NM_000179.3(MSH6):c.2434C>G (p.Leu812Val) AND Endometrial carcinoma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 2, 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:: RCV003461949.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2434C>G (p.Leu812Val)]

NM_000179.3(MSH6):c.2434C>G (p.Leu812Val)

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.2434C>G (p.Leu812Val)

HGVS:

NC_000002.12:g.47800417C>G
NG_007111.1:g.22271C>G
NM_000179.3:c.2434C>GMANE SELECT
NM_001281492.2:c.2044C>G
NM_001281493.2:c.1528C>G
NM_001281494.2:c.1528C>G
NM_001406795.1:c.2530C>G
NM_001406796.1:c.2434C>G
NM_001406797.1:c.2137C>G
NM_001406798.1:c.2434C>G
NM_001406799.1:c.1909C>G
NM_001406800.1:c.2434C>G
NM_001406801.1:c.2137C>G
NM_001406802.1:c.2530C>G
NM_001406803.1:c.2308+126C>G
NM_001406804.1:c.2356C>G
NM_001406805.1:c.2137C>G
NM_001406806.1:c.1909C>G
NM_001406807.1:c.1909C>G
NM_001406808.1:c.2434C>G
NM_001406809.1:c.2434C>G
NM_001406811.1:c.1528C>G
NM_001406812.1:c.1528C>G
NM_001406813.1:c.2440C>G
NM_001406814.1:c.1528C>G
NM_001406815.1:c.1528C>G
NM_001406816.1:c.1528C>G
NM_001406817.1:c.1606+828C>G
NM_001406818.1:c.2137C>G
NM_001406819.1:c.2137C>G
NM_001406820.1:c.2137C>G
NM_001406821.1:c.2137C>G
NM_001406822.1:c.2137C>G
NM_001406823.1:c.1528C>G
NM_001406824.1:c.2137C>G
NM_001406825.1:c.2137C>G
NM_001406826.1:c.2266C>G
NM_001406827.1:c.2137C>G
NM_001406828.1:c.2137C>G
NM_001406829.1:c.1528C>G
NM_001406830.1:c.2137C>G
NM_001407362.1:c.628-249C>G
NP_000170.1:p.Leu812Val
NP_000170.1:p.Leu812Val
NP_001268421.1:p.Leu682Val
NP_001268422.1:p.Leu510Val
NP_001268423.1:p.Leu510Val
NP_001393724.1:p.Leu844Val
NP_001393725.1:p.Leu812Val
NP_001393726.1:p.Leu713Val
NP_001393727.1:p.Leu812Val
NP_001393728.1:p.Leu637Val
NP_001393729.1:p.Leu812Val
NP_001393730.1:p.Leu713Val
NP_001393731.1:p.Leu844Val
NP_001393733.1:p.Leu786Val
NP_001393734.1:p.Leu713Val
NP_001393735.1:p.Leu637Val
NP_001393736.1:p.Leu637Val
NP_001393737.1:p.Leu812Val
NP_001393738.1:p.Leu812Val
NP_001393740.1:p.Leu510Val
NP_001393741.1:p.Leu510Val
NP_001393742.1:p.Leu814Val
NP_001393743.1:p.Leu510Val
NP_001393744.1:p.Leu510Val
NP_001393745.1:p.Leu510Val
NP_001393747.1:p.Leu713Val
NP_001393748.1:p.Leu713Val
NP_001393749.1:p.Leu713Val
NP_001393750.1:p.Leu713Val
NP_001393751.1:p.Leu713Val
NP_001393752.1:p.Leu510Val
NP_001393753.1:p.Leu713Val
NP_001393754.1:p.Leu713Val
NP_001393755.1:p.Leu756Val
NP_001393756.1:p.Leu713Val
NP_001393757.1:p.Leu713Val
NP_001393758.1:p.Leu510Val
NP_001393759.1:p.Leu713Val
LRG_219t1:c.2434C>G
LRG_219:g.22271C>G
LRG_219p1:p.Leu812Val
NC_000002.11:g.48027556C>G
NM_000179.2:c.2434C>G
NR_176256.1:n.1296C>G
NR_176257.1:n.2523C>G
NR_176258.1:n.2523C>G
NR_176259.1:n.2523C>G
NR_176261.1:n.2523C>G

Protein change:

L510V

Molecular consequence:

NM_001406803.1:c.2308+126C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001406817.1:c.1606+828C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407362.1:c.628-249C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000179.3:c.2434C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.2044C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2530C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2434C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2434C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.1909C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2434C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2530C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.2356C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.1909C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.1909C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2434C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2434C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2440C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.2266C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_176256.1:n.1296C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176257.1:n.2523C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.2523C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.2523C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.2523C>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

Recent activity

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Klebsiella quasipneumoniae strain:H20-3
Klebsiella quasipneumoniae strain:H20-3
Klebsiella quasipneumoniae strain:H20-3 Genome sequencing

BioProject
Soroseris glomerata internal transcribed spacer 1, partial sequence; 5.8S riboso...
Soroseris glomerata internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|170284065|gb|EU363656.1|

Nucleotide
Mus musculus bone marrow macrophage cDNA, RIKEN full-length enriched library, cl...
Mus musculus bone marrow macrophage cDNA, RIKEN full-length enriched library, clone:I830077J02 product:weakly similar to BA552M11.4.1 (Novel protein (Isoform 1)) (Fragment) [Homo sapiens], full insert sequence
gi|74220181|dbj|AK152510.1|

Nucleotide
PREDICTED: Homo sapiens lysine acetyltransferase 6B (KAT6B), transcript variant ...
PREDICTED: Homo sapiens lysine acetyltransferase 6B (KAT6B), transcript variant X15, mRNA
gi|2462497506|ref|XM_054331606.1|

Nucleotide
histone acetyltransferase KAT6B isoform X4 [Homo sapiens]
histone acetyltransferase KAT6B isoform X4 [Homo sapiens]
gi|2462497503|ref|XP_054187579.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004195806	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 2, 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

SCV004195806

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 2, 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, SCV004195806.1

#	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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