NM_012222.2(MUTYH):c.129C>T (p.Asn43=) AND MYH-associated polyposis

Clinical significance:Likely benign (Last evaluated: Dec 8, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000227327.7

Allele description [Variation Report for NM_012222.2(MUTYH):c.129C>T (p.Asn43=)]

NM_012222.2(MUTYH):c.129C>T (p.Asn43=)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_012222.2(MUTYH):c.129C>T (p.Asn43=)
HGVS:
  • NC_000001.11:g.45334419G>A
  • NG_008189.1:g.11052C>T
  • NM_001048171.1:c.129C>T
  • NM_001048172.1:c.87C>T
  • NM_001048173.1:c.87C>T
  • NM_001048174.1:c.87C>T
  • NM_001128425.1:c.129C>T
  • NM_001293190.1:c.129C>T
  • NM_001293191.1:c.87C>T
  • NM_001293192.1:c.-126C>T
  • NM_001293195.1:c.87C>T
  • NM_001293196.1:c.-126C>T
  • NM_001350650.1:c.-185C>T
  • NM_001350651.1:c.-121C>T
  • NM_012222.2:c.129C>T
  • NP_001041636.1:p.Asn43=
  • NP_001041637.1:p.Asn29=
  • NP_001041638.1:p.Asn29=
  • NP_001041639.1:p.Asn29=
  • NP_001121897.1:p.Asn43=
  • NP_001280119.1:p.Asn43=
  • NP_001280120.1:p.Asn29=
  • NP_001280124.1:p.Asn29=
  • NP_036354.1:p.Asn43=
  • LRG_220t1:c.129C>T
  • LRG_220:g.11052C>T
  • LRG_220p1:p.Asn43=
  • NC_000001.10:g.45800091G>A
  • NR_146882.1:n.345C>T
  • NR_146883.1:n.233C>T
  • p.N43N
Links:
dbSNP: rs141679570
NCBI 1000 Genomes Browser:
rs141679570
Molecular consequence:
  • NM_001293192.1:c.-126C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.1:c.-126C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.1:c.-185C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.1:c.-121C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_146882.1:n.345C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.233C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048172.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048173.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048174.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128425.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293190.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293191.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293195.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012222.2:c.129C>T - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000285923Invitaecriteria provided, single submitter
Likely benign
(Dec 8, 2020)
germlineclinical testing

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

SCV000487379Counsylcriteria provided, single submitter
Likely benign
(Sep 16, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000285923.7

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

From Counsyl, SCV000487379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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