NM_000179.3(MSH6):c.2419G>C (p.Glu807Gln) AND Hereditary nonpolyposis colorectal neoplasms

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 19, 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:: RCV003759734.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2419G>C (p.Glu807Gln)]

NM_000179.3(MSH6):c.2419G>C (p.Glu807Gln)

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.2419G>C (p.Glu807Gln)

HGVS:

NC_000002.12:g.47800402G>C
NG_007111.1:g.22256G>C
NM_000179.3:c.2419G>CMANE SELECT
NM_001281492.2:c.2029G>C
NM_001281493.2:c.1513G>C
NM_001281494.2:c.1513G>C
NM_001406795.1:c.2515G>C
NM_001406796.1:c.2419G>C
NM_001406797.1:c.2122G>C
NM_001406798.1:c.2419G>C
NM_001406799.1:c.1894G>C
NM_001406800.1:c.2419G>C
NM_001406801.1:c.2122G>C
NM_001406802.1:c.2515G>C
NM_001406804.1:c.2341G>C
NM_001406805.1:c.2122G>C
NM_001406806.1:c.1894G>C
NM_001406807.1:c.1894G>C
NM_001406808.1:c.2419G>C
NM_001406809.1:c.2419G>C
NM_001406811.1:c.1513G>C
NM_001406812.1:c.1513G>C
NM_001406813.1:c.2425G>C
NM_001406814.1:c.1513G>C
NM_001406815.1:c.1513G>C
NM_001406816.1:c.1513G>C
NM_001406818.1:c.2122G>C
NM_001406819.1:c.2122G>C
NM_001406820.1:c.2122G>C
NM_001406821.1:c.2122G>C
NM_001406822.1:c.2122G>C
NM_001406823.1:c.1513G>C
NM_001406824.1:c.2122G>C
NM_001406825.1:c.2122G>C
NM_001406826.1:c.2251G>C
NM_001406827.1:c.2122G>C
NM_001406828.1:c.2122G>C
NM_001406829.1:c.1513G>C
NM_001406830.1:c.2122G>C
NP_000170.1:p.Glu807Gln
NP_000170.1:p.Glu807Gln
NP_001268421.1:p.Glu677Gln
NP_001268422.1:p.Glu505Gln
NP_001268423.1:p.Glu505Gln
NP_001393724.1:p.Glu839Gln
NP_001393725.1:p.Glu807Gln
NP_001393726.1:p.Glu708Gln
NP_001393727.1:p.Glu807Gln
NP_001393728.1:p.Glu632Gln
NP_001393729.1:p.Glu807Gln
NP_001393730.1:p.Glu708Gln
NP_001393731.1:p.Glu839Gln
NP_001393733.1:p.Glu781Gln
NP_001393734.1:p.Glu708Gln
NP_001393735.1:p.Glu632Gln
NP_001393736.1:p.Glu632Gln
NP_001393737.1:p.Glu807Gln
NP_001393738.1:p.Glu807Gln
NP_001393740.1:p.Glu505Gln
NP_001393741.1:p.Glu505Gln
NP_001393742.1:p.Glu809Gln
NP_001393743.1:p.Glu505Gln
NP_001393744.1:p.Glu505Gln
NP_001393745.1:p.Glu505Gln
NP_001393747.1:p.Glu708Gln
NP_001393748.1:p.Glu708Gln
NP_001393749.1:p.Glu708Gln
NP_001393750.1:p.Glu708Gln
NP_001393751.1:p.Glu708Gln
NP_001393752.1:p.Glu505Gln
NP_001393753.1:p.Glu708Gln
NP_001393754.1:p.Glu708Gln
NP_001393755.1:p.Glu751Gln
NP_001393756.1:p.Glu708Gln
NP_001393757.1:p.Glu708Gln
NP_001393758.1:p.Glu505Gln
NP_001393759.1:p.Glu708Gln
LRG_219t1:c.2419G>C
LRG_219:g.22256G>C
LRG_219p1:p.Glu807Gln
NC_000002.11:g.48027541G>C
NM_000179.2:c.2419G>C
NR_176256.1:n.1281G>C
NR_176257.1:n.2508G>C
NR_176258.1:n.2508G>C
NR_176259.1:n.2508G>C
NR_176261.1:n.2508G>C

Protein change:

E505Q

Molecular consequence:

NM_000179.3:c.2419G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.2029G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2515G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2419G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2419G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.1894G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2419G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2515G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.2341G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.1894G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.1894G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2419G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2419G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2425G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.2251G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.2122G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary nonpolyposis colorectal neoplasms
Identifiers:: MeSH: D003123; MedGen: C0009405

Recent activity

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Bos taurus diacylglycerol O-acyltransferase 2 (DGAT2), mRNA
Bos taurus diacylglycerol O-acyltransferase 2 (DGAT2), mRNA
gi|148232524|ref|NM_205793.2|

Nucleotide
Archboldomys maximus voucher FMNH 193522 interphotoreceptor retinoid binding pro...
Archboldomys maximus voucher FMNH 193522 interphotoreceptor retinoid binding protein (IRBP) gene, partial cds
gi|400296212|gb|JQ898078.1|

Nucleotide
SRP109176 (2)
SRA
Fundulus parvipinnis isolate FunBAT6 D-loop, partial sequence; mitochondrial
Fundulus parvipinnis isolate FunBAT6 D-loop, partial sequence; mitochondrial
gi|1336422710|gb|KY464829.1|

Nucleotide
Homo sapiens myosin heavy chain 14 (MYH14), transcript variant 2, mRNA
Homo sapiens myosin heavy chain 14 (MYH14), transcript variant 2, mRNA
gi|116284393|ref|NM_024729.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004534962	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Mar 19, 2023)	germline	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

SCV004534962

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Mar 19, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004534962.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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