NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 17, 2015
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:: RCV000216838.1

Allele description

NM_000249.3(MLH1):c.583A>T (p.Lys195Ter)

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.3(MLH1):c.583A>T (p.Lys195Ter)

HGVS:

NC_000003.12:g.37011857A>T
NG_007109.2:g.23508A>T
NM_000249.3:c.583A>T
NM_001167618.1:c.-141A>T
NP_000240.1:p.Lys195Ter
LRG_216t1:c.583A>T
LRG_216:g.23508A>T
LRG_216p1:p.Lys195Ter
NC_000003.11:g.37053348A>T

Protein change:

K195*

Links:

dbSNP: rs863225383

NCBI 1000 Genomes Browser:

rs863225383

Molecular consequence:

NM_001167618.1:c.-141A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.3:c.583A>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000278462	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (Sep 17, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24456667, 25477341 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000278462

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(Sep 17, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1.

Hinrichsen I, Ernst BP, Nuber F, Passmann S, Schäfer D, Steinke V, Friedrichs N, Plotz G, Zeuzem S, Brieger A.

Mol Cancer. 2014 Jan 24;13:11. doi: 10.1186/1476-4598-13-11.

PubMed [citation]

PMID:: 24456667
PMCID:: PMC3904401

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

Hinrichsen I, Schäfer D, Langer D, Köger N, Wittmann M, Aretz S, Steinke V, Holzapfel S, Trojan J, König R, Zeuzem S, Brieger A, Plotz G.

Carcinogenesis. 2015 Feb;36(2):202-11. doi: 10.1093/carcin/bgu239. Epub 2014 Dec 4.

PubMed [citation]

PMID:: 25477341

Details of each submission

From Ambry Genetics, SCV000278462.4

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

Description

Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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

Last Updated: Apr 17, 2019

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