NM_000179.3(MSH6):c.848_850dup (p.Gly283_Asp284insGly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 18, 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:: RCV004070114.1

Allele description [Variation Report for NM_000179.3(MSH6):c.848_850dup (p.Gly283_Asp284insGly)]

NM_000179.3(MSH6):c.848_850dup (p.Gly283_Asp284insGly)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.848_850dup (p.Gly283_Asp284insGly)

HGVS:

NC_000002.12:g.47798831_47798833dup
NG_007111.1:g.20685_20687dup
NM_000179.3:c.848_850dupMANE SELECT
NM_001281492.2:c.458_460dup
NM_001281493.2:c.-59_-57dup
NM_001281494.2:c.-59_-57dup
NM_001406795.1:c.944_946dup
NM_001406796.1:c.848_850dup
NM_001406797.1:c.551_553dup
NM_001406798.1:c.848_850dup
NM_001406799.1:c.323_325dup
NM_001406800.1:c.848_850dup
NM_001406801.1:c.551_553dup
NM_001406802.1:c.944_946dup
NM_001406803.1:c.848_850dup
NM_001406804.1:c.770_772dup
NM_001406805.1:c.551_553dup
NM_001406806.1:c.323_325dup
NM_001406807.1:c.323_325dup
NM_001406808.1:c.848_850dup
NM_001406809.1:c.848_850dup
NM_001406811.1:c.-59_-57dup
NM_001406812.1:c.-59_-57dup
NM_001406813.1:c.854_856dup
NM_001406814.1:c.-59_-57dup
NM_001406815.1:c.-59_-57dup
NM_001406816.1:c.-59_-57dup
NM_001406817.1:c.848_850dup
NM_001406818.1:c.551_553dup
NM_001406819.1:c.551_553dup
NM_001406820.1:c.551_553dup
NM_001406821.1:c.551_553dup
NM_001406822.1:c.551_553dup
NM_001406823.1:c.-59_-57dup
NM_001406824.1:c.551_553dup
NM_001406825.1:c.551_553dup
NM_001406826.1:c.680_682dup
NM_001406827.1:c.551_553dup
NM_001406828.1:c.551_553dup
NM_001406829.1:c.-59_-57dup
NM_001406830.1:c.551_553dup
NP_000170.1:p.Gly283_Asp284insGly
NP_000170.1:p.Gly283_Asp284insGly
NP_001268421.1:p.Gly153_Asp154insGly
NP_001393724.1:p.Gly315_Asp316insGly
NP_001393725.1:p.Gly283_Asp284insGly
NP_001393726.1:p.Gly184_Asp185insGly
NP_001393727.1:p.Gly283_Asp284insGly
NP_001393728.1:p.Gly108_Asp109insGly
NP_001393729.1:p.Gly283_Asp284insGly
NP_001393730.1:p.Gly184_Asp185insGly
NP_001393731.1:p.Gly315_Asp316insGly
NP_001393732.1:p.Gly283_Asp284insGly
NP_001393733.1:p.Gly257_Asp258insGly
NP_001393734.1:p.Gly184_Asp185insGly
NP_001393735.1:p.Gly108_Asp109insGly
NP_001393736.1:p.Gly108_Asp109insGly
NP_001393737.1:p.Gly283_Asp284insGly
NP_001393738.1:p.Gly283_Asp284insGly
NP_001393742.1:p.Gly285_Asp286insGly
NP_001393746.1:p.Gly283_Asp284insGly
NP_001393747.1:p.Gly184_Asp185insGly
NP_001393748.1:p.Gly184_Asp185insGly
NP_001393749.1:p.Gly184_Asp185insGly
NP_001393750.1:p.Gly184_Asp185insGly
NP_001393751.1:p.Gly184_Asp185insGly
NP_001393753.1:p.Gly184_Asp185insGly
NP_001393754.1:p.Gly184_Asp185insGly
NP_001393755.1:p.Gly227_Asp228insGly
NP_001393756.1:p.Gly184_Asp185insGly
NP_001393757.1:p.Gly184_Asp185insGly
NP_001393759.1:p.Gly184_Asp185insGly
LRG_219t1:c.848_850dup
LRG_219:g.20685_20687dup
LRG_219p1:p.Gly283_Asp284insGly
NC_000002.11:g.48025967_48025968insGGG
NC_000002.11:g.48025970_48025972dup
NM_000179.2:c.848_850dup
NM_000179.2:c.848_850dupGGG
NR_176257.1:n.937_939dup
NR_176258.1:n.937_939dup
NR_176259.1:n.937_939dup
NR_176261.1:n.937_939dup

Molecular consequence:

NM_001281493.2:c.-59_-57dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001281494.2:c.-59_-57dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406795.1:c.944_946dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406796.1:c.848_850dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406797.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406798.1:c.848_850dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406799.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406800.1:c.848_850dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406801.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406802.1:c.944_946dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406803.1:c.848_850dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406804.1:c.770_772dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406805.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406806.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406807.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406808.1:c.848_850dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406809.1:c.848_850dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406813.1:c.854_856dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406817.1:c.848_850dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406818.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406819.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406820.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406821.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406822.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406824.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406825.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406826.1:c.680_682dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406827.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406828.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406830.1:c.551_553dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_000179.3:c.848_850dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001281492.2:c.458_460dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005033388	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005033388

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 18, 2023)

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 Ambry Genetics, SCV005033388.1

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

Description

The c.848_850dupGGG variant (also known as p.G283dup), located in coding exon 4 of the MSH6 gene, results from an in-frame duplication of GGG at nucleotide positions 848 to 850. This results in the duplication of an extra glycine residue between codons 283 and 284. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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Relating variation to medicine