NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 5, 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:: RCV000485186.4

Allele description [Variation Report for NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)]

NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)

HGVS:

NC_000002.12:g.47806498_47806500dup
NG_007111.1:g.28352_28354dup
NG_008397.1:g.104178_104180dup
NM_000179.3:c.3848_3850dupMANE SELECT
NM_001281492.2:c.3458_3460dup
NM_001281493.2:c.2942_2944dup
NM_001281494.2:c.2942_2944dup
NP_000170.1:p.Ile1283dup
NP_000170.1:p.Ile1283dup
NP_001268421.1:p.Ile1153dup
NP_001268422.1:p.Ile981dup
NP_001268423.1:p.Ile981dup
LRG_219t1:c.3848_3850dup
LRG_219:g.28352_28354dup
LRG_219p1:p.Ile1283dup
NC_000002.11:g.48033634_48033635insTAT
NC_000002.11:g.48033637_48033639dup
NM_000179.2:c.3848_3850dup
NM_000179.2:c.3848_3850dupTTA
NM_000179.3:c.3848_3850dupTTAMANE SELECT

Links:

dbSNP: rs1553333420

NCBI 1000 Genomes Browser:

rs1553333420

Molecular consequence:

NM_000179.3:c.3848_3850dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001281492.2:c.3458_3460dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001281493.2:c.2942_2944dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001281494.2:c.2942_2944dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569625	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569625

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 5, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000569625.5

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

Description

In-frame duplication of 1 amino acid in a non-repeat region; Observed in at least two individuals suspected of having Lynch syndrome, and was identified at similar frequencies between Icelandic colorectal cancer patients and controls (p=0.69) (Lagerstedt-Robinson et al., 2016; Haraldsdottir et al., 2017); This variant is associated with the following publications: (PMID: 24689082, 28466842, 17531815, 21120944, 27601186)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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