NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 8, 2021
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:: RCV001582599.6

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)]

NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)

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.1166G>A (p.Arg389His)

HGVS:

NC_000001.11:g.45331493C>T
NG_008189.1:g.13978G>A
NM_001048171.2:c.1166G>A
NM_001048172.2:c.1169G>A
NM_001048173.2:c.1166G>A
NM_001048174.2:c.1166G>AMANE SELECT
NM_001128425.2:c.1250G>A
NM_001293190.2:c.1211G>A
NM_001293191.2:c.1199G>A
NM_001293192.2:c.890G>A
NM_001293195.2:c.1166G>A
NM_001293196.2:c.890G>A
NM_001350650.2:c.821G>A
NM_001350651.2:c.821G>A
NM_012222.3:c.1241G>A
NP_001041636.2:p.Arg389His
NP_001041637.1:p.Arg390His
NP_001041638.1:p.Arg389His
NP_001041639.1:p.Arg389His
NP_001121897.1:p.Arg417His
NP_001121897.1:p.Arg417His
NP_001280119.1:p.Arg404His
NP_001280120.1:p.Arg400His
NP_001280121.1:p.Arg297His
NP_001280124.1:p.Arg389His
NP_001280125.1:p.Arg297His
NP_001337579.1:p.Arg274His
NP_001337580.1:p.Arg274His
NP_036354.1:p.Arg414His
LRG_220t1:c.1250G>A
LRG_220:g.13978G>A
LRG_220p1:p.Arg417His
NC_000001.10:g.45797165C>T
NM_001128425.1:c.1250G>A
NR_146882.2:n.1394G>A
NR_146883.2:n.1243G>A
p.R417H

Protein change:

R274H

Links:

dbSNP: rs373803765

NCBI 1000 Genomes Browser:

rs373803765

Molecular consequence:

NM_001048171.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1250G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.890G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.890G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1394G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1243G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|193787811|dbj|BAG53014.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001818978	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 8, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001818978

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 8, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001818978.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23108399)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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