U.S. flag

An official website of the United States government

NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) AND Breast-ovarian cancer, familial, susceptibility to, 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 7, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003315410.2

Allele description [Variation Report for NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)]

NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
HGVS:
  • NC_000016.10:g.23629986_23629987del
  • NG_007406.1:g.16371_16372del
  • NM_024675.4:c.2167_2168delMANE SELECT
  • NP_078951.2:p.Met723fs
  • LRG_308:g.16371_16372del
  • NC_000016.10:g.23629986_23629987delAT
  • NC_000016.9:g.23641307_23641308del
  • NC_000016.9:g.23641307_23641308delAT
  • NM_024675.3:c.2167_2168delAT
  • NM_024675.4:c.2167_2168del
  • p.M723VFS*21
  • p.Met723Valfs*21
  • p.Met723ValfsX21
Links:
dbSNP: rs587776416
NCBI 1000 Genomes Browser:
rs587776416
Molecular consequence:
  • NM_024675.4:c.2167_2168del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 5 (BROVCA5)
Identifiers:
MONDO: MONDO:0957530; MedGen: C5830615; OMIM: 620442

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004015169KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 7, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004015169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal (p.Met723Valfs*21) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). This variant is present in population databases (rs587776416, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 24448499, 24556926, 25099575). ClinVar has an entry for this variant (Variation ID: 136132) with 18 submissions. Therefore, this variant has been classified as Pathogenic.

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

Last Updated: May 19, 2024