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NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 5, 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:
RCV000416712.2

Allele description [Variation Report for NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)]

NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
HGVS:
  • NC_000016.10:g.23635504G>A
  • NG_007406.1:g.10854C>T
  • NM_024675.4:c.1042C>TMANE SELECT
  • NP_078951.2:p.Gln348Ter
  • NP_078951.2:p.Gln348Ter
  • LRG_308t1:c.1042C>T
  • LRG_308:g.10854C>T
  • LRG_308p1:p.Gln348Ter
  • NC_000016.9:g.23646825G>A
  • NM_024675.3:c.1042C>T
Protein change:
Q348*
Links:
dbSNP: rs375699023
NCBI 1000 Genomes Browser:
rs375699023
Molecular consequence:
  • NM_024675.4:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000262688Dr. Peter K. Rogan Lab, Western University - Mucaki_2016
no assertion criteria provided
Likely pathogenic
(Feb 5, 2015) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Citations

PubMed

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Mucaki EJ, Caminsky NG, Perri AM, Lu R, Laederach A, Halvorsen M, Knoll JH, Rogan PK.

BMC Med Genomics. 2016 Apr 11;9:19. doi: 10.1186/s12920-016-0178-5.

PubMed [citation]
PMID:
27067391
PMCID:
PMC4828881

Details of each submission

From Dr. Peter K. Rogan Lab, Western University - Mucaki_2016, SCV000262688.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

Sequenced patient with familial breast cancer

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

Last Updated: Sep 29, 2024