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NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 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:
RCV004049043.1

Allele description [Variation Report for NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His)]

NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His)

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.3283G>C (p.Asp1095His)
HGVS:
  • NC_000004.12:g.168925003G>C
  • NG_013376.1:g.432938G>C
  • NM_001166108.2:c.3283G>CMANE SELECT
  • NM_001166109.2:c.2086G>C
  • NM_001166110.2:c.1771G>C
  • NM_001367567.1:c.1111G>C
  • NM_001367568.1:c.1162G>C
  • NM_001367569.1:c.1111G>C
  • NM_001367570.1:c.1162G>C
  • NM_016081.4:c.3232G>C
  • NP_001159580.1:p.Asp1095His
  • NP_001159581.1:p.Asp696His
  • NP_001159582.1:p.Asp591His
  • NP_001354496.1:p.Asp371His
  • NP_001354497.1:p.Asp388His
  • NP_001354498.1:p.Asp371His
  • NP_001354499.1:p.Asp388His
  • NP_057165.3:p.Asp1078His
  • NC_000004.11:g.169846154G>C
  • NM_016081.3:c.3232G>C
Protein change:
D1078H
Molecular consequence:
  • NM_001166108.2:c.3283G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166109.2:c.2086G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166110.2:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367567.1:c.1111G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367568.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367569.1:c.1111G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367570.1:c.1162G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016081.4:c.3232G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002611733Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 28, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002611733.2

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

Description

The p.D1078H variant (also known as c.3232G>C), located in coding exon 18 of the PALLD gene, results from a G to C substitution at nucleotide position 3232. The aspartic acid at codon 1078 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: Feb 16, 2025