NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) AND Endometrial carcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 15, 2007
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:: RCV000005900.3

Allele description [Variation Report for NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)]

NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)

Genes:

AREL1:apoptosis resistant E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
MLH3:mutL homolog 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)

HGVS:

NC_000014.9:g.75047435C>A
NG_008649.1:g.9098G>T
NM_001040108.2:c.2221G>TMANE SELECT
NM_014381.3:c.2221G>T
NP_001035197.1:p.Val741Phe
NP_001035197.1:p.Val741Phe
NP_055196.2:p.Val741Phe
LRG_217t1:c.2221G>T
LRG_217:g.9098G>T
LRG_217p1:p.Val741Phe
NC_000014.8:g.75514138C>A
NM_001040108.1:c.2221G>T
Q9UHC1:p.Val741Phe

Protein change:

V741F; VAL741PHE

Links:

UniProtKB: Q9UHC1#VAR_023347; OMIM: 604395.0007; dbSNP: rs28756990

NCBI 1000 Genomes Browser:

rs28756990

Molecular consequence:

NM_001040108.2:c.2221G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014381.3:c.2221G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Endometrial carcinoma
Synonyms:: Endometrial carcinoma, somatic
Identifiers:: MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026082	OMIM	no assertion criteria provided	Pathogenic (Jul 15, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12702580, 17656264

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026082

OMIM

no assertion criteria provided

Pathogenic
(Jul 15, 2007)

germline

literature only

PubMed (2)
[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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The role of hMLH3 in familial colorectal cancer.

Liu HX, Zhou XL, Liu T, Werelius B, Lindmark G, Dahl N, Lindblom A.

Cancer Res. 2003 Apr 15;63(8):1894-9.

PubMed [citation]

PMID:: 12702580

MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria.

Kim JC, Roh SA, Yoon YS, Kim HC, Park IJ.

Cancer Genet Cytogenet. 2007 Jul 15;176(2):172-4. No abstract available.

PubMed [citation]

PMID:: 17656264

Details of each submission

From OMIM, SCV000026082.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a mother and daughter with endometrial cancer (608089), Liu et al. (2003) identified a heterozygous 2221G-T transversion in exon 1 of the MLH3 gene, resulting in a val741-to-phe (V741F) substitution. An unaffected aunt, over the age of 80 years, also carried the mutation, indicating reduced penetrance. The mutation was not found in 95 controls.

Kim et al. (2007) identified a V741F mutation in a 71-year-old man with colon cancer (HNPCC7; 614385). His 2 sisters developed gastric cancer and breast cancer at ages 57 and 61, respectively. The authors suggested moderate penetrance for this variant.

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine