NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 2018
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:: RCV000765173.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)]

NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)

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.1409A>G (p.Gln470Arg)

Other names:

p.Q498R:CAG>CGG

HGVS:

NC_000001.11:g.45330541T>C
NG_008189.1:g.14930A>G
NM_001048171.2:c.1409A>G
NM_001048172.2:c.1412A>G
NM_001048173.2:c.1409A>G
NM_001048174.2:c.1409A>GMANE SELECT
NM_001128425.2:c.1493A>G
NM_001293190.2:c.1454A>G
NM_001293191.2:c.1442A>G
NM_001293192.2:c.1133A>G
NM_001293195.2:c.1409A>G
NM_001293196.2:c.1133A>G
NM_001350650.2:c.1064A>G
NM_001350651.2:c.1064A>G
NM_012222.3:c.1484A>G
NP_001041636.2:p.Gln470Arg
NP_001041637.1:p.Gln471Arg
NP_001041638.1:p.Gln470Arg
NP_001041639.1:p.Gln470Arg
NP_001121897.1:p.Gln498Arg
NP_001121897.1:p.Gln498Arg
NP_001280119.1:p.Gln485Arg
NP_001280120.1:p.Gln481Arg
NP_001280121.1:p.Gln378Arg
NP_001280124.1:p.Gln470Arg
NP_001280125.1:p.Gln378Arg
NP_001337579.1:p.Gln355Arg
NP_001337580.1:p.Gln355Arg
NP_036354.1:p.Gln495Arg
LRG_220t1:c.1493A>G
LRG_220:g.14930A>G
LRG_220p1:p.Gln498Arg
NC_000001.10:g.45796213T>C
NM_001128425.1:c.1493A>G
NR_146882.2:n.1637A>G
NR_146883.2:n.1486A>G
p.Q498R

Protein change:

Q355R

Links:

dbSNP: rs587780085

NCBI 1000 Genomes Browser:

rs587780085

Molecular consequence:

NM_001048171.2:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1412A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1493A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1454A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1442A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1637A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1486A>G - 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:: Pilomatrixoma (PTR)
Synonyms:: EPITHELIOMA CALCIFICANS OF MALHERBE; Pilomatricoma; Calcifying epithelioma of Malherbe; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007564; MeSH: D018296; MedGen: C0206711; Orphanet: 91414; OMIM: 132600; Human Phenotype Ontology: HP:0030434

Name:: Neoplasm of stomach
Synonyms:: Neoplasm of the stomach; Gastric neoplasm; Stomach Neoplasms
Identifiers:: MONDO: MONDO:0021085; MedGen: C0038356; Human Phenotype Ontology: HP:0006753

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GEO accession GSE188483 is currently private and is scheduled to be released on ...
GEO accession GSE188483 is currently private and is scheduled to be released on Nov 30, 2024.
GEO accession GSE188483 is currently private and is scheduled to be released on Nov 30, 2024.

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000896406	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 31, 2018)	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

SCV000896406

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 31, 2018)

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

PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000896406.1

#	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

ClinVar

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