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NM_000179.3(MSH6):c.2561_2563delAGA AND not specified

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000202234.2

Allele description

NM_000179.3(MSH6):c.2561_2563delAGA

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2561_2563delAGA
HGVS:
  • NC_000002.12:g.47800538_47800540AGA[2]
  • NG_007111.1:g.22392_22394AGA[2]
  • NM_000179.3:c.2561_2563delAGAMANE SELECT
  • NM_001281492.1:c.2165_2167AGA[2]
  • NM_001281493.1:c.1649_1651AGA[2]
  • NM_001281494.1:c.1649_1651AGA[2]
  • NP_000170.1:p.Lys854del
  • NP_001268421.1:p.Lys724del
  • NP_001268422.1:p.Lys552del
  • NP_001268423.1:p.Lys552del
  • LRG_219t1:c.2555_2557AGA[2]
  • LRG_219t1:c.2561_2563del
  • LRG_219:g.22392_22394AGA[2]
  • LRG_219p1:p.Lys854del
  • NC_000002.11:g.48027677_48027679AGA[2]
  • NM_000179.2:c.2555_2557AGA[2]
  • NM_000179.2:c.2561_2563delAGA
  • p.K854del
Protein change:
K552del
Links:
dbSNP: rs587782858
NCBI 1000 Genomes Browser:
rs587782858
Molecular consequence:
  • NM_001281492.1:c.2165_2167AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281493.1:c.1649_1651AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281494.1:c.1649_1651AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000257223Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
no assertion criteria provided
Uncertain significanceunknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown3not providednot providednot providednot providedresearch

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000257223.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Sep 27, 2020