NM_000179.3(MSH6):c.2228_2229insAT (p.Glu744fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2021
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:: RCV002428163.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2228_2229insAT (p.Glu744fs)]

NM_000179.3(MSH6):c.2228_2229insAT (p.Glu744fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.2228_2229insAT (p.Glu744fs)

HGVS:

NC_000002.12:g.47800211_47800212insAT
NG_007111.1:g.22065_22066insAT
NM_000179.3:c.2228_2229insATMANE SELECT
NM_001281492.2:c.1838_1839insAT
NM_001281493.2:c.1322_1323insAT
NM_001281494.2:c.1322_1323insAT
NM_001406795.1:c.2324_2325insAT
NM_001406796.1:c.2228_2229insAT
NM_001406797.1:c.1931_1932insAT
NM_001406798.1:c.2228_2229insAT
NM_001406799.1:c.1703_1704insAT
NM_001406800.1:c.2228_2229insAT
NM_001406801.1:c.1931_1932insAT
NM_001406802.1:c.2324_2325insAT
NM_001406803.1:c.2228_2229insAT
NM_001406804.1:c.2150_2151insAT
NM_001406805.1:c.1931_1932insAT
NM_001406806.1:c.1703_1704insAT
NM_001406807.1:c.1703_1704insAT
NM_001406808.1:c.2228_2229insAT
NM_001406809.1:c.2228_2229insAT
NM_001406811.1:c.1322_1323insAT
NM_001406812.1:c.1322_1323insAT
NM_001406813.1:c.2234_2235insAT
NM_001406814.1:c.1322_1323insAT
NM_001406815.1:c.1322_1323insAT
NM_001406816.1:c.1322_1323insAT
NM_001406818.1:c.1931_1932insAT
NM_001406819.1:c.1931_1932insAT
NM_001406820.1:c.1931_1932insAT
NM_001406821.1:c.1931_1932insAT
NM_001406822.1:c.1931_1932insAT
NM_001406823.1:c.1322_1323insAT
NM_001406824.1:c.1931_1932insAT
NM_001406825.1:c.1931_1932insAT
NM_001406826.1:c.2060_2061insAT
NM_001406827.1:c.1931_1932insAT
NM_001406828.1:c.1931_1932insAT
NM_001406829.1:c.1322_1323insAT
NM_001406830.1:c.1931_1932insAT
NP_000170.1:p.Glu744Trpfs
NP_000170.1:p.Glu744fs
NP_001268421.1:p.Glu614fs
NP_001268422.1:p.Glu442fs
NP_001268423.1:p.Glu442fs
NP_001393724.1:p.Glu776Trpfs
NP_001393725.1:p.Glu744Trpfs
NP_001393726.1:p.Glu645Trpfs
NP_001393727.1:p.Glu744Trpfs
NP_001393728.1:p.Glu569Trpfs
NP_001393729.1:p.Glu744Trpfs
NP_001393730.1:p.Glu645Trpfs
NP_001393731.1:p.Glu776Trpfs
NP_001393732.1:p.Glu744Trpfs
NP_001393733.1:p.Glu718Trpfs
NP_001393734.1:p.Glu645Trpfs
NP_001393735.1:p.Glu569Trpfs
NP_001393736.1:p.Glu569Trpfs
NP_001393737.1:p.Glu744Trpfs
NP_001393738.1:p.Glu744Trpfs
NP_001393740.1:p.Glu442Trpfs
NP_001393741.1:p.Glu442Trpfs
NP_001393742.1:p.Glu746Trpfs
NP_001393743.1:p.Glu442Trpfs
NP_001393744.1:p.Glu442Trpfs
NP_001393745.1:p.Glu442Trpfs
NP_001393747.1:p.Glu645Trpfs
NP_001393748.1:p.Glu645Trpfs
NP_001393749.1:p.Glu645Trpfs
NP_001393750.1:p.Glu645Trpfs
NP_001393751.1:p.Glu645Trpfs
NP_001393752.1:p.Glu442Trpfs
NP_001393753.1:p.Glu645Trpfs
NP_001393754.1:p.Glu645Trpfs
NP_001393755.1:p.Glu688Trpfs
NP_001393756.1:p.Glu645Trpfs
NP_001393757.1:p.Glu645Trpfs
NP_001393758.1:p.Glu442Trpfs
NP_001393759.1:p.Glu645Trpfs
LRG_219t1:c.2228_2229insAT
LRG_219:g.22065_22066insAT
LRG_219p1:p.Glu744Trpfs
NC_000002.11:g.48027350_48027351insAT
NM_000179.2:c.2228_2229insAT
NR_176256.1:n.1090_1091insAT
NR_176257.1:n.2317_2318insAT
NR_176258.1:n.2317_2318insAT
NR_176259.1:n.2317_2318insAT
NR_176261.1:n.2317_2318insAT

Protein change:

E442fs

Molecular consequence:

NM_000179.3:c.2228_2229insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.1838_1839insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406795.1:c.2324_2325insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406796.1:c.2228_2229insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406797.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406798.1:c.2228_2229insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406799.1:c.1703_1704insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406800.1:c.2228_2229insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406801.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406802.1:c.2324_2325insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406803.1:c.2228_2229insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406804.1:c.2150_2151insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406805.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406806.1:c.1703_1704insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406807.1:c.1703_1704insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406808.1:c.2228_2229insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406809.1:c.2228_2229insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406811.1:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406812.1:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406813.1:c.2234_2235insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406814.1:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406815.1:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406816.1:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406818.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406819.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406820.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406821.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406822.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406823.1:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406824.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406825.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406826.1:c.2060_2061insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406827.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406828.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406829.1:c.1322_1323insAT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406830.1:c.1931_1932insAT - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Thelypteris palustris]
gi|1699896373|dbj|BBC77383.1|

Protein
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Dryopteris quaylei]
gi|2024781529|gb|QTS03844.1|

Protein
Homologene neighbors for GEO Profiles (Select 98526844) (0)
GEO Profiles
Profile neighbors for GEO Profiles (Select 131348072) (199)
GEO Profiles
Profile neighbors for GEO Profiles (Select 131345298) (199)
GEO Profiles

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002728871	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002728871

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 15, 2021)

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, SCV002728871.2

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

Description

The c.2228_2229insAT pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from an insertion of two nucleotides at position 2228, causing a translational frameshift with a predicted alternate stop codon (p.E744Wfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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 1, 2024

ClinVar

Relating variation to medicine