NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs) AND Familial adenomatous polyposis 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 26, 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:: RCV003005744.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs)]

NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs)

HGVS:

NC_000001.11:g.45334404_45334405insCA
NG_008189.1:g.11067_11068insGT
NM_001048171.2:c.102_103insGT
NM_001048172.2:c.102_103insGT
NM_001048173.2:c.102_103insGT
NM_001048174.2:c.102_103insGTMANE SELECT
NM_001128425.2:c.144_145insGT
NM_001293190.2:c.144_145insGT
NM_001293191.2:c.102_103insGT
NM_001293192.2:c.-111_-110insGT
NM_001293195.2:c.102_103insGT
NM_001293196.2:c.-111_-110insGT
NM_001350650.2:c.-170_-169insGT
NM_001350651.2:c.-106_-105insGT
NM_001407069.1:c.143_144insTG
NM_001407070.1:c.101_102insTG
NM_001407071.1:c.101_102insTG
NM_001407072.1:c.101_102insTG
NM_001407073.1:c.143_144insTG
NM_001407075.1:c.-56_-55insTG
NM_001407077.1:c.101_102insTG
NM_001407078.1:c.101_102insTG
NM_001407079.1:c.101_102insTG
NM_001407080.1:c.101_102insTG
NM_001407081.1:c.101_102insTG
NM_001407082.1:c.-107_-106insTG
NM_001407083.1:c.101_102insTG
NM_001407085.1:c.101_102insTG
NM_001407086.1:c.101_102insTG
NM_001407087.1:c.119_120insTG
NM_001407088.1:c.101_102insTG
NM_001407089.1:c.101_102insTG
NM_001407091.1:c.-112_-111insTG
NM_012222.3:c.144_145insGT
NP_001041636.2:p.Ser35fs
NP_001041637.1:p.Ser35fs
NP_001041638.1:p.Ser35fs
NP_001041639.1:p.Ser35fs
NP_001121897.1:p.Ser49Valfs
NP_001121897.1:p.Ser49fs
NP_001280119.1:p.Ser49fs
NP_001280120.1:p.Ser35fs
NP_001280124.1:p.Ser35fs
NP_001393998.1:p.Ser49Valfs
NP_001393999.1:p.Ser35Valfs
NP_001394000.1:p.Ser35Valfs
NP_001394001.1:p.Ser35Valfs
NP_001394002.1:p.Ser49Valfs
NP_001394006.1:p.Ser35Valfs
NP_001394007.1:p.Ser35Valfs
NP_001394008.1:p.Ser35Valfs
NP_001394009.1:p.Ser35Valfs
NP_001394010.1:p.Ser35Valfs
NP_001394012.1:p.Ser35Valfs
NP_001394014.1:p.Ser35Valfs
NP_001394015.1:p.Ser35Valfs
NP_001394016.1:p.Ser41Valfs
NP_001394017.1:p.Ser35Valfs
NP_001394018.1:p.Ser35Valfs
NP_036354.1:p.Ser49fs
LRG_220t1:c.143_144insTG
LRG_220:g.11067_11068insGT
LRG_220p1:p.Ser49Valfs
NC_000001.10:g.45800075_45800076insAC
NC_000001.10:g.45800076_45800077insCA
NM_001128425.1:c.143_144insTG
NR_146882.2:n.330_331insGT
NR_146883.2:n.253_254insGT
NR_176269.1:n.325_326insTG
NR_176270.1:n.329_330insTG
NR_176271.1:n.252_253insTG
NR_176272.1:n.252_253insTG
NR_176273.1:n.252_253insTG
NR_176274.1:n.329_330insTG

Protein change:

S35fs

Molecular consequence:

NM_001293192.2:c.-111_-110insGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293196.2:c.-111_-110insGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350650.2:c.-170_-169insGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350651.2:c.-106_-105insGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001048171.2:c.102_103insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048172.2:c.102_103insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048173.2:c.102_103insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001048174.2:c.102_103insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128425.2:c.144_145insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293190.2:c.144_145insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293191.2:c.102_103insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001293195.2:c.102_103insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407069.1:c.143_144insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407070.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407071.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407072.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407073.1:c.143_144insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407077.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407078.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407079.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407080.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407081.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407083.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407085.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407086.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407087.1:c.119_120insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407088.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407089.1:c.101_102insTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012222.3:c.144_145insGT - frameshift variant - [Sequence Ontology: SO:0001589]
NR_146882.2:n.330_331insGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.253_254insGT - 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
SCV003301046	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 26, 2022)	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

SCV003301046

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 26, 2022)

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, SCV003301046.2

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser49Valfs*10) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686).

#	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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