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NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp) AND MYH-associated polyposis

Clinical significance:Pathogenic (Last evaluated: Oct 4, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000033940.3

Allele description

NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp)
HGVS:
  • NC_000001.11:g.45331240G>T
  • NG_008189.1:g.14231C>A
  • NM_001048171.1:c.1376C>A
  • NM_001048172.1:c.1337C>A
  • NM_001048173.1:c.1334C>A
  • NM_001048174.1:c.1334C>A
  • NM_001128425.1:c.1418C>A
  • NM_001293190.1:c.1379C>A
  • NM_001293191.1:c.1367C>A
  • NM_001293192.1:c.1058C>A
  • NM_001293195.1:c.1334C>A
  • NM_001293196.1:c.1058C>A
  • NM_001350650.1:c.989C>A
  • NM_001350651.1:c.989C>A
  • NM_012222.2:c.1409C>A
  • NP_001041636.1:p.Ala459Asp
  • NP_001041637.1:p.Ala446Asp
  • NP_001041638.1:p.Ala445Asp
  • NP_001041639.1:p.Ala445Asp
  • NP_001121897.1:p.Ala473Asp
  • NP_001280119.1:p.Ala460Asp
  • NP_001280120.1:p.Ala456Asp
  • NP_001280121.1:p.Ala353Asp
  • NP_001280124.1:p.Ala445Asp
  • NP_001280125.1:p.Ala353Asp
  • NP_001337579.1:p.Ala330Asp
  • NP_001337580.1:p.Ala330Asp
  • NP_036354.1:p.Ala470Asp
  • LRG_220t1:c.1418C>A
  • LRG_220:g.14231C>A
  • LRG_220p1:p.Ala473Asp
  • NC_000001.10:g.45796912G>T
  • NR_146882.1:n.1592C>A
  • NR_146883.1:n.1406C>A
Protein change:
A330D
Links:
dbSNP: rs200844166
NCBI 1000 Genomes Browser:
rs200844166
Molecular consequence:
  • NM_001048171.1:c.1376C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.1:c.1337C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.1:c.1334C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.1:c.1334C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.1418C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.1:c.1379C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.1:c.1367C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.1:c.1058C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.1:c.1334C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.1:c.1058C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.1:c.989C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.1:c.989C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.2:c.1409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.1:n.1592C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.1406C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
MYH-associated polyposis (FAP2)
Synonyms:
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; FAP type 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012041; MedGen: C3272841; Orphanet: 220460; OMIM: 608456

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000057868GeneReviewsno assertion criteria providedpathologic
(Oct 4, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000057868.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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