NM_001048174.2(MUTYH):c.512G>A (p.Gly171Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 2, 2017
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:: RCV000679430.5

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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RecName: Full=Carboxy-terminal domain RNA polymerase II polypeptide A small phos...
RecName: Full=Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2; AltName: Full=Nuclear LIM interactor-interacting factor 2; Short=NLI-interacting factor 2; AltName: Full=Protein OS-4; AltName: Full=Small C-terminal domain phosphatase 2; AltName: Full=Small CTD phosphatase 2; Short=SCP2
gi|55584145|sp|O14595.2|CTDS2_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000806363	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 2, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000806363

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 2, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000806363.1

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

#	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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