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NM_021630.6(PDLIM2):c.613C>T (p.Leu205Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 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:
RCV004282475.1

Allele description [Variation Report for NM_021630.6(PDLIM2):c.613C>T (p.Leu205Phe)]

NM_021630.6(PDLIM2):c.613C>T (p.Leu205Phe)

Gene:
PDLIM2:PDZ and LIM domain 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_021630.6(PDLIM2):c.613C>T (p.Leu205Phe)
HGVS:
  • NC_000008.11:g.22579392C>T
  • NG_030435.2:g.5652C>T
  • NG_179432.1:g.231C>T
  • NG_179433.1:g.61C>T
  • NM_021630.6:c.613C>T
  • NP_067643.3:p.Leu205Phe
  • NC_000008.10:g.22436905C>T
  • NM_021630.5:c.613C>T
Protein change:
L205F
Molecular consequence:
  • NM_021630.6:c.613C>T - 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
SCV003943283Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 31, 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, SCV003943283.2

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

Description

The c.613C>T (p.L205F) alteration is located in exon 1 (coding exon 1) of the PDLIM2 gene. This alteration results from a C to T substitution at nucleotide position 613, causing the leucine (L) at amino acid position 205 to be replaced by a phenylalanine (F). 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 10, 2024