U.S. flag

An official website of the United States government

NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs) AND Lynch syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 16, 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:
RCV003451687.1

Allele description [Variation Report for NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)]

NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)
HGVS:
  • NC_000002.12:g.47799922_47799931del
  • NG_007111.1:g.21776_21785del
  • NM_000179.3:c.1939_1948delMANE SELECT
  • NM_001281492.2:c.1549_1558del
  • NM_001281493.2:c.1033_1042del
  • NM_001281494.2:c.1033_1042del
  • NP_000170.1:p.Leu647fs
  • NP_001268421.1:p.Leu517fs
  • NP_001268422.1:p.Leu345fs
  • NP_001268423.1:p.Leu345fs
  • LRG_219t1:c.1939_1948del10
  • LRG_219:g.21776_21785del
  • NC_000002.11:g.48027060_48027069del
  • NC_000002.11:g.48027061_48027070del
  • NM_000179.2:c.1939_1948del10
Protein change:
L345fs
Links:
dbSNP: rs2104377567
NCBI 1000 Genomes Browser:
rs2104377567
Molecular consequence:
  • NM_000179.3:c.1939_1948del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.1549_1558del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.1033_1042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.1033_1042del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004188333Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 16, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004188333.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024