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NM_152643.8(KNDC1):c.2914G>T (p.Glu972Ter) AND Breast ductal adenocarcinoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 2015
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:
RCV000207156.1

Allele description [Variation Report for NM_152643.8(KNDC1):c.2914G>T (p.Glu972Ter)]

NM_152643.8(KNDC1):c.2914G>T (p.Glu972Ter)

Gene:
KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.3
Genomic location:
Preferred name:
NM_152643.8(KNDC1):c.2914G>T (p.Glu972Ter)
HGVS:
  • NC_000010.11:g.133200385G>T
  • NG_053178.1:g.45290G>T
  • NM_152643.8:c.2914G>TMANE SELECT
  • NP_689856.6:p.Glu972Ter
  • NC_000010.10:g.135013889G>T
Protein change:
E972*
Links:
dbSNP: rs869025238
NCBI 1000 Genomes Browser:
rs869025238
Molecular consequence:
  • NM_152643.8:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Breast ductal adenocarcinoma
Synonyms:
Ductal breast carcinoma; Breast cancer, invasive ductal
Identifiers:
MONDO: MONDO:0005590; MedGen: C1527349

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258665Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.
no assertion criteria provided
Uncertain significance
(Jul 20, 2015) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednoresearch

Details of each submission

From Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc., SCV000258665.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednoresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providedleft axillary nodenot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024