NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs) AND Lynch syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 28, 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:: RCV003454144.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)]

NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)

HGVS:

NC_000002.12:g.47806577_47806589dup
NG_007111.1:g.28431_28443dup
NG_008397.1:g.104087_104099dup
NM_000179.3:c.3927_3939dupMANE SELECT
NM_001281492.2:c.3537_3549dup
NM_001281493.2:c.3021_3033dup
NM_001281494.2:c.3021_3033dup
NM_001406795.1:c.4023_4035dup
NM_001406796.1:c.3927_3939dup
NM_001406797.1:c.3630_3642dup
NM_001406798.1:c.3753_3765dup
NM_001406799.1:c.3402_3414dup
NM_001406800.1:c.3914_3926dup
NM_001406801.1:c.3630_3642dup
NM_001406803.1:c.3063_3075dup
NM_001406804.1:c.3849_3861dup
NM_001406805.1:c.3630_3642dup
NM_001406806.1:c.3402_3414dup
NM_001406807.1:c.3402_3414dup
NM_001406808.1:c.3927_3939dup
NM_001406809.1:c.3927_3939dup
NM_001406811.1:c.3021_3033dup
NM_001406812.1:c.3021_3033dup
NM_001406813.1:c.3933_3945dup
NM_001406814.1:c.3021_3033dup
NM_001406815.1:c.3021_3033dup
NM_001406816.1:c.3021_3033dup
NM_001406817.1:c.2361_2373dup
NM_001406818.1:c.3630_3642dup
NM_001406819.1:c.3630_3642dup
NM_001406820.1:c.3630_3642dup
NM_001406821.1:c.3630_3642dup
NM_001406822.1:c.3630_3642dup
NM_001406823.1:c.3021_3033dup
NM_001406824.1:c.3630_3642dup
NM_001406825.1:c.3630_3642dup
NM_001406826.1:c.3759_3771dup
NM_001406827.1:c.3630_3642dup
NM_001406828.1:c.3630_3642dup
NM_001406829.1:c.3021_3033dup
NM_001406830.1:c.3630_3642dup
NM_001406831.1:c.708_720dup
NM_001406832.1:c.774_786dup
NM_001407362.1:c.1872_1884dup
NP_000170.1:p.Gln1314Argfs
NP_000170.1:p.Gln1314fs
NP_001268421.1:p.Gln1184fs
NP_001268422.1:p.Gln1012fs
NP_001268423.1:p.Gln1012fs
NP_001393724.1:p.Gln1346Argfs
NP_001393725.1:p.Gln1314Argfs
NP_001393726.1:p.Gln1215Argfs
NP_001393727.1:p.Gln1256Argfs
NP_001393728.1:p.Gln1139Argfs
NP_001393729.1:p.Phe1309Leufs
NP_001393730.1:p.Gln1215Argfs
NP_001393732.1:p.Gln1026Argfs
NP_001393733.1:p.Gln1288Argfs
NP_001393734.1:p.Gln1215Argfs
NP_001393735.1:p.Gln1139Argfs
NP_001393736.1:p.Gln1139Argfs
NP_001393737.1:p.Gln1314Argfs
NP_001393738.1:p.Gln1314Argfs
NP_001393740.1:p.Gln1012Argfs
NP_001393741.1:p.Gln1012Argfs
NP_001393742.1:p.Gln1316Argfs
NP_001393743.1:p.Gln1012Argfs
NP_001393744.1:p.Gln1012Argfs
NP_001393745.1:p.Gln1012Argfs
NP_001393746.1:p.Gln792Argfs
NP_001393747.1:p.Gln1215Argfs
NP_001393748.1:p.Gln1215Argfs
NP_001393749.1:p.Gln1215Argfs
NP_001393750.1:p.Gln1215Argfs
NP_001393751.1:p.Gln1215Argfs
NP_001393752.1:p.Gln1012Argfs
NP_001393753.1:p.Gln1215Argfs
NP_001393754.1:p.Gln1215Argfs
NP_001393755.1:p.Gln1258Argfs
NP_001393756.1:p.Gln1215Argfs
NP_001393757.1:p.Gln1215Argfs
NP_001393758.1:p.Gln1012Argfs
NP_001393759.1:p.Gln1215Argfs
NP_001393760.1:p.Gln241Argfs
NP_001393761.1:p.Gln263Argfs
NP_001394291.1:p.Gln629Argfs
LRG_219t1:c.3927_3939dup
LRG_219:g.28431_28443dup
LRG_219p1:p.Gln1314Argfs
NC_000002.11:g.48033715_48033716insAGAGGAAGTTATT
NC_000002.11:g.48033716_48033728dup
NM_000179.2:c.3927_3939dup
NM_000179.2:c.3927_3939dupAGAGGAAGTTATT
NR_176256.1:n.2857_2869dup
NR_176257.1:n.4188_4200dup
NR_176258.1:n.4117_4129dup
NR_176259.1:n.4016_4028dup
NR_176260.1:n.1961_1973dup
NR_176261.1:n.3898_3910dup

Protein change:

Q1012fs

Molecular consequence:

NM_000179.3:c.3927_3939dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3537_3549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406795.1:c.4023_4035dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406796.1:c.3927_3939dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406797.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406798.1:c.3753_3765dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406799.1:c.3402_3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406800.1:c.3914_3926dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406801.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406803.1:c.3063_3075dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406804.1:c.3849_3861dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406805.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406806.1:c.3402_3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406807.1:c.3402_3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406808.1:c.3927_3939dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406809.1:c.3927_3939dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406811.1:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406812.1:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406813.1:c.3933_3945dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406814.1:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406815.1:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406816.1:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406817.1:c.2361_2373dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406818.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406819.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406820.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406821.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406822.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406823.1:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406824.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406825.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406826.1:c.3759_3771dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406827.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406828.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406829.1:c.3021_3033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406830.1:c.3630_3642dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406831.1:c.708_720dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406832.1:c.774_786dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407362.1:c.1872_1884dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Lynch syndrome 5 (LYNCH5)
Synonyms:: Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5
Identifiers:: MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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gi|2314581379|ref|NM_207606.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004187077	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 28, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004187077

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Aug 28, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004187077.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Oct 8, 2024

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