NM_000179.3(MSH6):c.2008G>T (p.Gly670Trp) AND Endometrial carcinoma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 13, 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:: RCV003464541.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2008G>T (p.Gly670Trp)]

NM_000179.3(MSH6):c.2008G>T (p.Gly670Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.2008G>T (p.Gly670Trp)

HGVS:

NC_000002.12:g.47799991G>T
NG_007111.1:g.21845G>T
NM_000179.3:c.2008G>TMANE SELECT
NM_001281492.2:c.1618G>T
NM_001281493.2:c.1102G>T
NM_001281494.2:c.1102G>T
NM_001406795.1:c.2104G>T
NM_001406796.1:c.2008G>T
NM_001406797.1:c.1711G>T
NM_001406798.1:c.2008G>T
NM_001406799.1:c.1483G>T
NM_001406800.1:c.2008G>T
NM_001406801.1:c.1711G>T
NM_001406802.1:c.2104G>T
NM_001406803.1:c.2008G>T
NM_001406804.1:c.1930G>T
NM_001406805.1:c.1711G>T
NM_001406806.1:c.1483G>T
NM_001406807.1:c.1483G>T
NM_001406808.1:c.2008G>T
NM_001406809.1:c.2008G>T
NM_001406811.1:c.1102G>T
NM_001406812.1:c.1102G>T
NM_001406813.1:c.2014G>T
NM_001406814.1:c.1102G>T
NM_001406815.1:c.1102G>T
NM_001406816.1:c.1102G>T
NM_001406818.1:c.1711G>T
NM_001406819.1:c.1711G>T
NM_001406820.1:c.1711G>T
NM_001406821.1:c.1711G>T
NM_001406822.1:c.1711G>T
NM_001406823.1:c.1102G>T
NM_001406824.1:c.1711G>T
NM_001406825.1:c.1711G>T
NM_001406826.1:c.1840G>T
NM_001406827.1:c.1711G>T
NM_001406828.1:c.1711G>T
NM_001406829.1:c.1102G>T
NM_001406830.1:c.1711G>T
NP_000170.1:p.Gly670Trp
NP_000170.1:p.Gly670Trp
NP_001268421.1:p.Gly540Trp
NP_001268422.1:p.Gly368Trp
NP_001268423.1:p.Gly368Trp
NP_001393724.1:p.Gly702Trp
NP_001393725.1:p.Gly670Trp
NP_001393726.1:p.Gly571Trp
NP_001393727.1:p.Gly670Trp
NP_001393728.1:p.Gly495Trp
NP_001393729.1:p.Gly670Trp
NP_001393730.1:p.Gly571Trp
NP_001393731.1:p.Gly702Trp
NP_001393732.1:p.Gly670Trp
NP_001393733.1:p.Gly644Trp
NP_001393734.1:p.Gly571Trp
NP_001393735.1:p.Gly495Trp
NP_001393736.1:p.Gly495Trp
NP_001393737.1:p.Gly670Trp
NP_001393738.1:p.Gly670Trp
NP_001393740.1:p.Gly368Trp
NP_001393741.1:p.Gly368Trp
NP_001393742.1:p.Gly672Trp
NP_001393743.1:p.Gly368Trp
NP_001393744.1:p.Gly368Trp
NP_001393745.1:p.Gly368Trp
NP_001393747.1:p.Gly571Trp
NP_001393748.1:p.Gly571Trp
NP_001393749.1:p.Gly571Trp
NP_001393750.1:p.Gly571Trp
NP_001393751.1:p.Gly571Trp
NP_001393752.1:p.Gly368Trp
NP_001393753.1:p.Gly571Trp
NP_001393754.1:p.Gly571Trp
NP_001393755.1:p.Gly614Trp
NP_001393756.1:p.Gly571Trp
NP_001393757.1:p.Gly571Trp
NP_001393758.1:p.Gly368Trp
NP_001393759.1:p.Gly571Trp
LRG_219t1:c.2008G>T
LRG_219:g.21845G>T
LRG_219p1:p.Gly670Trp
NC_000002.11:g.48027130G>T
NM_000179.2:c.2008G>T
NR_176256.1:n.870G>T
NR_176257.1:n.2097G>T
NR_176258.1:n.2097G>T
NR_176259.1:n.2097G>T
NR_176261.1:n.2097G>T

Protein change:

G368W

Molecular consequence:

NM_000179.3:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1618G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2104G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.1483G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2104G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.1930G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.1483G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.1483G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2014G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.1840G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1102G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Endometrial carcinoma
Synonyms:: Endometrial carcinoma, somatic
Identifiers:: MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114

Recent activity

Clear Turn Off Turn On

Mtx2 metaxin 2 [Rattus norvegicus]
Mtx2 metaxin 2 [Rattus norvegicus]
Gene ID:288150

Gene
ENSORLP00000011073 (0)
Protein
Mus musculus blastocyst blastocyst cDNA, RIKEN full-length enriched library, clo...
Mus musculus blastocyst blastocyst cDNA, RIKEN full-length enriched library, clone:I1C0035M13 product:ubiquitin specific protease 12, full insert sequence
gi|74189063|dbj|AK167153.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004197727	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 13, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004197727

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 13, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004197727.1

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

#	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: May 1, 2024

ClinVar

Relating variation to medicine