NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp) AND Malignant tumor of breast

Clinical significance:Benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001269484.1

Allele description [Variation Report for NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)]

NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)

Gene:
PRKDC:protein kinase, DNA-activated, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q11.21
Genomic location:
Preferred name:
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)
HGVS:
  • NC_000008.11:g.47817561C>T
  • NG_023435.1:g.147623G>A
  • NM_001081640.2:c.9446G>A
  • NM_006904.7:c.9446G>AMANE SELECT
  • NP_001075109.1:p.Gly3149Asp
  • NP_008835.5:p.Gly3149Asp
  • NP_008835.5:p.Gly3149Asp
  • LRG_162t1:c.9446G>A
  • LRG_162:g.147623G>A
  • LRG_162p1:p.Gly3149Asp
  • NC_000008.10:g.48730122C>T
  • NM_006904.6:c.9446G>A
Protein change:
G3149D
Links:
dbSNP: rs8178208
NCBI 1000 Genomes Browser:
rs8178208
Molecular consequence:
  • NM_001081640.2:c.9446G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006904.7:c.9446G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Breast cancer; Malignant breast neoplasm
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001449052Center of Medical Genetics and Primary Health Careno assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center of Medical Genetics and Primary Health Care, SCV001449052.1

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

Last Updated: Dec 4, 2021

Support Center