NM_000179.3(MSH6):c.2278_2296del (p.Glu760fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 19, 2019
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:: RCV002446031.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2278_2296del (p.Glu760fs)]

NM_000179.3(MSH6):c.2278_2296del (p.Glu760fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.2278_2296del (p.Glu760fs)

HGVS:

NC_000002.12:g.47800261_47800279del
NG_007111.1:g.22115_22133del
NM_000179.3:c.2278_2296delMANE SELECT
NM_001281492.2:c.1888_1906del
NM_001281493.2:c.1372_1390del
NM_001281494.2:c.1372_1390del
NM_001406795.1:c.2374_2392del19
NM_001406796.1:c.2278_2296del19
NM_001406797.1:c.1981_1999del19
NM_001406798.1:c.2278_2296del19
NM_001406799.1:c.1753_1771del19
NM_001406800.1:c.2278_2296del19
NM_001406801.1:c.1981_1999del19
NM_001406802.1:c.2374_2392del19
NM_001406803.1:c.2278_2296del19
NM_001406804.1:c.2200_2218del19
NM_001406805.1:c.1981_1999del19
NM_001406806.1:c.1753_1771del19
NM_001406807.1:c.1753_1771del19
NM_001406808.1:c.2278_2296del19
NM_001406809.1:c.2278_2296del19
NM_001406811.1:c.1372_1390del19
NM_001406812.1:c.1372_1390del19
NM_001406813.1:c.2284_2302del19
NM_001406814.1:c.1372_1390del19
NM_001406815.1:c.1372_1390del19
NM_001406816.1:c.1372_1390del19
NM_001406818.1:c.1981_1999del19
NM_001406819.1:c.1981_1999del19
NM_001406820.1:c.1981_1999del19
NM_001406821.1:c.1981_1999del19
NM_001406822.1:c.1981_1999del19
NM_001406823.1:c.1372_1390del19
NM_001406824.1:c.1981_1999del19
NM_001406825.1:c.1981_1999del19
NM_001406826.1:c.2110_2128del19
NM_001406827.1:c.1981_1999del19
NM_001406828.1:c.1981_1999del19
NM_001406829.1:c.1372_1390del19
NM_001406830.1:c.1981_1999del19
NP_000170.1:p.Glu760Ilefs
NP_000170.1:p.Glu760fs
NP_001268421.1:p.Glu630fs
NP_001268422.1:p.Glu458fs
NP_001268423.1:p.Glu458fs
NP_001393724.1:p.Glu792Ilefs
NP_001393725.1:p.Glu760Ilefs
NP_001393726.1:p.Glu661Ilefs
NP_001393727.1:p.Glu760Ilefs
NP_001393728.1:p.Glu585Ilefs
NP_001393729.1:p.Glu760Ilefs
NP_001393730.1:p.Glu661Ilefs
NP_001393731.1:p.Glu792Ilefs
NP_001393732.1:p.Glu760Ilefs
NP_001393733.1:p.Glu734Ilefs
NP_001393734.1:p.Glu661Ilefs
NP_001393735.1:p.Glu585Ilefs
NP_001393736.1:p.Glu585Ilefs
NP_001393737.1:p.Glu760Ilefs
NP_001393738.1:p.Glu760Ilefs
NP_001393740.1:p.Glu458Ilefs
NP_001393741.1:p.Glu458Ilefs
NP_001393742.1:p.Glu762Ilefs
NP_001393743.1:p.Glu458Ilefs
NP_001393744.1:p.Glu458Ilefs
NP_001393745.1:p.Glu458Ilefs
NP_001393747.1:p.Glu661Ilefs
NP_001393748.1:p.Glu661Ilefs
NP_001393749.1:p.Glu661Ilefs
NP_001393750.1:p.Glu661Ilefs
NP_001393751.1:p.Glu661Ilefs
NP_001393752.1:p.Glu458Ilefs
NP_001393753.1:p.Glu661Ilefs
NP_001393754.1:p.Glu661Ilefs
NP_001393755.1:p.Glu704Ilefs
NP_001393756.1:p.Glu661Ilefs
NP_001393757.1:p.Glu661Ilefs
NP_001393758.1:p.Glu458Ilefs
NP_001393759.1:p.Glu661Ilefs
LRG_219t1:c.2278_2296del19
LRG_219:g.22115_22133del
LRG_219p1:p.Glu760Ilefs
NC_000002.11:g.48027400_48027418del
NM_000179.2:c.2278_2296del19
NR_176256.1:n.1140_1158del19
NR_176257.1:n.2367_2385del19
NR_176258.1:n.2367_2385del19
NR_176259.1:n.2367_2385del19
NR_176261.1:n.2367_2385del19

Protein change:

E458fs

Molecular consequence:

NM_000179.3:c.2278_2296del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.1888_1906del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.1372_1390del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.1372_1390del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406795.1:c.2374_2392del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406796.1:c.2278_2296del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406797.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406798.1:c.2278_2296del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406799.1:c.1753_1771del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406800.1:c.2278_2296del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406801.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406802.1:c.2374_2392del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406803.1:c.2278_2296del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406804.1:c.2200_2218del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406805.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406806.1:c.1753_1771del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406807.1:c.1753_1771del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406808.1:c.2278_2296del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406809.1:c.2278_2296del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406811.1:c.1372_1390del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406812.1:c.1372_1390del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406813.1:c.2284_2302del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406814.1:c.1372_1390del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406815.1:c.1372_1390del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406816.1:c.1372_1390del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406818.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406819.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406820.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406821.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406822.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406823.1:c.1372_1390del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406824.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406825.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406826.1:c.2110_2128del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406827.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406828.1:c.1981_1999del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406829.1:c.1372_1390del19 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406830.1:c.1981_1999del19 - 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
SCV002733323	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002733323

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 19, 2019)

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, SCV002733323.2

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

Description

The c.2278_2296del19 pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of 19 nucleotides at nucleotide positions 2278 to 2296, causing a translational frameshift with a predicted alternate stop codon (p.E760Ifs*9). 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