NM_000249.4(MLH1):c.156dup (p.Glu53fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 9, 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:: RCV002399436.2

Allele description [Variation Report for NM_000249.4(MLH1):c.156dup (p.Glu53fs)]

NM_000249.4(MLH1):c.156dup (p.Glu53fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.156dup (p.Glu53fs)

HGVS:

NC_000003.12:g.36996658dup
NG_007109.2:g.8309dup
NG_008418.1:g.1649dup
NM_000249.4:c.156dupMANE SELECT
NM_001167617.3:c.-134dup
NM_001167618.3:c.-568dup
NM_001167619.3:c.-476dup
NM_001258271.2:c.156dup
NM_001258273.2:c.-517+2995dup
NM_001258274.3:c.-713dup
NM_001354615.2:c.-471dup
NM_001354616.2:c.-476dup
NM_001354617.2:c.-568dup
NM_001354618.2:c.-568dup
NM_001354619.2:c.-568dup
NM_001354620.2:c.-134dup
NM_001354621.2:c.-661dup
NM_001354622.2:c.-774dup
NM_001354623.2:c.-723+2768dup
NM_001354624.2:c.-671dup
NM_001354625.2:c.-574dup
NM_001354626.2:c.-671dup
NM_001354627.2:c.-671dup
NM_001354628.2:c.156dup
NM_001354629.2:c.156dup
NM_001354630.2:c.156dup
NP_000240.1:p.Glu53fs
NP_001245200.1:p.Glu53fs
NP_001341557.1:p.Glu53fs
NP_001341558.1:p.Glu53fs
NP_001341559.1:p.Glu53fs
LRG_216:g.8309dup
NC_000003.11:g.37038146_37038147insA
NC_000003.11:g.37038149dup
NM_000249.3:c.156dupA

Protein change:

E53fs

Links:

dbSNP: rs63750028

NCBI 1000 Genomes Browser:

rs63750028

Molecular consequence:

NM_001167617.3:c.-134dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-568dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-476dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-713dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-471dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-476dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-568dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-568dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-568dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-134dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-661dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-774dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-671dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-574dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-671dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-671dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258273.2:c.-517+2995dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-723+2768dup - 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
SCV002708450	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 9, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002708450

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 9, 2015)

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, SCV002708450.2

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

Description

The c.156dupA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a duplication of A at position 156, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#	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: Sep 29, 2024

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