U.S. flag

An official website of the United States government

NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs) AND Familial cancer of breast

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Aug 20, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003140327.2

Allele description [Variation Report for NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)]

NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)

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.3004_3008del (p.Glu1002fs)
HGVS:
  • NC_000016.10:g.23621470_23621474del
  • NG_007406.1:g.24887_24891del
  • NM_001407296.1:c.2941_2945delAAAGA
  • NM_001407297.1:c.2929_2933delAAAGA
  • NM_001407298.1:c.2839_2843delAAAGA
  • NM_001407299.1:c.3001_3005delAAAGA
  • NM_001407301.1:c.3001_3005delAAAGA
  • NM_001407302.1:c.2839_2843delAAAGA
  • NM_001407304.1:c.2116_2120delAAAGA
  • NM_001407305.1:c.2116_2120delAAAGA
  • NM_001407306.1:c.2116_2120delAAAGA
  • NM_001407307.1:c.1954_1958delAAAGA
  • NM_001407308.1:c.2116_2120delAAAGA
  • NM_001407309.1:c.2116_2120delAAAGA
  • NM_001407310.1:c.2116_2120delAAAGA
  • NM_001407311.1:c.2116_2120delAAAGA
  • NM_001407312.1:c.1213_1217delAAAGA
  • NM_001407313.1:c.1213_1217delAAAGA
  • NM_001407314.1:c.535_539delAAAGA
  • NM_024675.4:c.3004_3008delMANE SELECT
  • NP_001394225.1:p.Glu982Profs
  • NP_001394226.1:p.Glu978Profs
  • NP_001394227.1:p.Glu948Profs
  • NP_001394228.1:p.Glu1002Profs
  • NP_001394230.1:p.Glu1002Profs
  • NP_001394231.1:p.Glu948Profs
  • NP_001394233.1:p.Glu707Profs
  • NP_001394234.1:p.Glu707Profs
  • NP_001394235.1:p.Glu707Profs
  • NP_001394236.1:p.Glu653Profs
  • NP_001394237.1:p.Glu707Profs
  • NP_001394238.1:p.Glu707Profs
  • NP_001394239.1:p.Glu707Profs
  • NP_001394240.1:p.Glu707Profs
  • NP_001394241.1:p.Glu406Profs
  • NP_001394242.1:p.Glu406Profs
  • NP_001394243.1:p.Glu180Profs
  • NP_078951.2:p.Glu1002Profs
  • NP_078951.2:p.Glu1002fs
  • LRG_308t1:c.3001_3005del
  • LRG_308:g.24887_24891del
  • LRG_308p1:p.Glu1002Profs
  • NC_000016.9:g.23632791_23632795del
  • NM_024675.3:c.3001_3005delAAAGA
Protein change:
E1002fs
Molecular consequence:
  • NM_001407296.1:c.2941_2945delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407297.1:c.2929_2933delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407298.1:c.2839_2843delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407299.1:c.3001_3005delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407301.1:c.3001_3005delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407302.1:c.2839_2843delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407304.1:c.2116_2120delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407305.1:c.2116_2120delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407306.1:c.2116_2120delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407307.1:c.1954_1958delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407308.1:c.2116_2120delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407309.1:c.2116_2120delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407310.1:c.2116_2120delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407311.1:c.2116_2120delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407312.1:c.1213_1217delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407313.1:c.1213_1217delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407314.1:c.535_539delAAAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024675.4:c.3004_3008del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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
SCV003806537Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jan 12, 2023) 		unknownclinical testing

Citation Link,

SCV004202122Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 20, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Myriad Genetics, Inc., SCV003806537.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

From Baylor Genetics, SCV004202122.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024