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NM_024675.4(PALB2):c.3437A>G (p.Gln1146Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 24, 2013
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:
RCV000116105.2

Allele description [Variation Report for NM_024675.4(PALB2):c.3437A>G (p.Gln1146Arg)]

NM_024675.4(PALB2):c.3437A>G (p.Gln1146Arg)

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.3437A>G (p.Gln1146Arg)
Other names:
p.Q1146R:CAG>CGG
HGVS:
  • NC_000016.10:g.23603583T>C
  • NG_007406.1:g.42775A>G
  • NM_024675.4:c.3437A>GMANE SELECT
  • NP_078951.2:p.Gln1146Arg
  • NP_078951.2:p.Gln1146Arg
  • LRG_308t1:c.3437A>G
  • LRG_308:g.42775A>G
  • LRG_308p1:p.Gln1146Arg
  • NC_000016.9:g.23614904T>C
  • NM_024675.3:c.3437A>G
Protein change:
Q1146R
Links:
dbSNP: rs587780219
NCBI 1000 Genomes Browser:
rs587780219
Molecular consequence:
  • NM_024675.4:c.3437A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000150014GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 24, 2013) 		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, SCV000150014.12

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

Description

This variant is denoted PALB2 c.3437A>G at the cDNA level, p.Gln1146Arg (Q1146R) at the protein level, and results in the change of a Glutamine to an Arginine (CAG>CGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PALB2 Gln1146Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a semi-conservative substitution in which a neutral polar amino acid is replaced with a positive polar one, altering a position that is highly variable throughout evolution and is located in the protein region that interacts with RAD51 and BRCA2. In silico analyses predict this variant to have a benign effect on protein structure and function. Based on currently available information, it is unclear whether PALB2 Gln1146Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Nov 5, 2022