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NM_024675.4(PALB2):c.3062G>A (p.Gly1021Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 2018
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:
RCV001018399.4

Allele description [Variation Report for NM_024675.4(PALB2):c.3062G>A (p.Gly1021Glu)]

NM_024675.4(PALB2):c.3062G>A (p.Gly1021Glu)

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.3062G>A (p.Gly1021Glu)
HGVS:
  • NC_000016.10:g.23621413C>T
  • NG_007406.1:g.24945G>A
  • NM_024675.4:c.3062G>AMANE SELECT
  • NP_078951.2:p.Gly1021Glu
  • LRG_308t1:c.3062G>A
  • LRG_308:g.24945G>A
  • NC_000016.9:g.23632734C>T
  • NM_024675.3:c.3062G>A
Protein change:
G1021E
Links:
dbSNP: rs1597079719
NCBI 1000 Genomes Browser:
rs1597079719
Molecular consequence:
  • NM_024675.4:c.3062G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001179633Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 19, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276

Details of each submission

From Ambry Genetics, SCV001179633.4

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

Description

The p.G1021E variant (also known as c.3062G>A), located in coding exon 10 of the PALB2 gene, results from a G to A substitution at nucleotide position 3062. The glycine at codon 1021 is replaced by glutamic acid, an amino acid with similar properties. This alteration was observed with an allele frequency of 0.001 in 12490 male controls of Japanese ancestry, and was not observed in 53 male breast cancer cases, 7051 unselected female breast cancer patients, or in 11241 female controls (Momozawa Y et al. Nat Commun 2018 Oct;9(1):4083). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024