NM_001048174.2(MUTYH):c.1392+7C>T AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1392+7C>T]


MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
  • NC_000001.11:g.45331175G>A
  • NG_008189.1:g.14296C>T
  • NM_001048171.2:c.1392+7C>T
  • NM_001048172.1:c.1395+7C>T
  • NM_001048173.1:c.1392+7C>T
  • NM_001048174.2:c.1392+7C>TMANE SELECT
  • NM_001128425.2:c.1476+7C>T
  • NM_001293190.1:c.1437+7C>T
  • NM_001293191.1:c.1425+7C>T
  • NM_001293192.1:c.1116+7C>T
  • NM_001293195.1:c.1392+7C>T
  • NM_001293196.1:c.1116+7C>T
  • NM_001350650.1:c.1047+7C>T
  • NM_001350651.1:c.1047+7C>T
  • NM_012222.2:c.1467+7C>T
  • LRG_220t1:c.1476+7C>T
  • LRG_220:g.14296C>T
  • NC_000001.10:g.45796847G>A
  • NM_001128425.1:c.1476+7C>T
dbSNP: rs1570361183
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001048171.2:c.1392+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048172.1:c.1395+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048173.1:c.1392+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048174.2:c.1392+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128425.2:c.1476+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293190.1:c.1437+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293191.1:c.1425+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293192.1:c.1116+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293195.1:c.1392+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293196.1:c.1116+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350650.1:c.1047+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350651.1:c.1047+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_012222.2:c.1467+7C>T - intron variant - [Sequence Ontology: SO:0001627]


MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001442794Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Oct 9, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001442794.1

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


Variant summary: MUTYH c.1476+7C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251486 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1476+7C>T in individuals affected with MUTYH-Associated Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jun 25, 2021

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