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NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 26, 2014
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:
RCV000116053.2

Allele description [Variation Report for NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu)]

NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu)

Genes:
CBR4:carbonyl reductase 4 [Gene - OMIM - HGNC]
PALLD:palladin, cytoskeletal associated protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.3
Genomic location:
Preferred name:
NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu)
Other names:
p.V1084L:GTG>CTG
HGVS:
  • NC_000004.12:g.168925021G>C
  • NG_013376.1:g.432956G>C
  • NM_001166108.2:c.3301G>CMANE SELECT
  • NM_001166109.2:c.2104G>C
  • NM_001166110.2:c.1789G>C
  • NM_001367567.1:c.1129G>C
  • NM_001367568.1:c.1180G>C
  • NM_001367569.1:c.1129G>C
  • NM_001367570.1:c.1180G>C
  • NM_016081.4:c.3250G>C
  • NP_001159580.1:p.Val1101Leu
  • NP_001159581.1:p.Val702Leu
  • NP_001159582.1:p.Val597Leu
  • NP_001354496.1:p.Val377Leu
  • NP_001354497.1:p.Val394Leu
  • NP_001354498.1:p.Val377Leu
  • NP_001354499.1:p.Val394Leu
  • NP_057165.3:p.Val1084Leu
  • NC_000004.11:g.169846172G>C
  • NM_001166110.1:c.1789G>C
  • NM_016081.3:c.3250G>C
Protein change:
V1084L
Links:
dbSNP: rs368806050
NCBI 1000 Genomes Browser:
rs368806050
Molecular consequence:
  • NM_001166108.2:c.3301G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166109.2:c.2104G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166110.2:c.1789G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367567.1:c.1129G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367568.1:c.1180G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367569.1:c.1129G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367570.1:c.1180G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016081.4:c.3250G>C - 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
SCV000149962GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 26, 2014) 		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, SCV000149962.11

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

Description

PALLD has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted PALLD c.3250G>C at the cDNA level, p.Val1084Leu (V1084L) at the protein level, and results in the change of a Valine to a Leucine (GTG>CTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PALLD Val1084Leu was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Valine and Leucine share similar properties, this is considered a conservative amino acid substitution and is unlikely to affect protein integrity. PALLD Val1084Leu occurs at a position that is well conserved across species and is located in the Ig-like C2-type 3 domain (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. On a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and the PALLD gene, remain unclear.

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

Last Updated: Sep 29, 2024