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NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 12, 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:
RCV003483471.1

Allele description [Variation Report for NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)]

NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)

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.1001A>G (p.Tyr334Cys)
Other names:
p.Y334C:TAC>TGC
HGVS:
  • NC_000016.10:g.23635545T>C
  • NG_007406.1:g.10813A>G
  • NM_024675.4:c.1001A>GMANE SELECT
  • NP_078951.2:p.Tyr334Cys
  • NP_078951.2:p.Tyr334Cys
  • LRG_308t1:c.1001A>G
  • LRG_308:g.10813A>G
  • LRG_308p1:p.Tyr334Cys
  • NC_000016.9:g.23646866T>C
  • NM_024675.3:c.1001A>G
  • Q86YC2:p.Tyr334Cys
  • p.Y334C
Protein change:
Y334C
Links:
UniProtKB: Q86YC2#VAR_066363; dbSNP: rs200620434
NCBI 1000 Genomes Browser:
rs200620434
Molecular consequence:
  • NM_024675.4:c.1001A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004228248German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Oct 12, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedcuration

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 German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV004228248.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

BP1, BP4, BS1?. According to the ACMG standard criteria we chose these criteria: BP1 (supporting benign): Coldspot region outside of functional important regions, BP4 (supporting benign): Aggregated score predicts a benign effect, BS1 (supporting benign): gnomAD nonCancer NFE AF: 0.0001080

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

Last Updated: Oct 26, 2024