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NM_000179.2(MSH6):c.2561_2563delAGA (p.Lys854del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 9, 2017
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:
RCV000132477.6

Allele description

NM_000179.2(MSH6):c.2561_2563delAGA (p.Lys854del)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.2(MSH6):c.2561_2563delAGA (p.Lys854del)
HGVS:
  • NC_000002.12:g.47800544_47800546delAGA
  • NG_007111.1:g.22398_22400delAGA
  • NM_000179.2:c.2561_2563delAGA
  • NP_000170.1:p.Lys854del
  • LRG_219t1:c.2561_2563delAGA
  • LRG_219:g.22398_22400delAGA
  • LRG_219p1:p.Lys854del
  • NC_000002.11:g.48027683_48027685delAGA
  • p.K854del
Protein change:
K854del
Links:
dbSNP: rs587782858
NCBI 1000 Genomes Browser:
rs587782858
Molecular consequence:
  • NM_000179.2:c.2561_2563delAGA - inframe_variant - [Sequence Ontology: SO:0001650]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000187571Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))
Uncertain significance
(May 9, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000685296Color
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 13, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Diversity of the clinical presentation of the MMR gene biallelic mutations.

Bougeard G, Olivier-Faivre L, Baert-Desurmont S, Tinat J, Martin C, Bouvignies E, Vasseur S, Huet F, Couillault G, Vabres P, Le Pessot F, Chapusot C, Malka D, Bressac-de Paillerets B, Tosi M, Frebourg T.

Fam Cancer. 2014 Mar;13(1):131-5. doi: 10.1007/s10689-013-9676-1.

PubMed [citation]
PMID:
24068316

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, et al.

J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. Review.

PubMed [citation]
PMID:
26318770
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000187571.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

Lines of evidence used in support of classification: Insufficient or conflicting evidence

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color, SCV000685296.1

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

Last Updated: Oct 10, 2018