NM_000249.4(MLH1):c.192dup (p.Gly65fs) AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 11, 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:: RCV003452683.1

Allele description [Variation Report for NM_000249.4(MLH1):c.192dup (p.Gly65fs)]

NM_000249.4(MLH1):c.192dup (p.Gly65fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.192dup (p.Gly65fs)

HGVS:

NC_000003.12:g.36996694dup
NG_007109.2:g.8345dup
NG_008418.1:g.1611dup
NM_000249.4:c.192dupMANE SELECT
NM_001167617.3:c.-98dup
NM_001167618.3:c.-532dup
NM_001167619.3:c.-440dup
NM_001258271.2:c.192dup
NM_001258273.2:c.-517+3031dup
NM_001258274.3:c.-677dup
NM_001354615.2:c.-435dup
NM_001354616.2:c.-440dup
NM_001354617.2:c.-532dup
NM_001354618.2:c.-532dup
NM_001354619.2:c.-532dup
NM_001354620.2:c.-98dup
NM_001354621.2:c.-625dup
NM_001354622.2:c.-738dup
NM_001354623.2:c.-723+2804dup
NM_001354624.2:c.-635dup
NM_001354625.2:c.-538dup
NM_001354626.2:c.-635dup
NM_001354627.2:c.-635dup
NM_001354628.2:c.192dup
NM_001354629.2:c.192dup
NM_001354630.2:c.192dup
NP_000240.1:p.Gly65Trpfs
NP_000240.1:p.Gly65fs
NP_001245200.1:p.Gly65fs
NP_001341557.1:p.Gly65fs
NP_001341558.1:p.Gly65fs
NP_001341559.1:p.Gly65fs
LRG_216t1:c.192dup
LRG_216:g.8345dup
LRG_216p1:p.Gly65Trpfs
NC_000003.11:g.37038185dup
NM_000249.3:c.192dup

Protein change:

G65fs

Molecular consequence:

NM_001167617.3:c.-98dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-532dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-440dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-677dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-435dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-440dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-532dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-532dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-532dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-98dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-625dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-738dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-635dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-538dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-635dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-635dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258273.2:c.-517+3031dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-723+2804dup - intron variant - [Sequence Ontology: SO:0001627]

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

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RecName: Full=Antifungal peptide 2; AltName: Full=EAFP2
RecName: Full=Antifungal peptide 2; AltName: Full=EAFP2
gi|32363161|sp|P83597.1|EAP2_EUCUL

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004190001	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jul 11, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004190001

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Jul 11, 2023)

unknown

clinical testing

Citation Link

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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., SCV004190001.1

#	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: Dec 30, 2023

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