NM_000249.4(MLH1):c.67del (p.Glu23fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 23, 2021
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:: RCV001353400.5

Allele description [Variation Report for NM_000249.4(MLH1):c.67del (p.Glu23fs)]

NM_000249.4(MLH1):c.67del (p.Glu23fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.67del (p.Glu23fs)

HGVS:

NC_000003.12:g.36993614del
NG_007109.2:g.5265del
NG_008418.1:g.4695del
NM_000249.4:c.67delMANE SELECT
NM_001167617.3:c.-450del
NM_001167618.3:c.-879del
NM_001167619.3:c.-792del
NM_001258271.2:c.67del
NM_001258273.2:c.-566del
NM_001258274.3:c.-1029del
NM_001354615.2:c.-560del
NM_001354616.2:c.-560del
NM_001354617.2:c.-652del
NM_001354618.2:c.-884del
NM_001354619.2:c.-1008del
NM_001354620.2:c.-218del
NM_001354621.2:c.-977del
NM_001354622.2:c.-1090del
NM_001354623.2:c.-999del
NM_001354624.2:c.-760del
NM_001354625.2:c.-658del
NM_001354626.2:c.-755del
NM_001354627.2:c.-987del
NM_001354628.2:c.67del
NM_001354629.2:c.67del
NM_001354630.2:c.67del
NP_000240.1:p.Glu23fs
NP_001245200.1:p.Glu23fs
NP_001341557.1:p.Glu23fs
NP_001341558.1:p.Glu23fs
NP_001341559.1:p.Glu23fs
LRG_216:g.5265del
NC_000003.11:g.37035101del
NC_000003.11:g.37035105del
NM_000249.3:c.67delG

Protein change:

E23fs

Links:

dbSNP: rs63750822

NCBI 1000 Genomes Browser:

rs63750822

Molecular consequence:

NM_001167617.3:c.-450del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-879del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-792del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-566del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-1029del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-560del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-560del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-652del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-884del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-1008del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-218del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-977del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-1090del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-999del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-760del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-658del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-755del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-987del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.67del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.67del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.67del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.67del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.67del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000592329	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing
SCV002522532	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 23, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15713769, 25081409, 31660093, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000592329

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Uncertain significance

unknown

clinical testing

SCV002522532

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 23, 2021)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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
not provided	unknown	yes	0	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Casey G, Lindor NM, Papadopoulos N, Thibodeau SN, Moskow J, Steelman S, Buzin CH, Sommer SS, Collins CE, Butz M, Aronson M, Gallinger S, Barker MA, Young JP, Jass JR, Hopper JL, Diep A, Bapat B, Salem M, Seminara D, Haile R; Colon Cancer Family Registry..

JAMA. 2005 Feb 16;293(7):799-809.

PubMed [citation]

PMID:: 15713769
PMCID:: PMC2933041

Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing.

Ferguson SE, Aronson M, Pollett A, Eiriksson LR, Oza AM, Gallinger S, Lerner-Ellis J, Alvandi Z, Bernardini MQ, MacKay HJ, Mojtahedi G, Tone AA, Massey C, Clarke BA.

Cancer. 2014 Dec 15;120(24):3932-9. doi: 10.1002/cncr.28933. Epub 2014 Jul 31.

PubMed [citation]

PMID:: 25081409

See all PubMed Citations (4)

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592329.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	0	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		0	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV002522532.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

PP4, PP5, PM2, PVS1

#	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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