NM_000249.4(MLH1):c.2224del (p.Gln742fs) 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:: RCV000075582.4

Allele description [Variation Report for NM_000249.4(MLH1):c.2224del (p.Gln742fs)]

NM_000249.4(MLH1):c.2224del (p.Gln742fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.2224del (p.Gln742fs)

HGVS:

NC_000003.12:g.37050606del
NG_007109.2:g.62257del
NM_000249.4:c.2224delMANE SELECT
NM_001167617.3:c.1930del
NM_001167618.3:c.1501del
NM_001167619.3:c.1501del
NM_001258271.2:c.2017del
NM_001258273.2:c.1501del
NM_001258274.3:c.1501del
NM_001354615.2:c.1501del
NM_001354616.2:c.1501del
NM_001354617.2:c.1501del
NM_001354618.2:c.1501del
NM_001354619.2:c.1501del
NM_001354620.2:c.1930del
NM_001354621.2:c.1201del
NM_001354622.2:c.1201del
NM_001354623.2:c.1201del
NM_001354624.2:c.1150del
NM_001354625.2:c.1150del
NM_001354626.2:c.1150del
NM_001354627.2:c.1150del
NM_001354628.2:c.2131del
NM_001354629.2:c.2125del
NM_001354630.2:c.2059del
NP_000240.1:p.Gln742fs
NP_001161089.1:p.Gln644fs
NP_001161090.1:p.Gln501fs
NP_001161091.1:p.Gln501fs
NP_001245200.1:p.Gln673fs
NP_001245202.1:p.Gln501fs
NP_001245203.1:p.Gln501fs
NP_001341544.1:p.Gln501fs
NP_001341545.1:p.Gln501fs
NP_001341546.1:p.Gln501fs
NP_001341547.1:p.Gln501fs
NP_001341548.1:p.Gln501fs
NP_001341549.1:p.Gln644fs
NP_001341550.1:p.Gln401fs
NP_001341551.1:p.Gln401fs
NP_001341552.1:p.Gln401fs
NP_001341553.1:p.Gln384fs
NP_001341554.1:p.Gln384fs
NP_001341555.1:p.Gln384fs
NP_001341556.1:p.Gln384fs
NP_001341557.1:p.Gln711fs
NP_001341558.1:p.Gln709fs
NP_001341559.1:p.Gln687fs
LRG_216:g.62257del
NC_000003.11:g.37092097del

Protein change:

Q384fs

Links:

dbSNP: rs267607896

NCBI 1000 Genomes Browser:

rs267607896

Molecular consequence:

NM_000249.4:c.2224del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167617.3:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167618.3:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167619.3:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.2017del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258273.2:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258274.3:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354615.2:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354616.2:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354617.2:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354618.2:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354619.2:c.1501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354620.2:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354621.2:c.1201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354622.2:c.1201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354623.2:c.1201del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354624.2:c.1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354625.2:c.1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354626.2:c.1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354627.2:c.1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.2131del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000106579	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

SCV000106579

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), SCV000106579.3

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

Description

Frameshift interrupting C-terminus interaction domain

#	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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