NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del) AND Lynch syndrome 5

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 30, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000662384.2

Allele description [Variation Report for NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del)]

NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del)

HGVS:

NC_000002.12:g.47799511AGG[1]
NG_007111.1:g.21365AGG[1]
NM_000179.3:c.1528AGG[1]MANE SELECT
NM_001281492.2:c.1138AGG[1]
NM_001281493.2:c.622AGG[1]
NM_001281494.2:c.622AGG[1]
NP_000170.1:p.Arg511del
NP_001268421.1:p.Arg381del
NP_001268422.1:p.Arg209del
NP_001268423.1:p.Arg209del
LRG_219t1:c.1531_1533del
LRG_219:g.21365AGG[1]
NC_000002.11:g.48026649_48026651del
NC_000002.11:g.48026650AGG[1]
NM_000179.2:c.1531_1533del
NM_000179.2:c.1531_1533delAGG

Protein change:

R209del

Links:

dbSNP: rs993163672

NCBI 1000 Genomes Browser:

rs993163672

Molecular consequence:

NM_000179.3:c.1528AGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281492.2:c.1138AGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281493.2:c.622AGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001281494.2:c.622AGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000784786	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Oct 5, 2017)	unknown	clinical testing	Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV004019209	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Mar 30, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000784786

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Oct 5, 2017)

unknown

clinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV004019209

Myriad Genetics, Inc.

criteria provided, single submitter

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

Uncertain significance
(Mar 30, 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 Counsyl, SCV000784786.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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

From Myriad Genetics, Inc., SCV004019209.1

#	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 classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

#	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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