NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2018
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:: RCV000781592.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu)]

NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu)

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.2410A>G (p.Lys804Glu)

HGVS:

NC_000002.12:g.47800393A>G
NG_007111.1:g.22247A>G
NM_000179.3:c.2410A>GMANE SELECT
NM_001281492.2:c.2020A>G
NM_001281493.2:c.1504A>G
NM_001281494.2:c.1504A>G
NP_000170.1:p.Lys804Glu
NP_000170.1:p.Lys804Glu
NP_001268421.1:p.Lys674Glu
NP_001268422.1:p.Lys502Glu
NP_001268423.1:p.Lys502Glu
LRG_219t1:c.2410A>G
LRG_219:g.22247A>G
LRG_219p1:p.Lys804Glu
NC_000002.11:g.48027532A>G
NM_000179.2:c.2410A>G

Protein change:

K502E

Links:

dbSNP: rs1064793552

NCBI 1000 Genomes Browser:

rs1064793552

Molecular consequence:

NM_000179.3:c.2410A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.2020A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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L-fucokinase/GDP-L-fucose pyrophosphorylase [Trifolium repens]
L-fucokinase/GDP-L-fucose pyrophosphorylase [Trifolium repens]
gi|2583125944|gb|KAK2424067.1||gnl| AVQLX|drTriRepe4Chr6g412600.1.cds

Protein
Leishmania major strain Friedlin alpha tubulin partial mRNA
Leishmania major strain Friedlin alpha tubulin partial mRNA
gi|157866133|ref|XM_001681721.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000919759	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 14, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000919759

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 14, 2018)

germline

clinical testing

Citation Link

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919759.1

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

Description

Variant summary: MSH6 c.2410A>G (p.Lys804Glu) results in a conservative amino acid change located in the DNA mismatch repair protein MutS, core domain of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 245332 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2410A>G in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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 8, 2024

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