NM_000249.4(MLH1):c.39_40dup (p.Thr14fs) 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:: RCV000075699.4

Allele description [Variation Report for NM_000249.4(MLH1):c.39_40dup (p.Thr14fs)]

NM_000249.4(MLH1):c.39_40dup (p.Thr14fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.39_40dup (p.Thr14fs)

HGVS:

NC_000003.12:g.36993584GA[3]
NG_007109.2:g.5235GA[3]
NG_008418.1:g.4718TC[3]
NM_000249.4:c.39_40dupMANE SELECT
NM_001167617.3:c.-480GA[3]
NM_001167618.3:c.-909GA[3]
NM_001167619.3:c.-822GA[3]
NM_001258271.2:c.39_40dup
NM_001258273.2:c.-596GA[3]
NM_001258274.3:c.-1059GA[3]
NM_001354615.2:c.-590GA[3]
NM_001354616.2:c.-590GA[3]
NM_001354617.2:c.-682GA[3]
NM_001354618.2:c.-914GA[3]
NM_001354619.2:c.-1038GA[3]
NM_001354620.2:c.-248GA[3]
NM_001354621.2:c.-1007GA[3]
NM_001354622.2:c.-1120GA[3]
NM_001354623.2:c.-1029GA[3]
NM_001354624.2:c.-790GA[3]
NM_001354625.2:c.-688GA[3]
NM_001354626.2:c.-785GA[3]
NM_001354627.2:c.-1017GA[3]
NM_001354628.2:c.39_40dup
NM_001354629.2:c.39_40dup
NM_001354630.2:c.39_40dup
NP_000240.1:p.Thr14fs
NP_001245200.1:p.Thr14fs
NP_001341557.1:p.Thr14fs
NP_001341558.1:p.Thr14fs
NP_001341559.1:p.Thr14fs
LRG_216:g.5235GA[3]
NC_000003.11:g.37035075GA[3]

Protein change:

T14fs

Links:

dbSNP: rs587779013

NCBI 1000 Genomes Browser:

rs587779013

Molecular consequence:

NM_001167617.3:c.-480GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-909GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-822GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-596GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-1059GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-590GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-590GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-682GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-914GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-1038GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-248GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-1007GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-1120GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-1029GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-790GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-688GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-785GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-1017GA[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.39_40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.39_40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.39_40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.39_40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.39_40dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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Mus musculus RIKEN cDNA 4933406L09 gene (4933406L09Rik), mRNA
Mus musculus RIKEN cDNA 4933406L09 gene (4933406L09Rik), mRNA
gi|21312725|ref|NM_028934.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000106699	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

SCV000106699

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

Pathogenic
(Sep 5, 2013)

germline

research

Citation Link

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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), SCV000106699.3

#	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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