NM_000249.4(MLH1):c.205del (p.Arg69fs) 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:: RCV000075500.4

Allele description [Variation Report for NM_000249.4(MLH1):c.205del (p.Arg69fs)]

NM_000249.4(MLH1):c.205del (p.Arg69fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.205del (p.Arg69fs)

HGVS:

NC_000003.12:g.36996707del
NG_007109.2:g.8358del
NG_008418.1:g.1598del
NM_000249.4:c.205delMANE SELECT
NM_001167617.3:c.-85del
NM_001167618.3:c.-519del
NM_001167619.3:c.-427del
NM_001258271.2:c.205del
NM_001258273.2:c.-517+3044del
NM_001258274.3:c.-664del
NM_001354615.2:c.-422del
NM_001354616.2:c.-427del
NM_001354617.2:c.-519del
NM_001354618.2:c.-519del
NM_001354619.2:c.-519del
NM_001354620.2:c.-85del
NM_001354621.2:c.-612del
NM_001354622.2:c.-725del
NM_001354623.2:c.-723+2817del
NM_001354624.2:c.-622del
NM_001354625.2:c.-525del
NM_001354626.2:c.-622del
NM_001354627.2:c.-622del
NM_001354628.2:c.205del
NM_001354629.2:c.205del
NM_001354630.2:c.205del
NP_000240.1:p.Arg69fs
NP_001245200.1:p.Arg69fs
NP_001341557.1:p.Arg69fs
NP_001341558.1:p.Arg69fs
NP_001341559.1:p.Arg69fs
LRG_216:g.8358del
NC_000003.11:g.37038198del

Protein change:

R69fs

Links:

dbSNP: rs63751704

NCBI 1000 Genomes Browser:

rs63751704

Molecular consequence:

NM_001167617.3:c.-85del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-519del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-427del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-664del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-422del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-427del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-519del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-519del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-519del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-85del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-612del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-725del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-622del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-525del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-622del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-622del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.205del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.205del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.205del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.205del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.205del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258273.2:c.-517+3044del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-723+2817del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

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Carex donnell-smithii isolate spm00007638 maturase K (matK) gene, partial cds; c...
Carex donnell-smithii isolate spm00007638 maturase K (matK) gene, partial cds; chloroplast
gi|1878290467|gb|MN763835.1|

Nucleotide
MIR320B1 microRNA 320b-1 [Homo sapiens]
MIR320B1 microRNA 320b-1 [Homo sapiens]
Gene ID:100302117

Gene
homo sapiens[Organism] AND MIR320B1 AND (alive[prop]) (1)
Gene
homo sapiens[Organism] AND CD2 AND (alive[prop]) (95)
Gene
plasmodesmata-located protein 2-like [Cucumis melo]
plasmodesmata-located protein 2-like [Cucumis melo]
gi|659121499|ref|XP_008460690.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000106496	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

SCV000106496

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), SCV000106496.3

#	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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