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NM_014208.3(DSPP):c.3102CGATAGCAGTGACAGCAG[2] (p.1032DSS[6]) AND Hepatocellular carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 15, 2021
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:
RCV002300563.2

Allele description

NM_014208.3(DSPP):c.3102CGATAGCAGTGACAGCAG[2] (p.1032DSS[6])

Gene:
DSPP:dentin sialophosphoprotein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_014208.3(DSPP):c.3102CGATAGCAGTGACAGCAG[2] (p.1032DSS[6])
Other names:
NP_055023.2:p.Asp1050_Ser1055del
HGVS:
  • NC_000004.12:g.87615764CGATAGCAGTGACAGCAG[2]
  • NG_011595.1:g.12236CGATAGCAGTGACAGCAG[2]
  • NM_014208.3:c.3102CGATAGCAGTGACAGCAG[2]MANE SELECT
  • NP_055023.2:p.1032DSS[6]
  • LRG_1242t1:c.3102CGATAGCAGTGACAGCAG[2]
  • LRG_1242:g.12236CGATAGCAGTGACAGCAG[2]
  • LRG_1242p1:p.1032DSS[6]
  • NC_000004.11:g.88536916CGATAGCAGTGACAGCAG[2]
  • NC_000004.11:g.88536952_88536969del
  • NM_014208.3:c.3088_3105delMANE SELECT
Molecular consequence:
  • NM_014208.3:c.3102CGATAGCAGTGACAGCAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Hepatocellular carcinoma (HCC)
Synonyms:
Primary carcinoma of liver; Hepatoma; LIVER CELL CARCINOMA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007256; MedGen: C2239176; OMIM: 114550; Human Phenotype Ontology: HP:0001402

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002588615Arun Kumar Laboratory, Indian Institute of Science
no assertion criteria provided
Pathogenic
(Jun 15, 2021) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asiansomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Arun Kumar Laboratory, Indian Institute of Science, SCV002588615.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asiannot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023