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NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Oct 5, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000656906.19

Allele description [Variation Report for NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)]

NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)

Genes:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
TOE1:target of EGR1, exonuclease [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)
Other names:
p.S6Y:TCC>TAC
HGVS:
  • NC_000001.11:g.45340238G>T
  • NG_008189.1:g.5233C>A
  • NG_090899.1:g.847G>T
  • NG_090900.1:g.179G>T
  • NM_001048171.2:c.-26C>A
  • NM_001128425.2:c.17C>A
  • NM_001293190.2:c.17C>A
  • NM_001293192.2:c.-238C>A
  • NM_001350650.2:c.-297C>A
  • NM_001350651.2:c.-233C>A
  • NM_001407069.1:c.17C>A
  • NM_001407070.1:c.-42C>A
  • NM_001407071.1:c.-42C>A
  • NM_001407072.1:c.-22C>A
  • NM_001407073.1:c.17C>A
  • NM_012222.3:c.17C>A
  • NM_025077.4:c.-15G>TMANE SELECT
  • NP_001121897.1:p.Ser6Tyr
  • NP_001121897.1:p.Ser6Tyr
  • NP_001280119.1:p.Ser6Tyr
  • NP_001393998.1:p.Ser6Tyr
  • NP_001394002.1:p.Ser6Tyr
  • NP_036354.1:p.Ser6Tyr
  • LRG_220t1:c.17C>A
  • LRG_220:g.5233C>A
  • LRG_220p1:p.Ser6Tyr
  • NC_000001.10:g.45805910G>T
  • NM_001048171.1:c.17C>A
  • NM_001128425.1:c.17C>A
  • NR_146882.2:n.203C>A
  • NR_176269.1:n.203C>A
  • NR_176274.1:n.203C>A
  • p.S6Y
Protein change:
S6Y
Links:
dbSNP: rs587782837
NCBI 1000 Genomes Browser:
rs587782837
Molecular consequence:
  • NM_001048171.2:c.-26C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293192.2:c.-238C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.2:c.-297C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.2:c.-233C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407070.1:c.-42C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407071.1:c.-42C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407072.1:c.-22C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_025077.4:c.-15G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001128425.2:c.17C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.17C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407069.1:c.17C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407073.1:c.17C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.17C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.203C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176269.1:n.203C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176274.1:n.203C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000211397GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Oct 5, 2023)
germlineclinical testing

Citation Link,

SCV001470569Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Uncertain significance
(Feb 13, 2023)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]
PMID:
25186627

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000211397.15

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Identified in individuals with breast or other cancers (PMID: 27720647, 25186627); This variant is associated with the following publications: (PMID: 23108399, 25186627, 27720647)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470569.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The frequency of this variant in the general population, 0.00076 (27/35360 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in an individual with breast cancer (PMID: 25186627 (2015)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Oct 8, 2024