NM_000249.4(MLH1):c.67del (p.Glu23fs) AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 10, 2023
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:: RCV003452762.1

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)

Name:: Colorectal cancer, hereditary nonpolyposis, type 2 (LYNCH2)
Synonyms:: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

Recent activity

Clear Turn Off Turn On

transmembrane anterior posterior transformation protein 1 homolog isoform X7 [Ho...
transmembrane anterior posterior transformation protein 1 homolog isoform X7 [Homo sapiens]
gi|2462595463|ref|XP_054205158.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004190059	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jul 10, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004190059

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jul 10, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004190059.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine