NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Dec 14, 2020
Review status:: criteria provided, conflicting classifications

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:: RCV000985852.6

Allele description [Variation Report for NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)]

NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)

Other names:

p.G289E:GGC>GAA

HGVS:

NC_000002.12:g.47798849_47798850delinsAA
NG_007111.1:g.20703_20704delinsAA
NM_000179.3:c.866_867delinsAAMANE SELECT
NM_001281492.2:c.476_477delinsAA
NM_001281493.2:c.-41_-40delinsAA
NM_001281494.2:c.-41_-40delinsAA
NP_000170.1:p.Gly289Glu
NP_001268421.1:p.Gly159Glu
LRG_219:g.20703_20704delinsAA
NC_000002.11:g.48025988_48025989delinsAA
NM_000179.2:c.866_867delGCinsAA
p.G289E

Protein change:

G159E

Links:

dbSNP: rs267608079

NCBI 1000 Genomes Browser:

rs267608079

Molecular consequence:

NM_001281493.2:c.-41_-40delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001281494.2:c.-41_-40delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000179.3:c.866_867delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.476_477delinsAA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000211382	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Dec 14, 2020)	germline	clinical testing	Citation Link,
SCV001134458	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Mar 19, 2019)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 16010685, 18269114, 20028993, 23621914, 26333163, 27997549, 26898890, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000211382

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Dec 14, 2020)

germline

clinical testing

Citation Link,

SCV001134458

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Mar 19, 2019)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software.

Colley J, Jones S, Dallosso AR, Maynard JH, Humphreys V, Dolwani S, Sampson JR, Cheadle JP.

Hum Mutat. 2005 Aug;26(2):165.

PubMed [citation]

PMID:: 16010685

Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

Devlin LA, Graham CA, Price JH, Morrison PJ.

Ulster Med J. 2008 Jan;77(1):25-30.

PubMed [citation]

PMID:: 18269114
PMCID:: PMC2397009

See all PubMed Citations (8)

Details of each submission

From GeneDx, SCV000211382.12

#	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 associated with the following publications: (PMID: 26898890, 16010685, 18269114, 23621914, 20028993, 26333163, 26635394)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134458.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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