NM_000179.3(MSH6):c.2253_2254inv (p.Gly752Ser) AND Hereditary nonpolyposis colorectal neoplasms

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 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:: RCV003594924.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2253_2254inv (p.Gly752Ser)]

NM_000179.3(MSH6):c.2253_2254inv (p.Gly752Ser)

Gene:

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

Variant type:

Inversion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.2253_2254inv (p.Gly752Ser)

HGVS:

NC_000002.12:g.47800236_47800237inv
NG_007111.1:g.22090_22091inv
NM_000179.3:c.2253_2254invMANE SELECT
NM_001281492.2:c.1863_1864inv
NM_001281493.2:c.1347_1348inv
NM_001281494.2:c.1347_1348inv
NM_001406795.1:c.2349_2350inv
NM_001406796.1:c.2253_2254inv
NM_001406797.1:c.1956_1957inv
NM_001406798.1:c.2253_2254inv
NM_001406799.1:c.1728_1729inv
NM_001406800.1:c.2253_2254inv
NM_001406801.1:c.1956_1957inv
NM_001406802.1:c.2349_2350inv
NM_001406803.1:c.2253_2254inv
NM_001406804.1:c.2175_2176inv
NM_001406805.1:c.1956_1957inv
NM_001406806.1:c.1728_1729inv
NM_001406807.1:c.1728_1729inv
NM_001406808.1:c.2253_2254inv
NM_001406809.1:c.2253_2254inv
NM_001406811.1:c.1347_1348inv
NM_001406812.1:c.1347_1348inv
NM_001406813.1:c.2259_2260inv
NM_001406814.1:c.1347_1348inv
NM_001406815.1:c.1347_1348inv
NM_001406816.1:c.1347_1348inv
NM_001406817.1:c.1606+647_1606+648inv
NM_001406818.1:c.1956_1957inv
NM_001406819.1:c.1956_1957inv
NM_001406820.1:c.1956_1957inv
NM_001406821.1:c.1956_1957inv
NM_001406822.1:c.1956_1957inv
NM_001406823.1:c.1347_1348inv
NM_001406824.1:c.1956_1957inv
NM_001406825.1:c.1956_1957inv
NM_001406826.1:c.2085_2086inv
NM_001406827.1:c.1956_1957inv
NM_001406828.1:c.1956_1957inv
NM_001406829.1:c.1347_1348inv
NM_001406830.1:c.1956_1957inv
NM_001407362.1:c.628-430_628-429inv
NP_000170.1:p.Gly752Ser
NP_000170.1:p.Gly752Ser
NP_001268421.1:p.Gly622Ser
NP_001268422.1:p.Gly450Ser
NP_001268423.1:p.Gly450Ser
NP_001393724.1:p.Gly784Ser
NP_001393725.1:p.Gly752Ser
NP_001393726.1:p.Gly653Ser
NP_001393727.1:p.Gly752Ser
NP_001393728.1:p.Gly577Ser
NP_001393729.1:p.Gly752Ser
NP_001393730.1:p.Gly653Ser
NP_001393731.1:p.Gly784Ser
NP_001393732.1:p.Gly752Ser
NP_001393733.1:p.Gly726Ser
NP_001393734.1:p.Gly653Ser
NP_001393735.1:p.Gly577Ser
NP_001393736.1:p.Gly577Ser
NP_001393737.1:p.Gly752Ser
NP_001393738.1:p.Gly752Ser
NP_001393740.1:p.Gly450Ser
NP_001393741.1:p.Gly450Ser
NP_001393742.1:p.Gly754Ser
NP_001393743.1:p.Gly450Ser
NP_001393744.1:p.Gly450Ser
NP_001393745.1:p.Gly450Ser
NP_001393747.1:p.Gly653Ser
NP_001393748.1:p.Gly653Ser
NP_001393749.1:p.Gly653Ser
NP_001393750.1:p.Gly653Ser
NP_001393751.1:p.Gly653Ser
NP_001393752.1:p.Gly450Ser
NP_001393753.1:p.Gly653Ser
NP_001393754.1:p.Gly653Ser
NP_001393755.1:p.Gly696Ser
NP_001393756.1:p.Gly653Ser
NP_001393757.1:p.Gly653Ser
NP_001393758.1:p.Gly450Ser
NP_001393759.1:p.Gly653Ser
LRG_219t1:c.2253_2254invTG
LRG_219:g.22090_22091inv
LRG_219p1:p.Gly752Ser
NC_000002.11:g.48027375_48027376delinsCA
NC_000002.11:g.48027375_48027376inv
NM_000179.2:c.2253_2254delTGinsCA
NM_000179.2:c.2253_2254invTG
NR_176256.1:n.1115_1116inv
NR_176257.1:n.2342_2343inv
NR_176258.1:n.2342_2343inv
NR_176259.1:n.2342_2343inv
NR_176261.1:n.2342_2343inv

Protein change:

G450S

Molecular consequence:

NM_001406817.1:c.1606+647_1606+648inv - intron variant - [Sequence Ontology: SO:0001627]
NM_001407362.1:c.628-430_628-429inv - intron variant - [Sequence Ontology: SO:0001627]
NM_000179.3:c.2253_2254inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1863_1864inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406795.1:c.2349_2350inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406796.1:c.2253_2254inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406797.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406798.1:c.2253_2254inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406799.1:c.1728_1729inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406800.1:c.2253_2254inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406801.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406802.1:c.2349_2350inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406803.1:c.2253_2254inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406804.1:c.2175_2176inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406805.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406806.1:c.1728_1729inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406807.1:c.1728_1729inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406808.1:c.2253_2254inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406809.1:c.2253_2254inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406811.1:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406812.1:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406813.1:c.2259_2260inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406814.1:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406815.1:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406816.1:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406818.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406819.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406820.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406821.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406822.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406823.1:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406824.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406825.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406826.1:c.2085_2086inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406827.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406828.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406829.1:c.1347_1348inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001406830.1:c.1956_1957inv - missense variant - [Sequence Ontology: SO:0001583]
NR_176256.1:n.1115_1116inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176257.1:n.2342_2343inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.2342_2343inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.2342_2343inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.2342_2343inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Homo sapiens ferritin, light polypeptide, mRNA (cDNA clone MGC:24228 IMAGE:38391...
Homo sapiens ferritin, light polypeptide, mRNA (cDNA clone MGC:24228 IMAGE:3839120), complete cds
gi|15530276|gb|BC013928.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004250522	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 9, 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

SCV004250522

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 9, 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, SCV004250522.1

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

Description

This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 752 of the MSH6 protein (p.Gly752Ser). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with MSH6-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of 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: Sep 29, 2024

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