NM_000179.3(MSH6):c.2238dup (p.Leu747fs) AND Lynch syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 16, 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:: RCV003449503.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2238dup (p.Leu747fs)]

NM_000179.3(MSH6):c.2238dup (p.Leu747fs)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.2238dup (p.Leu747fs)

HGVS:

NC_000002.12:g.47800221dup
NG_007111.1:g.22075dup
NM_000179.3:c.2238dupMANE SELECT
NM_001281492.2:c.1848dup
NM_001281493.2:c.1332dup
NM_001281494.2:c.1332dup
NP_000170.1:p.Leu747fs
NP_000170.1:p.Leu747fs
NP_001268421.1:p.Leu617fs
NP_001268422.1:p.Leu445fs
NP_001268423.1:p.Leu445fs
LRG_219t1:c.2238dup
LRG_219:g.22075dup
LRG_219p1:p.Leu747fs
NC_000002.11:g.48027355_48027356insT
NC_000002.11:g.48027360dup
NM_000179.2:c.2238dup
NM_000179.2:c.2238dupT

Protein change:

L445fs

Links:

dbSNP: rs1553413599

NCBI 1000 Genomes Browser:

rs1553413599

Molecular consequence:

NM_000179.3:c.2238dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.1848dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.1332dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.1332dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Lynch syndrome 5 (LYNCH5)
Synonyms:: Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5
Identifiers:: MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004185656	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 16, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004185656

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Aug 16, 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., SCV004185656.1

#	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: Oct 8, 2024

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