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NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 2020
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:
RCV001175516.2

Allele description [Variation Report for NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del)]

NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del)
HGVS:
  • NC_000016.10:g.23641119CTC[1]
  • NG_007406.1:g.5234GAG[1]
  • NM_024675.4:c.34GAG[1]MANE SELECT
  • NP_078951.2:p.Glu13del
  • LRG_308t1:c.37_39del
  • LRG_308:g.5234GAG[1]
  • NC_000016.9:g.23652440CTC[1]
  • NC_000016.9:g.23652440_23652442del
  • NM_024675.3:c.37_39del
  • NM_024675.3:c.37_39delGAG
  • NM_024675.4:c.37_39delMANE SELECT
Protein change:
E13del
Links:
dbSNP: rs745444171
NCBI 1000 Genomes Browser:
rs745444171
Molecular consequence:
  • NM_024675.4:c.34GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001339122Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 20, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001339122.1

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

Description

Variant summary: PALB2 c.37_39delGAG (p.Glu13del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant allele was found at a frequency of 8.1e-06 in 247884 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.37_39delGAG in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. A co-occurrence with a pathogenic variant has been reported (BRCA1 c.4357+1G>A; Internal testing). Four ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 8, 2024