NM_000179.3(MSH6):c.2269A>G (p.Thr757Ala) AND Endometrial carcinoma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 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:: RCV003461939.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2269A>G (p.Thr757Ala)]

NM_000179.3(MSH6):c.2269A>G (p.Thr757Ala)

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.2269A>G (p.Thr757Ala)

HGVS:

NC_000002.12:g.47800252A>G
NG_007111.1:g.22106A>G
NM_000179.3:c.2269A>GMANE SELECT
NM_001281492.2:c.1879A>G
NM_001281493.2:c.1363A>G
NM_001281494.2:c.1363A>G
NM_001406795.1:c.2365A>G
NM_001406796.1:c.2269A>G
NM_001406797.1:c.1972A>G
NM_001406798.1:c.2269A>G
NM_001406799.1:c.1744A>G
NM_001406800.1:c.2269A>G
NM_001406801.1:c.1972A>G
NM_001406802.1:c.2365A>G
NM_001406803.1:c.2269A>G
NM_001406804.1:c.2191A>G
NM_001406805.1:c.1972A>G
NM_001406806.1:c.1744A>G
NM_001406807.1:c.1744A>G
NM_001406808.1:c.2269A>G
NM_001406809.1:c.2269A>G
NM_001406811.1:c.1363A>G
NM_001406812.1:c.1363A>G
NM_001406813.1:c.2275A>G
NM_001406814.1:c.1363A>G
NM_001406815.1:c.1363A>G
NM_001406816.1:c.1363A>G
NM_001406817.1:c.1606+663A>G
NM_001406818.1:c.1972A>G
NM_001406819.1:c.1972A>G
NM_001406820.1:c.1972A>G
NM_001406821.1:c.1972A>G
NM_001406822.1:c.1972A>G
NM_001406823.1:c.1363A>G
NM_001406824.1:c.1972A>G
NM_001406825.1:c.1972A>G
NM_001406826.1:c.2101A>G
NM_001406827.1:c.1972A>G
NM_001406828.1:c.1972A>G
NM_001406829.1:c.1363A>G
NM_001406830.1:c.1972A>G
NM_001407362.1:c.628-414A>G
NP_000170.1:p.Thr757Ala
NP_000170.1:p.Thr757Ala
NP_001268421.1:p.Thr627Ala
NP_001268422.1:p.Thr455Ala
NP_001268423.1:p.Thr455Ala
NP_001393724.1:p.Thr789Ala
NP_001393725.1:p.Thr757Ala
NP_001393726.1:p.Thr658Ala
NP_001393727.1:p.Thr757Ala
NP_001393728.1:p.Thr582Ala
NP_001393729.1:p.Thr757Ala
NP_001393730.1:p.Thr658Ala
NP_001393731.1:p.Thr789Ala
NP_001393732.1:p.Thr757Ala
NP_001393733.1:p.Thr731Ala
NP_001393734.1:p.Thr658Ala
NP_001393735.1:p.Thr582Ala
NP_001393736.1:p.Thr582Ala
NP_001393737.1:p.Thr757Ala
NP_001393738.1:p.Thr757Ala
NP_001393740.1:p.Thr455Ala
NP_001393741.1:p.Thr455Ala
NP_001393742.1:p.Thr759Ala
NP_001393743.1:p.Thr455Ala
NP_001393744.1:p.Thr455Ala
NP_001393745.1:p.Thr455Ala
NP_001393747.1:p.Thr658Ala
NP_001393748.1:p.Thr658Ala
NP_001393749.1:p.Thr658Ala
NP_001393750.1:p.Thr658Ala
NP_001393751.1:p.Thr658Ala
NP_001393752.1:p.Thr455Ala
NP_001393753.1:p.Thr658Ala
NP_001393754.1:p.Thr658Ala
NP_001393755.1:p.Thr701Ala
NP_001393756.1:p.Thr658Ala
NP_001393757.1:p.Thr658Ala
NP_001393758.1:p.Thr455Ala
NP_001393759.1:p.Thr658Ala
LRG_219t1:c.2269A>G
LRG_219:g.22106A>G
LRG_219p1:p.Thr757Ala
NC_000002.11:g.48027391A>G
NM_000179.2:c.2269A>G
NR_176256.1:n.1131A>G
NR_176257.1:n.2358A>G
NR_176258.1:n.2358A>G
NR_176259.1:n.2358A>G
NR_176261.1:n.2358A>G

Protein change:

T455A

Molecular consequence:

NM_001406817.1:c.1606+663A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407362.1:c.628-414A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000179.3:c.2269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1879A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.1744A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.2269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.2191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.1744A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.1744A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2275A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_176256.1:n.1131A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176257.1:n.2358A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.2358A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.2358A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.2358A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004195616	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 4, 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

SCV004195616

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 4, 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, SCV004195616.1

#	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: Dec 30, 2023

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