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NM_006457.5(PDLIM5):c.815G>A (p.Arg272His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 18, 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:
RCV004309207.1

Allele description [Variation Report for NM_006457.5(PDLIM5):c.815G>A (p.Arg272His)]

NM_006457.5(PDLIM5):c.815G>A (p.Arg272His)

Gene:
PDLIM5:PDZ and LIM domain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.3
Genomic location:
Preferred name:
NM_006457.5(PDLIM5):c.815G>A (p.Arg272His)
HGVS:
  • NC_000004.12:g.94585669G>A
  • NM_001011513.4:c.488G>A
  • NM_001011514.1:c.*42G>A
  • NM_001011515.3:c.506G>A
  • NM_001011516.3:c.446G>A
  • NM_001256425.2:c.-161G>A
  • NM_001256426.2:c.506G>A
  • NM_001256427.2:c.506G>A
  • NM_001256428.2:c.449G>A
  • NM_006457.5:c.815G>AMANE SELECT
  • NP_001011513.4:p.Arg163His
  • NP_001011515.1:p.Arg169His
  • NP_001011516.1:p.Arg149His
  • NP_001243355.2:p.Arg169His
  • NP_001243356.2:p.Arg169His
  • NP_001243357.2:p.Arg150His
  • NP_006448.5:p.Arg272His
  • NC_000004.11:g.95506820G>A
  • NM_006457.3:c.815G>A
  • NR_003257.1:n.547G>A
  • NR_024179.1:n.547G>A
Protein change:
R149H
Molecular consequence:
  • NM_001256425.2:c.-161G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001011513.4:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001011515.3:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001011516.3:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256426.2:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256427.2:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256428.2:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006457.5:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003973865Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 18, 2023) 		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, SCV003973865.2

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

Description

The c.815G>A (p.R272H) alteration is located in exon 6 (coding exon 5) of the PDLIM5 gene. This alteration results from a G to A substitution at nucleotide position 815, causing the arginine (R) at amino acid position 272 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 24, 2024