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NM_007217.4(PDCD10):c.269-1G>C AND Cerebral cavernous malformation 3

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003227843.1

Allele description [Variation Report for NM_007217.4(PDCD10):c.269-1G>C]

NM_007217.4(PDCD10):c.269-1G>C

Gene:
PDCD10:programmed cell death 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.1
Genomic location:
Preferred name:
NM_007217.4(PDCD10):c.269-1G>C
HGVS:
  • NC_000003.12:g.167695723C>G
  • NG_008158.1:g.44141G>C
  • NM_007217.4:c.269-1G>CMANE SELECT
  • NM_145859.2:c.269-1G>C
  • NM_145860.2:c.269-1G>C
  • LRG_651t1:c.269-1G>C
  • LRG_651:g.44141G>C
  • NC_000003.11:g.167413511C>G
  • NM_145859.1:c.269-1G>C
Links:
dbSNP: rs1559952467
NCBI 1000 Genomes Browser:
rs1559952467
Molecular consequence:
  • NM_007217.4:c.269-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_145859.2:c.269-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_145860.2:c.269-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Cerebral cavernous malformation 3
Synonyms:
Cerebral cavernous malformations 3
Identifiers:
MONDO: MONDO:0011305; MedGen: C1864040; Orphanet: 221061; OMIM: 603285

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925461GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV003925461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 12-24-2018 by Lab GeneDx. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 10, 2024