NM_000249.4(MLH1):c.2069dup (p.Tyr690Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 25, 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:: RCV003452701.1

Allele description [Variation Report for NM_000249.4(MLH1):c.2069dup (p.Tyr690Ter)]

NM_000249.4(MLH1):c.2069dup (p.Tyr690Ter)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.2069dup (p.Tyr690Ter)

HGVS:

NC_000003.12:g.37048983dup
NG_007109.2:g.60634dup
NM_000249.4:c.2069dupMANE SELECT
NM_001167617.3:c.1775dup
NM_001167618.3:c.1346dup
NM_001167619.3:c.1346dup
NM_001258271.2:c.1896+1300dup
NM_001258273.2:c.1346dup
NM_001258274.3:c.1346dup
NM_001354615.2:c.1346dup
NM_001354616.2:c.1346dup
NM_001354617.2:c.1346dup
NM_001354618.2:c.1346dup
NM_001354619.2:c.1346dup
NM_001354620.2:c.1775dup
NM_001354621.2:c.1046dup
NM_001354622.2:c.1046dup
NM_001354623.2:c.1046dup
NM_001354624.2:c.995dup
NM_001354625.2:c.995dup
NM_001354626.2:c.995dup
NM_001354627.2:c.995dup
NM_001354628.2:c.1976dup
NM_001354629.2:c.1970dup
NM_001354630.2:c.1904dup
NP_000240.1:p.Tyr690Ter
NP_000240.1:p.Tyr690Terfs
NP_001161089.1:p.Tyr592Ter
NP_001161090.1:p.Tyr449Ter
NP_001161091.1:p.Tyr449Ter
NP_001245202.1:p.Tyr449Ter
NP_001245203.1:p.Tyr449Ter
NP_001341544.1:p.Tyr449Ter
NP_001341545.1:p.Tyr449Ter
NP_001341546.1:p.Tyr449Ter
NP_001341547.1:p.Tyr449Ter
NP_001341548.1:p.Tyr449Ter
NP_001341549.1:p.Tyr592Ter
NP_001341550.1:p.Tyr349Ter
NP_001341551.1:p.Tyr349Ter
NP_001341552.1:p.Tyr349Ter
NP_001341553.1:p.Tyr332Ter
NP_001341554.1:p.Tyr332Ter
NP_001341555.1:p.Tyr332Ter
NP_001341556.1:p.Tyr332Ter
NP_001341557.1:p.Tyr659Ter
NP_001341558.1:p.Tyr657Ter
NP_001341559.1:p.Tyr635Ter
LRG_216t1:c.2069dup
LRG_216:g.60634dup
LRG_216p1:p.Tyr690Terfs
NC_000003.11:g.37090474dup
NM_000249.3:c.2069dup

Protein change:

Y332*

Molecular consequence:

NM_001258271.2:c.1896+1300dup - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.2069dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001167617.3:c.1775dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001167618.3:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001167619.3:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001258273.2:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001258274.3:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354615.2:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354616.2:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354617.2:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354618.2:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354619.2:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354620.2:c.1775dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354621.2:c.1046dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354622.2:c.1046dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354623.2:c.1046dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354624.2:c.995dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354625.2:c.995dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354626.2:c.995dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354627.2:c.995dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354628.2:c.1976dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354629.2:c.1970dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001354630.2:c.1904dup - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004186291	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jul 25, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004186291

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Jul 25, 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., SCV004186291.1

#	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 termination codon and is 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

ClinVar

Relating variation to medicine