NM_000179.3(MSH6):c.3818dup (p.Asn1273fs) 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:: RCV003449514.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)]

NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)

HGVS:

NC_000002.12:g.47806468dup
NG_007111.1:g.28322dup
NG_008397.1:g.104211dup
NM_000179.2:c.3818dup
NM_000179.3:c.3818dupMANE SELECT
NM_001281492.2:c.3428dup
NM_001281493.2:c.2912dup
NM_001281494.2:c.2912dup
NP_000170.1:p.Asn1273fs
NP_001268421.1:p.Asn1143fs
NP_001268422.1:p.Asn971fs
NP_001268423.1:p.Asn971fs
LRG_219t1:c.3818dup
LRG_219:g.28322dup
NC_000002.11:g.48033603_48033604insA
NC_000002.11:g.48033607dup
NM_000179.2:c.3818dupA
NM_000179.3:c.3818dup

Protein change:

N1143fs

Links:

dbSNP: rs1553333321

NCBI 1000 Genomes Browser:

rs1553333321

Molecular consequence:

NM_000179.3:c.3818dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3428dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.2912dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.2912dup - 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
SCV004187158	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

SCV004187158

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., SCV004187158.1

#	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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