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NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) AND Lynch syndrome 5

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 24, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002288563.3

Allele description [Variation Report for NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)]

NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
HGVS:
  • NC_000002.11:g.48032122_48032123del
  • NC_000002.12:g.47804984_47804985del
  • NG_007111.1:g.26838_26839del
  • NG_008397.1:g.105692_105693del
  • NM_000179.3:c.3513_3514delMANE SELECT
  • NM_001281492.2:c.3123_3124del
  • NM_001281493.2:c.2607_2608del
  • NM_001281494.2:c.2607_2608del
  • NP_000170.1:p.Asp1171fs
  • NP_001268421.1:p.Asp1041fs
  • NP_001268422.1:p.Asp869fs
  • NP_001268423.1:p.Asp869fs
  • LRG_219:g.26838_26839del
  • NC_000002.11:g.48032122_48032123del
  • NC_000002.11:g.48032123_48032124del
  • NC_000002.11:g.48032123_48032124delTA
  • NM_000179.2:c.3513_3514delTA
  • p.Asp1171Glufs*5
  • p.Asp1171GlufsX5
  • p.D1171Efs*5
Protein change:
D1041fs
Links:
dbSNP: rs63750194
NCBI 1000 Genomes Browser:
rs63750194
Molecular consequence:
  • NM_000179.3:c.3513_3514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3123_3124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2607_2608del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2607_2608del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002580256MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Nov 8, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004188206Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))
Pathogenic
(Aug 24, 2023)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From MGZ Medical Genetics Center, SCV002580256.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Myriad Genetics, Inc., SCV004188206.1

#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