NM_000249.4(MLH1):c.175dup (p.Ile59fs) AND Lynch syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 5, 2013
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000075356.4

Allele description [Variation Report for NM_000249.4(MLH1):c.175dup (p.Ile59fs)]

NM_000249.4(MLH1):c.175dup (p.Ile59fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.175dup (p.Ile59fs)

HGVS:

NC_000003.12:g.36996677dup
NG_007109.2:g.8328dup
NG_008418.1:g.1628dup
NM_000249.4:c.175dupMANE SELECT
NM_001167617.3:c.-115dup
NM_001167618.3:c.-549dup
NM_001167619.3:c.-457dup
NM_001258271.2:c.175dup
NM_001258273.2:c.-517+3014dup
NM_001258274.3:c.-694dup
NM_001354615.2:c.-452dup
NM_001354616.2:c.-457dup
NM_001354617.2:c.-549dup
NM_001354618.2:c.-549dup
NM_001354619.2:c.-549dup
NM_001354620.2:c.-115dup
NM_001354621.2:c.-642dup
NM_001354622.2:c.-755dup
NM_001354623.2:c.-723+2787dup
NM_001354624.2:c.-652dup
NM_001354625.2:c.-555dup
NM_001354626.2:c.-652dup
NM_001354627.2:c.-652dup
NM_001354628.2:c.175dup
NM_001354629.2:c.175dup
NM_001354630.2:c.175dup
NP_000240.1:p.Ile59fs
NP_001245200.1:p.Ile59fs
NP_001341557.1:p.Ile59fs
NP_001341558.1:p.Ile59fs
NP_001341559.1:p.Ile59fs
LRG_216:g.8328dup
NC_000003.11:g.37038168dup

Protein change:

I59fs

Links:

dbSNP: rs587778944

NCBI 1000 Genomes Browser:

rs587778944

Molecular consequence:

NM_001167617.3:c.-115dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-549dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-457dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-694dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-452dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-457dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-549dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-549dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-549dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-115dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-642dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-755dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-652dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-555dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-652dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-652dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258273.2:c.-517+3014dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-723+2787dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Lynch syndrome
Identifiers:: MONDO: MONDO:0005835; MedGen: C4552100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000106350	International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	reviewed by expert panel (Guidelines v1.9)	Pathogenic (Sep 5, 2013)	germline	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000106350

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

Pathogenic
(Sep 5, 2013)

germline

research

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	research

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000106350.3

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

Description

Coding sequence variation resulting in a stop codon

#	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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