NM_001128425.1(MUTYH):c.1323G>A (p.Glu441=) AND MYH-associated polyposis

Clinical significance:Uncertain significance (Last evaluated: Mar 13, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000462220.4

Allele description [Variation Report for NM_001128425.1(MUTYH):c.1323G>A (p.Glu441=)]

NM_001128425.1(MUTYH):c.1323G>A (p.Glu441=)

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.1323G>A (p.Glu441=)
HGVS:
  • NC_000001.11:g.45331420C>T
  • NG_008189.1:g.14051G>A
  • NM_001048171.1:c.1281G>A
  • NM_001048172.1:c.1242G>A
  • NM_001048173.1:c.1239G>A
  • NM_001048174.1:c.1239G>A
  • NM_001128425.1:c.1323G>A
  • NM_001293190.1:c.1284G>A
  • NM_001293191.1:c.1272G>A
  • NM_001293192.1:c.963G>A
  • NM_001293195.1:c.1239G>A
  • NM_001293196.1:c.963G>A
  • NM_001350650.1:c.894G>A
  • NM_001350651.1:c.894G>A
  • NM_012222.2:c.1314G>A
  • NP_001041636.1:p.Glu427=
  • NP_001041637.1:p.Glu414=
  • NP_001041638.1:p.Glu413=
  • NP_001041639.1:p.Glu413=
  • NP_001121897.1:p.Glu441=
  • NP_001280119.1:p.Glu428=
  • NP_001280120.1:p.Glu424=
  • NP_001280121.1:p.Glu321=
  • NP_001280124.1:p.Glu413=
  • NP_001280125.1:p.Glu321=
  • NP_001337579.1:p.Glu298=
  • NP_001337580.1:p.Glu298=
  • NP_036354.1:p.Glu438=
  • LRG_220t1:c.1323G>A
  • LRG_220:g.14051G>A
  • LRG_220p1:p.Glu441=
  • NC_000001.10:g.45797092C>T
  • NR_146882.1:n.1497G>A
  • NR_146883.1:n.1311G>A
  • p.E441E
Links:
dbSNP: rs587782564
NCBI 1000 Genomes Browser:
rs587782564
Molecular consequence:
  • NR_146882.1:n.1497G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.1311G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.1:c.1281G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048172.1:c.1242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048173.1:c.1239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048174.1:c.1239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128425.1:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293190.1:c.1284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293191.1:c.1272G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293192.1:c.963G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293195.1:c.1239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293196.1:c.963G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350650.1:c.894G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350651.1:c.894G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012222.2:c.1314G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000545729Invitaecriteria provided, single submitter
Uncertain significance
(Mar 13, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]
PMID:
17576681
PMCID:
PMC1934990

Statistical features of human exons and their flanking regions.

Zhang MQ.

Hum Mol Genet. 1998 May;7(5):919-32.

PubMed [citation]
PMID:
9536098
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000545729.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change affects codon 441 of the MUTYH mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MUTYH protein. This variant also falls at the last nucleotide of exon 13 of the MUTYH coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs587782564, ExAC 0.01%). This variant has not been reported in the literature in individuals with MUTYH-related disease. ClinVar contains an entry for this variant (Variation ID: 142583). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jun 25, 2021

Support Center