NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(3);Uncertain significance(1) (Last evaluated: Feb 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000584863.7

Allele description [Variation Report for NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)]

NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
HGVS:
  • NC_000001.11:g.45331809C>T
  • NG_008189.1:g.13662G>A
  • NM_001048171.2:c.954G>A
  • NM_001048172.2:c.957G>A
  • NM_001048173.2:c.954G>A
  • NM_001048174.2:c.954G>AMANE SELECT
  • NM_001128425.1:c.1038G>A
  • NM_001128425.2:c.1038G>A
  • NM_001293190.2:c.999G>A
  • NM_001293191.2:c.987G>A
  • NM_001293192.2:c.678G>A
  • NM_001293195.2:c.954G>A
  • NM_001293196.2:c.678G>A
  • NM_001350650.2:c.609G>A
  • NM_001350651.2:c.609G>A
  • NM_012222.2:c.1029G>A
  • NM_012222.3:c.1029G>A
  • NP_001041636.2:p.Ser318=
  • NP_001041637.1:p.Ser319=
  • NP_001041638.1:p.Ser318=
  • NP_001041639.1:p.Ser318=
  • NP_001121897.1:p.Ser346=
  • NP_001121897.1:p.Ser346=
  • NP_001280119.1:p.Ser333=
  • NP_001280120.1:p.Ser329=
  • NP_001280121.1:p.Ser226=
  • NP_001280124.1:p.Ser318=
  • NP_001280125.1:p.Ser226=
  • NP_001337579.1:p.Ser203=
  • NP_001337580.1:p.Ser203=
  • NP_036354.1:p.Ser343=
  • NP_036354.1:p.Ser343=
  • LRG_220t1:c.1038G>A
  • LRG_220:g.13662G>A
  • LRG_220p1:p.Ser346=
  • NC_000001.10:g.45797481C>T
  • NR_146882.2:n.1182G>A
  • NR_146883.2:n.1031G>A
  • p.S346S
  • p.Ser343Ser
Links:
dbSNP: rs372673338
NCBI 1000 Genomes Browser:
rs372673338
Molecular consequence:
  • NR_146882.2:n.1182G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1031G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.2:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048172.2:c.957G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048173.2:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048174.2:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128425.1:c.1038G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128425.2:c.1038G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293190.2:c.999G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293191.2:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293192.2:c.678G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293195.2:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293196.2:c.678G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350650.2:c.609G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350651.2:c.609G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012222.2:c.1029G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012222.3:c.1029G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000321910GeneDxcriteria provided, single submitter
Likely pathogenic
(Mar 26, 2020)
germlineclinical testing

Citation Link,

SCV000692628CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Aug 1, 2017)
germlineclinical testing

Citation Link,

SCV000889517Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Jan 9, 2019)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001480054Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Likely pathogenic
(Feb 1, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
not providedgermlineunknownnot 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

Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.

Kairupan CF, Meldrum CJ, Crooks R, Milward EA, Spigelman AD, Burgess B, Groombridge C, Kirk J, Tucker K, Ward R, Williams R, Scott RJ.

Int J Cancer. 2005 Aug 10;116(1):73-7.

PubMed [citation]
PMID:
15761860
See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000321910.9

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

Description

Splice variant demonstrated to result in the creation of novel splice acceptor site which may result in the deletion of 14 amino acids of exon 12 (Thibodeau 2019); This variant is associated with the following publications: (PMID: 15761860, 17949294, 26269718, 25525159, 21520333, 30833417)

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000692628.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889517.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001480054.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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