCCAACAGCCCA
NM_001048173.2:c.1426_1433delinsCCAACAGCCCA
NM_001048174.2:c.1426_1433delinsCCAACAGCCCAMANE SELECT
NM_001128425.2:c.1510_1517delinsCCAACAGCCCA
NM_001293190.2:c.1471_1478delinsCCAACAGCCCA
NM_001293191.2:c.1459_1466delinsCCAACAGCCCA
NM_001293192.2:c.1150_1157delinsCCAACAGCCCA
NM_001293195.2:c.1426_1433delinsCCAACAGCCCA
NM_001293196.2:c.1150_1157delinsCCAACAGCCCA
NM_001350650.2:c.1081_1088delinsCCAACAGCCCA
NM_001350651.2:c.1081_1088delinsCCAACAGCCCA
NM_012222.3:c.1501_1508delinsCCAACAGCCCA
NP_001041636.2:p.Thr476_Met478delinsProThrAlaGln
NP_001041637.1:p.Thr477_Met479delinsProThrAlaGln
NP_001041638.1:p.Thr476_Met478delinsProThrAlaGln
NP_001041639.1:p.Thr476_Met478delinsProThrAlaGln
NP_001121897.1:p.Thr504_Met506delinsProThrAlaGln
NP_001280119.1:p.Thr491_Met493delinsProThrAlaGln
NP_001280120.1:p.Thr487_Met489delinsProThrAlaGln
NP_001280121.1:p.Thr384_Met386delinsProThrAlaGln
NP_001280124.1:p.Thr476_Met478delinsProThrAlaGln
NP_001280125.1:p.Thr384_Met386delinsProThrAlaGln
NP_001337579.1:p.Thr361_Met363delinsProThrAlaGln
NP_001337580.1:p.Thr361_Met363delinsProThrAlaGln
NP_036354.1:p.Thr501_Met503delinsProThrAlaGln
LRG_220:g.14947_14954delinsCCAACAGCCCA
NC_000001.10:g.45796189_45796196delinsTGGGCTGTTGG
NR_146882.2:n.1654_1661delinsCCAACAGCCCA
NR_146883.2:n.1503_1510delinsCCAACAGCCCA
p.Thr504Profs*68

Links:

dbSNP: rs1557451154

NCBI 1000 Genomes Browser:

rs1557451154

Molecular consequence:

NM_001048171.2:c.1426_1433delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001048172.2:c.1429_1436delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001048173.2:c.1426_1433delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001048174.2:c.1426_1433delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001128425.2:c.1510_1517delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001293190.2:c.1471_1478delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001293191.2:c.1459_1466delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001293192.2:c.1150_1157delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001293195.2:c.1426_1433delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001293196.2:c.1150_1157delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001350650.2:c.1081_1088delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001350651.2:c.1081_1088delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_012222.3:c.1501_1508delinsCCAACAGCCCA - inframe_indel - [Sequence Ontology: SO:0001820]
NR_146882.2:n.1654_1661delinsCCAACAGCCCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1503_1510delinsCCAACAGCCCA - 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
SCV000844932	Molecular Oncology Laboratory, Hospital Clínico San Carlos	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic (Jun 1, 2018)	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

SCV000844932

Molecular Oncology Laboratory, Hospital Clínico San Carlos

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic
(Jun 1, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Molecular Oncology Laboratory, Hospital Clínico San Carlos, SCV000844932.1

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

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

Last Updated: Nov 5, 2022

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