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NM_024675.4(PALB2):c.364G>T (p.Asp122Tyr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 19, 2022
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:
RCV000160831.5

Allele description [Variation Report for NM_024675.4(PALB2):c.364G>T (p.Asp122Tyr)]

NM_024675.4(PALB2):c.364G>T (p.Asp122Tyr)

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.364G>T (p.Asp122Tyr)
Other names:
p.D122Y:GAT>TAT
HGVS:
  • NC_000016.10:g.23636182C>A
  • NG_007406.1:g.10176G>T
  • NM_024675.4:c.364G>TMANE SELECT
  • NP_078951.2:p.Asp122Tyr
  • NP_078951.2:p.Asp122Tyr
  • LRG_308t1:c.364G>T
  • LRG_308:g.10176G>T
  • LRG_308p1:p.Asp122Tyr
  • NC_000016.9:g.23647503C>A
  • NM_024675.3:c.364G>T
Protein change:
D122Y
Links:
dbSNP: rs730881880
NCBI 1000 Genomes Browser:
rs730881880
Molecular consequence:
  • NM_024675.4:c.364G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211504GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 19, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211504.15

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20871615, 19369211)

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

Last Updated: Sep 29, 2024