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NM_000179.3(MSH6):c.334A>G (p.Asn112Asp) AND Hepatoblastoma

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:
RCV001843493.1

Allele description [Variation Report for NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)]

NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
HGVS:
  • NC_000002.12:g.47791000A>G
  • NG_007111.1:g.12854A>G
  • NM_000179.3:c.334A>GMANE SELECT
  • NM_001281492.2:c.237+7530A>G
  • NM_001281493.2:c.-403A>G
  • NM_001281494.2:c.-569A>G
  • NP_000170.1:p.Asn112Asp
  • NP_000170.1:p.Asn112Asp
  • LRG_219t1:c.334A>G
  • LRG_219:g.12854A>G
  • LRG_219p1:p.Asn112Asp
  • NC_000002.11:g.48018139A>G
  • NM_000179.2:c.334A>G
Protein change:
N112D
Links:
dbSNP: rs864622397
NCBI 1000 Genomes Browser:
rs864622397
Molecular consequence:
  • NM_001281493.2:c.-403A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281494.2:c.-569A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281492.2:c.237+7530A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000179.3:c.334A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hepatoblastoma
Identifiers:
MONDO: MONDO:0018666; MedGen: C0206624; Human Phenotype Ontology: HP:0002884

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002103117Molecular Oncology - Human Genetics Lab, University of Sao Paulo
no assertion criteria provided
Uncertain significancegermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Molecular Oncology - Human Genetics Lab, University of Sao Paulo, SCV002103117.1

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

Last Updated: Feb 1, 2025