NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del) 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:: RCV000075552.4

Allele description [Variation Report for NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)]

NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)

HGVS:

NC_000003.12:g.37000957AGA[1]
NG_007109.2:g.12608AGA[1]
NM_000249.4:c.210AGA[1]MANE SELECT
NM_001167617.3:c.-80AGA[1]
NM_001167618.3:c.-514AGA[1]
NM_001167619.3:c.-422AGA[1]
NM_001258271.2:c.210AGA[1]
NM_001258273.2:c.-514AGA[1]
NM_001258274.3:c.-514AGA[1]
NM_001354615.2:c.-417AGA[1]
NM_001354616.2:c.-422AGA[1]
NM_001354617.2:c.-514AGA[1]
NM_001354618.2:c.-514AGA[1]
NM_001354619.2:c.-514AGA[1]
NM_001354620.2:c.-80AGA[1]
NM_001354621.2:c.-607AGA[1]
NM_001354622.2:c.-720AGA[1]
NM_001354623.2:c.-720AGA[1]
NM_001354624.2:c.-617AGA[1]
NM_001354625.2:c.-520AGA[1]
NM_001354626.2:c.-617AGA[1]
NM_001354627.2:c.-617AGA[1]
NM_001354628.2:c.210AGA[1]
NM_001354629.2:c.208-3441_208-3439del
NM_001354630.2:c.210AGA[1]
NP_000240.1:p.Glu71del
NP_001245200.1:p.Glu71del
NP_001341557.1:p.Glu71del
NP_001341559.1:p.Glu71del
LRG_216t1:c.213_215del
LRG_216:g.12608AGA[1]
NC_000003.11:g.37042447_37042449del
NC_000003.11:g.37042448AGA[1]
NM_000249.3:c.213_215del
NM_000249.3:c.213_215delAGA
NM_000249.4:c.213_215delMANE SELECT

Protein change:

E71del

Links:

LOVD 3: MLH1_000141; OMIM: 120436.0023; dbSNP: rs63751642

NCBI 1000 Genomes Browser:

rs63751642

Molecular consequence:

NM_001167617.3:c.-80AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-514AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-422AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-514AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-514AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-417AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-422AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-514AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-514AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-514AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-80AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-607AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-720AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-720AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-617AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-520AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-617AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-617AGA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.210AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001258271.2:c.210AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354628.2:c.210AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354630.2:c.210AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354629.2:c.208-3441_208-3439del - 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
SCV000106545	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

SCV000106545

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), SCV000106545.3

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

Description

Variant allele causes in-frame splicing aberration interrupting ATPase domain: full inactivation of variant allele

#	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: Nov 10, 2024

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