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NM_001048174.2(MUTYH):c.379-14G>A AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 24, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000443747.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.379-14G>A]

NM_001048174.2(MUTYH):c.379-14G>A

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.379-14G>A
HGVS:
  • NC_000001.11:g.45332973C>T
  • NG_008189.1:g.12498G>A
  • NM_001048171.2:c.379-14G>A
  • NM_001048172.2:c.382-14G>A
  • NM_001048173.2:c.379-14G>A
  • NM_001048174.2:c.379-14G>AMANE SELECT
  • NM_001128425.2:c.463-14G>A
  • NM_001293190.2:c.424-14G>A
  • NM_001293191.2:c.412-14G>A
  • NM_001293192.2:c.103-14G>A
  • NM_001293195.2:c.379-14G>A
  • NM_001293196.2:c.103-14G>A
  • NM_001350650.2:c.34-14G>A
  • NM_001350651.2:c.34-14G>A
  • NM_012222.3:c.454-14G>A
  • LRG_220t1:c.463-14G>A
  • LRG_220:g.12498G>A
  • NC_000001.10:g.45798645C>T
  • NM_001128425.1:c.463-14G>A
Links:
dbSNP: rs773394286
NCBI 1000 Genomes Browser:
rs773394286
Molecular consequence:
  • NM_001048171.2:c.379-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048172.2:c.382-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048173.2:c.379-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048174.2:c.379-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128425.2:c.463-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293190.2:c.424-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293191.2:c.412-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293192.2:c.103-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293195.2:c.379-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293196.2:c.103-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350650.2:c.34-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350651.2:c.34-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_012222.3:c.454-14G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000516643GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Dec 24, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000516643.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024