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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:
RCV000765173.1

Allele description

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000896406Fulgent Genetics,Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 31, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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, SCV000896406.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 29, 2022