NM_000179.3(MSH6):c.3760_3761del (p.Glu1254fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 30, 2017
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:: RCV002363846.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3760_3761del (p.Glu1254fs)]

NM_000179.3(MSH6):c.3760_3761del (p.Glu1254fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3760_3761del (p.Glu1254fs)

HGVS:

NC_000002.12:g.47806317_47806318del
NG_007111.1:g.28171_28172del
NG_008397.1:g.104359_104360del
NM_000179.3:c.3760_3761delMANE SELECT
NM_001281492.2:c.3370_3371del
NM_001281493.2:c.2854_2855del
NM_001281494.2:c.2854_2855del
NM_001406795.1:c.3856_3857delGA
NM_001406796.1:c.3760_3761delGA
NM_001406797.1:c.3463_3464delGA
NM_001406798.1:c.3586_3587delGA
NM_001406799.1:c.3235_3236delGA
NM_001406800.1:c.3760_3761delGA
NM_001406801.1:c.3463_3464delGA
NM_001406802.1:c.3856_3857delGA
NM_001406803.1:c.2896_2897delGA
NM_001406804.1:c.3682_3683delGA
NM_001406805.1:c.3463_3464delGA
NM_001406806.1:c.3235_3236delGA
NM_001406807.1:c.3235_3236delGA
NM_001406808.1:c.3760_3761delGA
NM_001406809.1:c.3760_3761delGA
NM_001406811.1:c.2854_2855delGA
NM_001406812.1:c.2854_2855delGA
NM_001406813.1:c.3766_3767delGA
NM_001406814.1:c.2854_2855delGA
NM_001406815.1:c.2854_2855delGA
NM_001406816.1:c.2854_2855delGA
NM_001406817.1:c.2194_2195delGA
NM_001406818.1:c.3463_3464delGA
NM_001406819.1:c.3463_3464delGA
NM_001406820.1:c.3463_3464delGA
NM_001406821.1:c.3463_3464delGA
NM_001406822.1:c.3463_3464delGA
NM_001406823.1:c.2854_2855delGA
NM_001406824.1:c.3463_3464delGA
NM_001406825.1:c.3463_3464delGA
NM_001406826.1:c.3592_3593delGA
NM_001406827.1:c.3463_3464delGA
NM_001406828.1:c.3463_3464delGA
NM_001406829.1:c.2854_2855delGA
NM_001406830.1:c.3463_3464delGA
NM_001406831.1:c.541_542delGA
NM_001406832.1:c.607_608delGA
NM_001407362.1:c.1705_1706delGA
NP_000170.1:p.Glu1254Argfs
NP_000170.1:p.Glu1254fs
NP_001268421.1:p.Glu1124fs
NP_001268422.1:p.Glu952fs
NP_001268423.1:p.Glu952fs
NP_001393724.1:p.Glu1286Argfs
NP_001393725.1:p.Glu1254Argfs
NP_001393726.1:p.Glu1155Argfs
NP_001393727.1:p.Glu1196Argfs
NP_001393728.1:p.Glu1079Argfs
NP_001393729.1:p.Glu1254Argfs
NP_001393730.1:p.Glu1155Argfs
NP_001393731.1:p.Glu1286Argfs
NP_001393732.1:p.Glu966Argfs
NP_001393733.1:p.Glu1228Argfs
NP_001393734.1:p.Glu1155Argfs
NP_001393735.1:p.Glu1079Argfs
NP_001393736.1:p.Glu1079Argfs
NP_001393737.1:p.Glu1254Argfs
NP_001393738.1:p.Glu1254Argfs
NP_001393740.1:p.Glu952Argfs
NP_001393741.1:p.Glu952Argfs
NP_001393742.1:p.Glu1256Argfs
NP_001393743.1:p.Glu952Argfs
NP_001393744.1:p.Glu952Argfs
NP_001393745.1:p.Glu952Argfs
NP_001393746.1:p.Glu732Argfs
NP_001393747.1:p.Glu1155Argfs
NP_001393748.1:p.Glu1155Argfs
NP_001393749.1:p.Glu1155Argfs
NP_001393750.1:p.Glu1155Argfs
NP_001393751.1:p.Glu1155Argfs
NP_001393752.1:p.Glu952Argfs
NP_001393753.1:p.Glu1155Argfs
NP_001393754.1:p.Glu1155Argfs
NP_001393755.1:p.Glu1198Argfs
NP_001393756.1:p.Glu1155Argfs
NP_001393757.1:p.Glu1155Argfs
NP_001393758.1:p.Glu952Argfs
NP_001393759.1:p.Glu1155Argfs
NP_001393760.1:p.Glu181Argfs
NP_001393761.1:p.Glu203Argfs
NP_001394291.1:p.Glu569Argfs
LRG_219t1:c.3760_3761del
LRG_219:g.28171_28172del
LRG_219p1:p.Glu1254Argfs
NC_000002.11:g.48033456_48033457del
NM_000179.2:c.3760_3761delGA
NR_176256.1:n.2690_2691delGA
NR_176257.1:n.4021_4022delGA
NR_176258.1:n.3950_3951delGA
NR_176259.1:n.3849_3850delGA
NR_176260.1:n.1794_1795delGA
NR_176261.1:n.3731_3732delGA

Protein change:

E1124fs

Molecular consequence:

NM_000179.3:c.3760_3761del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3370_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.2854_2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.2854_2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406795.1:c.3856_3857delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406796.1:c.3760_3761delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406797.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406798.1:c.3586_3587delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406799.1:c.3235_3236delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406800.1:c.3760_3761delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406801.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406802.1:c.3856_3857delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406803.1:c.2896_2897delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406804.1:c.3682_3683delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406805.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406806.1:c.3235_3236delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406807.1:c.3235_3236delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406808.1:c.3760_3761delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406809.1:c.3760_3761delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406811.1:c.2854_2855delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406812.1:c.2854_2855delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406813.1:c.3766_3767delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406814.1:c.2854_2855delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406815.1:c.2854_2855delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406816.1:c.2854_2855delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406817.1:c.2194_2195delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406818.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406819.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406820.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406821.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406822.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406823.1:c.2854_2855delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406824.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406825.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406826.1:c.3592_3593delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406827.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406828.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406829.1:c.2854_2855delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406830.1:c.3463_3464delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406831.1:c.541_542delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406832.1:c.607_608delGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407362.1:c.1705_1706delGA - 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

POU domain, class 5, transcription factor 1 isoform 1 [Mus musculus]
POU domain, class 5, transcription factor 1 isoform 1 [Mus musculus]
gi|125490392|ref|NP_038661.2|

Protein

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
SCV002625927	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 30, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002625927

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 30, 2017)

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, SCV002625927.2

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

Description

The c.3760_3761delGA variant, located in coding exon 8 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 3760 to 3761, causing a translational frameshift with a predicted alternate stop codon (p.E1254Rfs*20). 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