NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 23, 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:: RCV002478383.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)]

NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)

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.1166G>A (p.Arg389His)

HGVS:

NC_000001.11:g.45331493C>T
NG_008189.1:g.13978G>A
NM_001048171.2:c.1166G>A
NM_001048172.2:c.1169G>A
NM_001048173.2:c.1166G>A
NM_001048174.2:c.1166G>AMANE SELECT
NM_001128425.2:c.1250G>A
NM_001293190.2:c.1211G>A
NM_001293191.2:c.1199G>A
NM_001293192.2:c.890G>A
NM_001293195.2:c.1166G>A
NM_001293196.2:c.890G>A
NM_001350650.2:c.821G>A
NM_001350651.2:c.821G>A
NM_012222.3:c.1241G>A
NP_001041636.2:p.Arg389His
NP_001041637.1:p.Arg390His
NP_001041638.1:p.Arg389His
NP_001041639.1:p.Arg389His
NP_001121897.1:p.Arg417His
NP_001121897.1:p.Arg417His
NP_001280119.1:p.Arg404His
NP_001280120.1:p.Arg400His
NP_001280121.1:p.Arg297His
NP_001280124.1:p.Arg389His
NP_001280125.1:p.Arg297His
NP_001337579.1:p.Arg274His
NP_001337580.1:p.Arg274His
NP_036354.1:p.Arg414His
LRG_220t1:c.1250G>A
LRG_220:g.13978G>A
LRG_220p1:p.Arg417His
NC_000001.10:g.45797165C>T
NM_001128425.1:c.1250G>A
NR_146882.2:n.1394G>A
NR_146883.2:n.1243G>A
p.R417H

Protein change:

R274H

Links:

dbSNP: rs373803765

NCBI 1000 Genomes Browser:

rs373803765

Molecular consequence:

NM_001048171.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1250G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.890G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.890G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1394G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1243G>A - 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

Name:: Gastric cancer
Synonyms:: Stomach cancer; Malignant tumor of stomach
Identifiers:: MONDO: MONDO:0001056; MeSH: D013274; MedGen: C0024623; OMIM: 613659; Human Phenotype Ontology: HP:0012126

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002781383	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 23, 2022)	unknown	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

SCV002781383

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 23, 2022)

unknown

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	unknown	unknown	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 Fulgent Genetics, Fulgent Genetics, SCV002781383.1

#	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

Last Updated: Sep 29, 2024

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