NM_001048174.2(MUTYH):c.1393-17C>G AND Familial adenomatous polyposis 2

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jan 21, 2024
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:: RCV000673902.8

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1393-17C>G]

NM_001048174.2(MUTYH):c.1393-17C>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.1393-17C>G

HGVS:

NC_000001.11:g.45330574G>C
NG_008189.1:g.14897C>G
NM_001048171.2:c.1393-17C>G
NM_001048172.2:c.1396-17C>G
NM_001048173.2:c.1393-17C>G
NM_001048174.2:c.1393-17C>GMANE SELECT
NM_001128425.2:c.1477-17C>G
NM_001293190.2:c.1438-17C>G
NM_001293191.2:c.1426-17C>G
NM_001293192.2:c.1117-17C>G
NM_001293195.2:c.1393-17C>G
NM_001293196.2:c.1117-17C>G
NM_001350650.2:c.1048-17C>G
NM_001350651.2:c.1048-17C>G
NM_012222.3:c.1468-17C>G
LRG_220t1:c.1477-17C>G
LRG_220:g.14897C>G
NC_000001.10:g.45796246G>C
NM_001048171.1:c.1435-17C>G
NM_001128425.1:c.1477-17C>G

Links:

dbSNP: rs199664013

NCBI 1000 Genomes Browser:

rs199664013

Molecular consequence:

NM_001048171.2:c.1393-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001048172.2:c.1396-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001048173.2:c.1393-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001048174.2:c.1393-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001128425.2:c.1477-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293190.2:c.1438-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293191.2:c.1426-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293192.2:c.1117-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293195.2:c.1393-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293196.2:c.1117-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001350650.2:c.1048-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001350651.2:c.1048-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_012222.3:c.1468-17C>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000799156	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely benign (Apr 9, 2018)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 27978560, 28135145, 25186627, 17524638, 17931073 Citation Link,
SCV002464282	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 21, 2024)	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

SCV000799156

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely benign
(Apr 9, 2018)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV002464282

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 21, 2024)

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, et al.

JAMA Oncol. 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194.

PubMed [citation]

PMID:: 27978560
PMCID:: PMC5564179

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S.

J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30.

PubMed [citation]

PMID:: 28135145
PMCID:: PMC5455355

See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000799156.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002464282.3

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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