NM_001048174.2(MUTYH):c.512G>A (p.Gly171Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 18, 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:: RCV002352098.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.512G>A (p.Gly171Asp)]

NM_001048174.2(MUTYH):c.512G>A (p.Gly171Asp)

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.512G>A (p.Gly171Asp)

HGVS:

NC_000001.11:g.45332668C>T
NG_008189.1:g.12803G>A
NM_001048171.2:c.512G>A
NM_001048172.2:c.515G>A
NM_001048173.2:c.512G>A
NM_001048174.2:c.512G>AMANE SELECT
NM_001128425.2:c.596G>A
NM_001293190.2:c.557G>A
NM_001293191.2:c.545G>A
NM_001293192.2:c.236G>A
NM_001293195.2:c.512G>A
NM_001293196.2:c.236G>A
NM_001350650.2:c.167G>A
NM_001350651.2:c.167G>A
NM_012222.3:c.587G>A
NP_001041636.2:p.Gly171Asp
NP_001041637.1:p.Gly172Asp
NP_001041638.1:p.Gly171Asp
NP_001041639.1:p.Gly171Asp
NP_001121897.1:p.Gly199Asp
NP_001121897.1:p.Gly199Asp
NP_001280119.1:p.Gly186Asp
NP_001280120.1:p.Gly182Asp
NP_001280121.1:p.Gly79Asp
NP_001280124.1:p.Gly171Asp
NP_001280125.1:p.Gly79Asp
NP_001337579.1:p.Gly56Asp
NP_001337580.1:p.Gly56Asp
NP_036354.1:p.Gly196Asp
LRG_220t1:c.596G>A
LRG_220:g.12803G>A
LRG_220p1:p.Gly199Asp
NC_000001.10:g.45798340C>T
NM_001128425.1:c.596G>A
NR_146882.2:n.740G>A
NR_146883.2:n.589G>A

Protein change:

G171D

Links:

dbSNP: rs1263648272

NCBI 1000 Genomes Browser:

rs1263648272

Molecular consequence:

NM_001048171.2:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.596G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.545G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.236G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.236G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.740G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.589G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Homo sapiens RAS p21 protein activator 4, mRNA (cDNA clone MGC:177112 IMAGE:9052...
Homo sapiens RAS p21 protein activator 4, mRNA (cDNA clone MGC:177112 IMAGE:9052095), complete cds
gi|219520340|gb|BC143584.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002658620	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 18, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002658620

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 18, 2020)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002658620.2

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

Description

The p.G199D variant (also known as c.596G>A), located in coding exon 8 of the MUTYH gene, results from a G to A substitution at nucleotide position 596. The glycine at codon 199 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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