NM_001048171.1(MUTYH):c.62C>T (p.Ala21Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Mar 19, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_001048171.1(MUTYH):c.62C>T (p.Ala21Val)]

NM_001048171.1(MUTYH):c.62C>T (p.Ala21Val)

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001048171.1(MUTYH):c.62C>T (p.Ala21Val)
  • NC_000001.11:g.45334486G>A
  • NG_008189.1:g.10985C>T
  • NM_001048171.1:c.62C>T
  • NM_001048172.1:c.20C>T
  • NM_001048173.1:c.20C>T
  • NM_001048174.1:c.20C>T
  • NM_001128425.1:c.62C>T
  • NM_001293190.1:c.62C>T
  • NM_001293191.1:c.20C>T
  • NM_001293192.1:c.-193C>T
  • NM_001293195.1:c.20C>T
  • NM_001293196.1:c.-193C>T
  • NM_001350650.1:c.-252C>T
  • NM_001350651.1:c.-188C>T
  • NM_012222.2:c.62C>T
  • NP_001041636.1:p.Ala21Val
  • NP_001041637.1:p.Ala7Val
  • NP_001041638.1:p.Ala7Val
  • NP_001041639.1:p.Ala7Val
  • NP_001121897.1:p.Ala21Val
  • NP_001280119.1:p.Ala21Val
  • NP_001280120.1:p.Ala7Val
  • NP_001280124.1:p.Ala7Val
  • NP_036354.1:p.Ala21Val
  • LRG_220t1:c.62C>T
  • LRG_220:g.10985C>T
  • LRG_220p1:p.Ala21Val
  • NC_000001.10:g.45800158G>A
  • NR_146882.1:n.278C>T
  • NR_146883.1:n.166C>T
Protein change:
dbSNP: rs1057517460
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001293192.1:c.-193C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.1:c.-193C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.1:c.-252C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.1:c.-188C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001048171.1:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.1:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.1:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.1:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.1:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.1:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.1:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.2:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.1:n.278C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.166C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Hereditary cancer-predisposing syndrome
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000666476Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 19, 2019)
germlineclinical testing

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

Citation Link,

SCV001340193Color Health, Inccriteria provided, single submitter
Uncertain significance
(Feb 27, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing



Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

Olschwang S, Blanché H, de Moncuit C, Thomas G.

Genet Test. 2007 Fall;11(3):315-20.

PubMed [citation]

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]

Details of each submission

From Ambry Genetics, SCV000666476.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)


The p.A21V variant (also known as c.62C>T), located in coding exon 2 of the MUTYH gene, results from a C to T substitution at nucleotide position 62. The alanine at codon 21 is replaced by valine, an amino acid with similar properties. This alteration was reported (referred to as c.61C>T) in an individual from a cohort of APC negative individuals with more than 5 colorectal adenomas (Olschwang S et al. Genet. Test., 2007;11:315-20). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV001340193.1

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

Last Updated: Jun 25, 2021

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