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NM_001048174.2(MUTYH):c.1161T>C (p.Leu387=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 29, 2020
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:
RCV001264534.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1161T>C (p.Leu387=)]

NM_001048174.2(MUTYH):c.1161T>C (p.Leu387=)

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.1161T>C (p.Leu387=)
HGVS:
  • NC_000001.11:g.45331498A>G
  • NG_008189.1:g.13973T>C
  • NM_001048171.2:c.1161T>C
  • NM_001048172.2:c.1164T>C
  • NM_001048173.2:c.1161T>C
  • NM_001048174.2:c.1161T>CMANE SELECT
  • NM_001128425.2:c.1245T>C
  • NM_001293190.2:c.1206T>C
  • NM_001293191.2:c.1194T>C
  • NM_001293192.2:c.885T>C
  • NM_001293195.2:c.1161T>C
  • NM_001293196.2:c.885T>C
  • NM_001350650.2:c.816T>C
  • NM_001350651.2:c.816T>C
  • NM_012222.3:c.1236T>C
  • NP_001041636.2:p.Leu387=
  • NP_001041637.1:p.Leu388=
  • NP_001041638.1:p.Leu387=
  • NP_001041639.1:p.Leu387=
  • NP_001121897.1:p.Leu415=
  • NP_001280119.1:p.Leu402=
  • NP_001280120.1:p.Leu398=
  • NP_001280121.1:p.Leu295=
  • NP_001280124.1:p.Leu387=
  • NP_001280125.1:p.Leu295=
  • NP_001337579.1:p.Leu272=
  • NP_001337580.1:p.Leu272=
  • NP_036354.1:p.Leu412=
  • LRG_220t1:c.1245T>C
  • LRG_220:g.13973T>C
  • NC_000001.10:g.45797170A>G
  • NM_001128425.1:c.1245T>C
  • NR_146882.2:n.1389T>C
  • NR_146883.2:n.1238T>C
Links:
dbSNP: rs550693666
NCBI 1000 Genomes Browser:
rs550693666
Molecular consequence:
  • NR_146882.2:n.1389T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1238T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.2:c.1161T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048172.2:c.1164T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048173.2:c.1161T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048174.2:c.1161T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128425.2:c.1245T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293190.2:c.1206T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293191.2:c.1194T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293192.2:c.885T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293195.2:c.1161T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293196.2:c.885T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350650.2:c.816T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350651.2:c.816T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012222.3:c.1236T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442738Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Oct 29, 2020) 		germlineclinical testing

Citation Link

Help

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, SCV001442738.1

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

Last Updated: Sep 29, 2024