NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 22, 2018
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:: RCV002451626.1

Allele description [Variation Report for NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer)]

NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer)

HGVS:

NC_000003.12:g.36993581_36993593del
NG_007109.2:g.5232_5244del
NG_008418.1:g.4713_4725del
NM_000249.3:c.34_46del13
NM_000249.4:c.34_46delMANE SELECT
NM_001167617.3:c.-483_-471del
NM_001167618.3:c.-912_-900del
NM_001167619.3:c.-825_-813del
NM_001258271.2:c.34_46del
NM_001258273.2:c.-599_-587del
NM_001258274.3:c.-1062_-1050del
NM_001354615.2:c.-593_-581del
NM_001354616.2:c.-593_-581del
NM_001354617.2:c.-685_-673del
NM_001354618.2:c.-917_-905del
NM_001354619.2:c.-1041_-1029del
NM_001354620.2:c.-251_-239del
NM_001354621.2:c.-1010_-998del
NM_001354622.2:c.-1123_-1111del
NM_001354623.2:c.-1032_-1020del
NM_001354624.2:c.-793_-781del
NM_001354625.2:c.-691_-679del
NM_001354626.2:c.-788_-776del
NM_001354627.2:c.-1020_-1008del
NM_001354628.2:c.34_46del
NM_001354629.2:c.34_46del
NM_001354630.2:c.34_46del
NP_000240.1:p.Leu11_Asp12insTer
NP_001245200.1:p.Leu11_Asp12insTer
NP_001341557.1:p.Leu11_Asp12insTer
NP_001341558.1:p.Leu11_Asp12insTer
NP_001341559.1:p.Leu11_Asp12insTer
LRG_216t1:c.34_46del
LRG_216:g.5232_5244del
NC_000003.11:g.37035072_37035084del
NM_000249.3:c.34_46del13
NM_000249.3:c.34_46delGACGAGACAGTGG

Links:

dbSNP: rs2080891193

NCBI 1000 Genomes Browser:

rs2080891193

Molecular consequence:

NM_001167617.3:c.-483_-471del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-912_-900del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-825_-813del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-599_-587del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-1062_-1050del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-593_-581del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-593_-581del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-685_-673del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-917_-905del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-1041_-1029del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-251_-239del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-1010_-998del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-1123_-1111del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-1032_-1020del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-793_-781del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-691_-679del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-788_-776del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-1020_-1008del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.34_46del - nonsense - [Sequence Ontology: SO:0001587]
NM_001258271.2:c.34_46del - nonsense - [Sequence Ontology: SO:0001587]
NM_001354628.2:c.34_46del - nonsense - [Sequence Ontology: SO:0001587]
NM_001354629.2:c.34_46del - nonsense - [Sequence Ontology: SO:0001587]
NM_001354630.2:c.34_46del - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV002612697	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Jan 22, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002612697

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Jan 22, 2018)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002612697.1

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

Description

The c.34_46del13 pathogenic mutation, located in coding exon 1 of the MLH1 gene, results from a deletion of 13 nucleotides at nucleotide positions 34 to 46, causing a translational frameshift with a predicted alternate stop codon (p.D12*). 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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