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NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 2024
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:
RCV004021126.1

Allele description [Variation Report for NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)]

NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)

Gene:
PLEC:plectin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)
HGVS:
  • NC_000008.11:g.143916371C>T
  • NG_012492.1:g.65375G>A
  • NM_000445.5:c.13531G>A
  • NM_201378.4:c.13408G>A
  • NM_201379.3:c.13384G>A
  • NM_201380.4:c.13861G>A
  • NM_201381.3:c.13354G>A
  • NM_201382.4:c.13450G>A
  • NM_201383.3:c.13462G>A
  • NM_201384.3:c.13450G>AMANE SELECT
  • NP_000436.2:p.Gly4511Ser
  • NP_958780.1:p.Gly4470Ser
  • NP_958781.1:p.Gly4462Ser
  • NP_958782.1:p.Gly4621Ser
  • NP_958783.1:p.Gly4452Ser
  • NP_958784.1:p.Gly4484Ser
  • NP_958785.1:p.Gly4488Ser
  • NP_958786.1:p.Gly4484Ser
  • NC_000008.10:g.144990539C>T
  • NM_000445.3:c.13531G>A
  • NM_000445.4:c.13531G>A
Protein change:
G4452S
Links:
dbSNP: rs782650176
NCBI 1000 Genomes Browser:
rs782650176
Molecular consequence:
  • NM_000445.5:c.13531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201378.4:c.13408G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201379.3:c.13384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201380.4:c.13861G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201381.3:c.13354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201382.4:c.13450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201383.3:c.13462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201384.3:c.13450G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005006541Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 11, 2024) 		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, SCV005006541.1

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

Description

The c.13531G>A (p.G4511S) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 13531, causing the glycine (G) at amino acid position 4511 to be replaced by a serine (S). 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: Sep 29, 2024