NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) AND Carcinoma of colon

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 24, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000144634.1

Allele description

NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)

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.930G>C (p.Gln310His)

HGVS:

NC_000001.11:g.45331833C>G
NG_008189.1:g.13638G>C
NM_001048171.2:c.930G>C
NM_001048172.2:c.933G>C
NM_001048173.2:c.930G>C
NM_001048174.2:c.930G>CMANE SELECT
NM_001128425.2:c.1014G>C
NM_001293190.2:c.975G>C
NM_001293191.2:c.963G>C
NM_001293192.2:c.654G>C
NM_001293195.2:c.930G>C
NM_001293196.2:c.654G>C
NM_001350650.2:c.585G>C
NM_001350651.2:c.585G>C
NM_012222.3:c.1005G>C
NP_001041636.1:p.Gln324His
NP_001041636.2:p.Gln310His
NP_001041637.1:p.Gln311His
NP_001041638.1:p.Gln310His
NP_001041639.1:p.Gln310His
NP_001121897.1:p.Gln338His
NP_001121897.1:p.Gln338His
NP_001280119.1:p.Gln325His
NP_001280120.1:p.Gln321His
NP_001280121.1:p.Gln218His
NP_001280124.1:p.Gln310His
NP_001280125.1:p.Gln218His
NP_001337579.1:p.Gln195His
NP_001337580.1:p.Gln195His
NP_036354.1:p.Gln335His
LRG_220t1:c.1014G>C
LRG_220:g.13638G>C
LRG_220p1:p.Gln338His
NC_000001.10:g.45797505C>G
NM_001048171.1:c.972G>C
NM_001128425.1:c.1014G>C
NR_146882.2:n.1158G>C
NR_146883.2:n.1007G>C
p.Q338H

Protein change:

Q195H

Links:

dbSNP: rs3219489

NCBI 1000 Genomes Browser:

rs3219489

Molecular consequence:

NM_001048171.2:c.930G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.933G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.930G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.930G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1014G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.975G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.654G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.930G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.654G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.585G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.585G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1005G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1158G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1007G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Carcinoma of colon (CRC)
Synonyms:: Colonic carcinoma; Colon carcinoma
Identifiers:: MONDO: MONDO:0002032; MedGen: C0699790

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189961	Pathway Genomics	no assertion criteria provided	Benign (Jul 24, 2014)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24039736, 18271935, 22922830

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189961

Pathway Genomics

no assertion criteria provided

Benign
(Jul 24, 2014)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.

Picelli S, Lorenzo Bermejo J, Chang-Claude J, Hoffmeister M, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S; Memebers of EPICOLON Consortium-Gastrointestinal Oncology Group of the Spanish Gastroenterological Association., Naccarati A, Pardini B, Vodickova L, Müller H, Talseth-Palmer BA, Stibbard G, Peterlongo P, Nici C, Veneroni S, Li L, Casey G, Tenesa A, Farrington SM, et al.

PLoS One. 2013;8(9):e72091. doi: 10.1371/journal.pone.0072091.

PubMed [citation]

PMID:: 24039736
PMCID:: PMC3765450

Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population.

Tao H, Shinmura K, Suzuki M, Kono S, Mibu R, Tanaka M, Kakeji Y, Maehara Y, Okamura T, Ikejiri K, Futami K, Yasunami Y, Maekawa T, Takenaka K, Ichimiya H, Imaizumi N, Sugimura H.

Cancer Sci. 2008 Feb;99(2):355-60. doi: 10.1111/j.1349-7006.2007.00694.x.

PubMed [citation]

PMID:: 18271935

See all PubMed Citations (3)

Details of each submission

From Pathway Genomics, SCV000189961.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: Jun 18, 2022

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