NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) AND Ovarian carcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2019
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:: RCV001262769.9

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)]

NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)

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.1103G>A (p.Gly368Asp)

Other names:

p.G382D:GGT>GAT

HGVS:

NC_000001.11:g.45331556C>T
NG_008189.1:g.13915G>A
NM_001048171.2:c.1103G>A
NM_001048172.2:c.1106G>A
NM_001048173.2:c.1103G>A
NM_001048174.2:c.1103G>AMANE SELECT
NM_001128425.1:c.[1187G>A]
NM_001128425.2:c.1187G>A
NM_001293190.2:c.1148G>A
NM_001293191.2:c.1136G>A
NM_001293192.2:c.827G>A
NM_001293195.2:c.1103G>A
NM_001293196.2:c.827G>A
NM_001350650.2:c.758G>A
NM_001350651.2:c.758G>A
NM_012222.3:c.1178G>A
NP_001041636.1:p.Gly382Asp
NP_001041636.2:p.Gly368Asp
NP_001041637.1:p.Gly369Asp
NP_001041638.1:p.Gly368Asp
NP_001041639.1:p.Gly368Asp
NP_001121897.1:p.Gly396Asp
NP_001121897.1:p.Gly396Asp
NP_001280119.1:p.Gly383Asp
NP_001280120.1:p.Gly379Asp
NP_001280121.1:p.Gly276Asp
NP_001280121.1:p.Gly276Asp
NP_001280124.1:p.Gly368Asp
NP_001280125.1:p.Gly276Asp
NP_001337579.1:p.Gly253Asp
NP_001337580.1:p.Gly253Asp
NP_036354.1:p.Gly393Asp
NP_036354.1:p.Gly393Asp
LRG_220t1:c.[1187G>A]
LRG_220:g.13915G>A
NC_000001.10:g.45797228C>T
NM_001048171.1:c.1145G>A
NM_001048174.1:c.1103G>A
NM_001048174.2:c.1103G>A
NM_001128425.1:c.1187G>A
NM_001128425.1:c.[1187G>A]
NM_001128425.2:c.1187G>A
NM_001293192.1:c.827G>A
NM_012222.2:c.1178G>A
NR_146882.2:n.1331G>A
NR_146883.2:n.1180G>A

Protein change:

G253D; GLY382ASP

Links:

OMIM: 604933.0002; dbSNP: rs36053993

NCBI 1000 Genomes Browser:

rs36053993

Molecular consequence:

NM_001048171.2:c.1103G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1103G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1103G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.827G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1103G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.827G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.758G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.758G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1331G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1180G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Ovarian carcinoma
Identifiers:: MONDO: MONDO:0005140; MedGen: C4721610; Human Phenotype Ontology: HP:0025318

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001440759	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2019)	unknown	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

SCV001440759

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2019)

unknown

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	unknown	yes	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001440759.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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