NM_000179.3(MSH6):c.4071_*8dup (p.Ile1357_Ter1361=) AND Endometrial carcinoma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 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:: RCV003461933.1

Allele description [Variation Report for NM_000179.3(MSH6):c.4071_*8dup (p.Ile1357_Ter1361=)]

NM_000179.3(MSH6):c.4071_*8dup (p.Ile1357_Ter1361=)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.4071_*8dup (p.Ile1357_Ter1361=)

HGVS:

NC_000002.12:g.47806848_47806868dup
NG_007111.1:g.28702_28722dup
NG_008397.1:g.103808_103828dup
NM_000179.3:c.4071_*8dupMANE SELECT
NM_001281492.2:c.3681_*8dup
NM_001281493.2:c.3165_*8dup
NM_001281494.2:c.3165_*8dup
NM_001406795.1:c.4167_*8dup
NM_001406796.1:c.4071_*8dup
NM_001406797.1:c.3774_*8dup
NM_001406798.1:c.3897_*8dup
NM_001406799.1:c.3546_*8dup
NM_001406800.1:c.*92_*112dup
NM_001406801.1:c.*52_*72dup
NM_001406802.1:c.*52_*72dup
NM_001406803.1:c.3207_*8dup
NM_001406804.1:c.3993_*8dup
NM_001406805.1:c.3774_*8dup
NM_001406806.1:c.3546_*8dup
NM_001406807.1:c.3546_*8dup
NM_001406808.1:c.*52_*72dup
NM_001406809.1:c.4071_*8dup
NM_001406811.1:c.3165_*8dup
NM_001406812.1:c.3165_*8dup
NM_001406813.1:c.4077_*8dup
NM_001406814.1:c.3165_*8dup
NM_001406815.1:c.3165_*8dup
NM_001406816.1:c.3165_*8dup
NM_001406817.1:c.2505_*8dup
NM_001406818.1:c.3774_*8dup
NM_001406819.1:c.3774_*8dup
NM_001406820.1:c.3774_*8dup
NM_001406821.1:c.3774_*8dup
NM_001406822.1:c.*52_*72dup
NM_001406823.1:c.3165_*8dup
NM_001406824.1:c.3774_*8dup
NM_001406825.1:c.3774_*8dup
NM_001406826.1:c.3903_*8dup
NM_001406827.1:c.3774_*8dup
NM_001406828.1:c.3774_*8dup
NM_001406829.1:c.3165_*8dup
NM_001406830.1:c.3774_*8dup
NM_001406831.1:c.852_*8dup
NM_001406832.1:c.918_*8dup
NM_001407362.1:c.2016_*8dup
NP_000170.1:p.Ile1357_Ter(1361_?)(?)
NP_000170.1:p.Ile1357_Ter1361=
NP_001268421.1:p.Ile1227_Ter1231=
NP_001268422.1:p.Ile1055_Ter1059=
NP_001268423.1:p.Ile1055_Ter1059=
NP_001393724.1:p.Ile1389_Ter1393=
NP_001393725.1:p.Ile1357_Ter1361=
NP_001393726.1:p.Ile1258_Ter1262=
NP_001393727.1:p.Ile1299_Ter1303=
NP_001393728.1:p.Ile1182_Ter1186=
NP_001393732.1:p.Ile1069_Ter1073=
NP_001393733.1:p.Ile1331_Ter1335=
NP_001393734.1:p.Ile1258_Ter1262=
NP_001393735.1:p.Ile1182_Ter1186=
NP_001393736.1:p.Ile1182_Ter1186=
NP_001393738.1:p.Ile1357_Ter1361=
NP_001393740.1:p.Ile1055_Ter1059=
NP_001393741.1:p.Ile1055_Ter1059=
NP_001393742.1:p.Ile1359_Ter1363=
NP_001393743.1:p.Ile1055_Ter1059=
NP_001393744.1:p.Ile1055_Ter1059=
NP_001393745.1:p.Ile1055_Ter1059=
NP_001393746.1:p.Ile835_Ter839=
NP_001393747.1:p.Ile1258_Ter1262=
NP_001393748.1:p.Ile1258_Ter1262=
NP_001393749.1:p.Ile1258_Ter1262=
NP_001393750.1:p.Ile1258_Ter1262=
NP_001393752.1:p.Ile1055_Ter1059=
NP_001393753.1:p.Ile1258_Ter1262=
NP_001393754.1:p.Ile1258_Ter1262=
NP_001393755.1:p.Ile1301_Ter1305=
NP_001393756.1:p.Ile1258_Ter1262=
NP_001393757.1:p.Ile1258_Ter1262=
NP_001393758.1:p.Ile1055_Ter1059=
NP_001393759.1:p.Ile1258_Ter1262=
NP_001393760.1:p.Ile284_Ter288=
NP_001393761.1:p.Ile306_Ter310=
NP_001394291.1:p.Ile672_Ter676=
LRG_219t1:c.4071_*8dup
LRG_219:g.28702_28722dup
LRG_219p1:p.Ile1357_Ter(1361_?)(?)
NC_000002.11:g.48033987_48034007dup
NM_000179.2:c.4071_*8dup
NR_176256.1:n.3001_3021dup
NR_176257.1:n.4332_4352dup
NR_176258.1:n.4261_4281dup
NR_176259.1:n.4160_4180dup
NR_176260.1:n.2105_2125dup
NR_176261.1:n.4042_4062dup

Molecular consequence:

NM_001406800.1:c.*92_*112dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001406801.1:c.*52_*72dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001406802.1:c.*52_*72dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001406808.1:c.*52_*72dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001406822.1:c.*52_*72dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000179.3:c.4071_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001281492.2:c.3681_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001281493.2:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001281494.2:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406795.1:c.4167_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406796.1:c.4071_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406797.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406798.1:c.3897_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406799.1:c.3546_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406803.1:c.3207_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406804.1:c.3993_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406805.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406806.1:c.3546_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406807.1:c.3546_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406809.1:c.4071_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406811.1:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406812.1:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406813.1:c.4077_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406814.1:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406815.1:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406816.1:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406817.1:c.2505_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406818.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406819.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406820.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406821.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406823.1:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406824.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406825.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406826.1:c.3903_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406827.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406828.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406829.1:c.3165_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406830.1:c.3774_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406831.1:c.852_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001406832.1:c.918_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001407362.1:c.2016_*8dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NR_176256.1:n.3001_3021dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176257.1:n.4332_4352dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.4261_4281dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.4160_4180dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.4042_4062dup - 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
SCV004197698	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 26, 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

SCV004197698

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 26, 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, SCV004197698.1

#	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

ClinVar

Relating variation to medicine