NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) AND Lynch syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 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:: RCV003449173.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)]

NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)

HGVS:

NC_000002.12:g.47806289_47806292dup
NG_007111.1:g.28143_28146dup
NG_008397.1:g.104386_104389dup
NM_000179.3:c.3732_3735dupMANE SELECT
NM_001281492.2:c.3342_3345dup
NM_001281493.2:c.2826_2829dup
NM_001281494.2:c.2826_2829dup
NP_000170.1:p.Ser1246fs
NP_000170.1:p.Ser1246fs
NP_001268421.1:p.Ser1116fs
NP_001268422.1:p.Ser944fs
NP_001268423.1:p.Ser944fs
LRG_219t1:c.3732_3735dup
LRG_219:g.28143_28146dup
LRG_219p1:p.Ser1246fs
NC_000002.11:g.48033425_48033426insTTAT
NC_000002.11:g.48033428_48033431dup
NM_000179.2:c.3732_3735dup
NM_000179.2:c.3732_3735dupATTT

Protein change:

S1116fs

Links:

dbSNP: rs1553333072

NCBI 1000 Genomes Browser:

rs1553333072

Molecular consequence:

NM_000179.3:c.3732_3735dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3342_3345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.2826_2829dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.2826_2829dup - 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
SCV004187254	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 25, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004187254

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Aug 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., SCV004187254.1

#	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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