NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs) AND Lynch syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 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:: RCV003454049.1

Allele description [Variation Report for NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs)]

NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs)

HGVS:

NC_000002.12:g.47798959_47798960insTTGCG
NG_007111.1:g.20813_20814insTTGCG
NM_000179.2:c.976_977insTTGCG
NM_000179.3:c.976_977insTTGCGMANE SELECT
NM_001281492.2:c.586_587insTTGCG
NM_001281493.2:c.70_71insTTGCG
NM_001281494.2:c.70_71insTTGCG
NP_000170.1:p.Ala326fs
NP_001268421.1:p.Ala196fs
NP_001268422.1:p.Ala24fs
NP_001268423.1:p.Ala24fs
LRG_219t1:c.976_977insTTGCG
LRG_219:g.20813_20814insTTGCG
NC_000002.11:g.48026098_48026099insTTGCG
NC_000002.12:g.47798958_47798959insGTTGC

Protein change:

A196fs

Links:

dbSNP: rs2104310469

NCBI 1000 Genomes Browser:

rs2104310469

Molecular consequence:

NM_000179.3:c.976_977insTTGCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.586_587insTTGCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.70_71insTTGCG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.70_71insTTGCG - 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
SCV004187265	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 11, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004187265

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Aug 11, 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., SCV004187265.1

#	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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