NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=) AND Familial adenomatous polyposis 2

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Nov 17, 2023
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:: RCV000542792.14

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)]

NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)

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.1227G>A (p.Arg409=)

HGVS:

NC_000001.11:g.45331432C>T
NG_008189.1:g.14039G>A
NM_001048171.2:c.1227G>A
NM_001048172.2:c.1230G>A
NM_001048173.2:c.1227G>A
NM_001048174.2:c.1227G>AMANE SELECT
NM_001128425.2:c.1311G>A
NM_001293190.2:c.1272G>A
NM_001293191.2:c.1260G>A
NM_001293192.2:c.951G>A
NM_001293195.2:c.1227G>A
NM_001293196.2:c.951G>A
NM_001350650.2:c.882G>A
NM_001350651.2:c.882G>A
NM_012222.3:c.1302G>A
NP_001041636.1:p.Arg423=
NP_001041636.2:p.Arg409=
NP_001041637.1:p.Arg410=
NP_001041638.1:p.Arg409=
NP_001041639.1:p.Arg409=
NP_001121897.1:p.Arg437=
NP_001121897.1:p.Arg437=
NP_001280119.1:p.Arg424=
NP_001280120.1:p.Arg420=
NP_001280121.1:p.Arg317=
NP_001280124.1:p.Arg409=
NP_001280125.1:p.Arg317=
NP_001337579.1:p.Arg294=
NP_001337580.1:p.Arg294=
NP_036354.1:p.Arg434=
LRG_220t1:c.1311G>A
LRG_220:g.14039G>A
LRG_220p1:p.Arg437=
NC_000001.10:g.45797104C>T
NM_001048171.1:c.1269G>A
NM_001128425.1:c.1311G>A
NR_146882.2:n.1455G>A
NR_146883.2:n.1304G>A

Links:

dbSNP: rs199575659

NCBI 1000 Genomes Browser:

rs199575659

Molecular consequence:

NR_146882.2:n.1455G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1304G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001048171.2:c.1227G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001048172.2:c.1230G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001048173.2:c.1227G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001048174.2:c.1227G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001128425.2:c.1311G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001293190.2:c.1272G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001293191.2:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001293192.2:c.951G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001293195.2:c.1227G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001293196.2:c.951G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001350650.2:c.882G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001350651.2:c.882G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_012222.3:c.1302G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

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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Homo sapiens endothelin receptor type B (EDNRB), transcript variant 1, mRNA
Homo sapiens endothelin receptor type B (EDNRB), transcript variant 1, mRNA
gi|319655693|ref|NM_000115.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000639270	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Nov 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000794327	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely benign (Sep 21, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001135249	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV004828525	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Oct 2, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	108544	not provided	clinical testing
not provided	unknown	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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer.

Zhou XL, Djureinovic T, Werelius B, Lindmark G, Sun XF, Lindblom A; Swedish Low-Risk Colorectal Cancer Group..

Genet Test. 2005 Summer;9(2):147-51.

PubMed [citation]

PMID:: 15943555

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000639270.7

#	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

From Counsyl, SCV000794327.1

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

From Mendelics, SCV001135249.1

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

#	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 All of Us Research Program, National Institutes of Health, SCV004828525.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	108544	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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