NM_000249.4(MLH1):c.201del (p.Ile68fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 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:: RCV000576150.3

Allele description [Variation Report for NM_000249.4(MLH1):c.201del (p.Ile68fs)]

NM_000249.4(MLH1):c.201del (p.Ile68fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.201del (p.Ile68fs)

HGVS:

NC_000003.12:g.36996703del
NG_007109.2:g.8354del
NG_008418.1:g.1604del
NM_000249.4:c.201delMANE SELECT
NM_001167617.3:c.-89del
NM_001167618.3:c.-523del
NM_001167619.3:c.-431del
NM_001258271.2:c.201del
NM_001258273.2:c.-517+3040del
NM_001258274.3:c.-668del
NM_001354615.2:c.-426del
NM_001354616.2:c.-431del
NM_001354617.2:c.-523del
NM_001354618.2:c.-523del
NM_001354619.2:c.-523del
NM_001354620.2:c.-89del
NM_001354621.2:c.-616del
NM_001354622.2:c.-729del
NM_001354623.2:c.-723+2813del
NM_001354624.2:c.-626del
NM_001354625.2:c.-529del
NM_001354626.2:c.-626del
NM_001354627.2:c.-626del
NM_001354628.2:c.201del
NM_001354629.2:c.201del
NM_001354630.2:c.201del
NP_000240.1:p.Ile68fs
NP_001245200.1:p.Ile68fs
NP_001341557.1:p.Ile68fs
NP_001341558.1:p.Ile68fs
NP_001341559.1:p.Ile68fs
LRG_216:g.8354del
NC_000003.11:g.37038194del
NM_000249.3:c.201delG

Protein change:

I68fs

Links:

dbSNP: rs587778968

NCBI 1000 Genomes Browser:

rs587778968

Molecular consequence:

NM_001167617.3:c.-89del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-523del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-431del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-668del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-426del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-431del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-523del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-523del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-523del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-89del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-616del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-729del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-626del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-529del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-626del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-626del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258273.2:c.-517+3040del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-723+2813del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000676061	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 9, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000676061

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 9, 2017)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV000676061.5

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

Description

The c.201delG pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a deletion of one nucleotide at position 201, causing a translational frameshift with a predicted alternate stop codon (p.I68Sfs*24). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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 7, 2024

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