NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs) AND Lynch syndrome 5

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 3, 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:: RCV000576639.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)]

NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)

HGVS:

NC_000002.12:g.47806314_47806324del
NG_007111.1:g.28168_28178del
NG_008397.1:g.104356_104366del
NM_000179.3:c.3757_3767delMANE SELECT
NM_001281492.2:c.3367_3377del
NM_001281493.2:c.2851_2861del
NM_001281494.2:c.2851_2861del
NP_000170.1:p.Val1253fs
NP_001268421.1:p.Val1123fs
NP_001268422.1:p.Val951fs
NP_001268423.1:p.Val951fs
LRG_219:g.28168_28178del
NC_000002.11:g.48033453_48033463del
NM_000179.2:c.3757_3767del11

Protein change:

V1123fs

Links:

dbSNP: rs1553333093

NCBI 1000 Genomes Browser:

rs1553333093

Molecular consequence:

NM_000179.3:c.3757_3767del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281492.2:c.3367_3377del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281493.2:c.2851_2861del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281494.2:c.2851_2861del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000677866	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Jan 3, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000677866

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely pathogenic
(Jan 3, 2017)

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 Counsyl, SCV000677866.2

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

#	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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