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NM_001048174.2(MUTYH):c.1490G>A (p.Gly497Asp) AND Familial adenomatous polyposis 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 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:
RCV002292254.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1490G>A (p.Gly497Asp)]

NM_001048174.2(MUTYH):c.1490G>A (p.Gly497Asp)

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.1490G>A (p.Gly497Asp)
HGVS:
  • NC_000001.11:g.45329382C>T
  • NG_008189.1:g.16089G>A
  • NM_001048171.2:c.1490G>A
  • NM_001048172.2:c.1493G>A
  • NM_001048173.2:c.1490G>A
  • NM_001048174.2:c.1490G>AMANE SELECT
  • NM_001128425.2:c.1574G>A
  • NM_001293190.2:c.1535G>A
  • NM_001293191.2:c.1523G>A
  • NM_001293192.2:c.1214G>A
  • NM_001293195.2:c.1490G>A
  • NM_001293196.2:c.1214G>A
  • NM_001350650.2:c.1145G>A
  • NM_001350651.2:c.1145G>A
  • NM_001407069.1:c.1523G>A
  • NM_001407070.1:c.1490G>A
  • NM_001407071.1:c.1493G>A
  • NM_001407072.1:c.1490G>A
  • NM_001407073.1:c.1490G>A
  • NM_001407075.1:c.1406G>A
  • NM_001407077.1:c.1523G>A
  • NM_001407078.1:c.1493G>A
  • NM_001407079.1:c.1451G>A
  • NM_001407080.1:c.1448G>A
  • NM_001407081.1:c.1490G>A
  • NM_001407082.1:c.1145G>A
  • NM_001407083.1:c.1532G>A
  • NM_001407085.1:c.1532G>A
  • NM_001407086.1:c.1493G>A
  • NM_001407087.1:c.1511G>A
  • NM_001407088.1:c.1490G>A
  • NM_001407089.1:c.1490G>A
  • NM_001407091.1:c.1214G>A
  • NM_012222.3:c.1565G>A
  • NP_001041636.2:p.Gly497Asp
  • NP_001041637.1:p.Gly498Asp
  • NP_001041638.1:p.Gly497Asp
  • NP_001041639.1:p.Gly497Asp
  • NP_001121897.1:p.Gly525Asp
  • NP_001121897.1:p.Gly525Asp
  • NP_001280119.1:p.Gly512Asp
  • NP_001280120.1:p.Gly508Asp
  • NP_001280121.1:p.Gly405Asp
  • NP_001280124.1:p.Gly497Asp
  • NP_001280125.1:p.Gly405Asp
  • NP_001337579.1:p.Gly382Asp
  • NP_001337580.1:p.Gly382Asp
  • NP_001393998.1:p.Gly508Asp
  • NP_001393999.1:p.Gly497Asp
  • NP_001394000.1:p.Gly498Asp
  • NP_001394001.1:p.Gly497Asp
  • NP_001394002.1:p.Gly497Asp
  • NP_001394004.1:p.Gly469Asp
  • NP_001394006.1:p.Gly508Asp
  • NP_001394007.1:p.Gly498Asp
  • NP_001394008.1:p.Gly484Asp
  • NP_001394009.1:p.Gly483Asp
  • NP_001394010.1:p.Gly497Asp
  • NP_001394011.1:p.Gly382Asp
  • NP_001394012.1:p.Gly511Asp
  • NP_001394014.1:p.Gly511Asp
  • NP_001394015.1:p.Gly498Asp
  • NP_001394016.1:p.Gly504Asp
  • NP_001394017.1:p.Gly497Asp
  • NP_001394018.1:p.Gly497Asp
  • NP_001394020.1:p.Gly405Asp
  • NP_036354.1:p.Gly522Asp
  • LRG_220t1:c.1574G>A
  • LRG_220:g.16089G>A
  • LRG_220p1:p.Gly525Asp
  • NC_000001.10:g.45795054C>T
  • NM_001128425.1:c.1574G>A
  • NR_146882.2:n.1898G>A
  • NR_146883.2:n.1747G>A
  • NR_176269.1:n.1894G>A
  • NR_176270.1:n.1834G>A
  • NR_176271.1:n.1757G>A
  • NR_176272.1:n.1821G>A
  • NR_176273.1:n.1779G>A
  • NR_176274.1:n.1834G>A
Protein change:
G382D
Molecular consequence:
  • NM_001048171.2:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.1493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.1574G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.1523G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.1214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.1214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.2:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.2:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407069.1:c.1523G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407070.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407071.1:c.1493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407072.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407073.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407075.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407077.1:c.1523G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407078.1:c.1493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407079.1:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407080.1:c.1448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407081.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407082.1:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407083.1:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407085.1:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407086.1:c.1493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407087.1:c.1511G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407088.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407089.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407091.1:c.1214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.1565G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.1898G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1747G>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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002584753St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Jul 18, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV002584753.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MUYTH c.1574G>A (p.Gly525Asp) missense variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/ ). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with MUTYH-associated polyposis. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024