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NM_201384.3(PLEC):c.13471A>T (p.Thr4491Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 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:
RCV003276216.2

Allele description [Variation Report for NM_201384.3(PLEC):c.13471A>T (p.Thr4491Ser)]

NM_201384.3(PLEC):c.13471A>T (p.Thr4491Ser)

Gene:
PLEC:plectin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_201384.3(PLEC):c.13471A>T (p.Thr4491Ser)
HGVS:
  • NC_000008.11:g.143916350T>A
  • NG_012492.1:g.65396A>T
  • NG_159428.1:g.339T>A
  • NM_000445.5:c.13552A>T
  • NM_001410941.1:c.10171A>T
  • NM_201378.4:c.13429A>T
  • NM_201379.3:c.13405A>T
  • NM_201380.4:c.13882A>T
  • NM_201381.3:c.13375A>T
  • NM_201382.4:c.13471A>T
  • NM_201383.3:c.13483A>T
  • NM_201384.3:c.13471A>TMANE SELECT
  • NP_000436.2:p.Thr4518Ser
  • NP_001397870.1:p.Thr3391Ser
  • NP_958780.1:p.Thr4477Ser
  • NP_958781.1:p.Thr4469Ser
  • NP_958782.1:p.Thr4628Ser
  • NP_958783.1:p.Thr4459Ser
  • NP_958784.1:p.Thr4491Ser
  • NP_958785.1:p.Thr4495Ser
  • NP_958786.1:p.Thr4491Ser
  • NC_000008.10:g.144990518T>A
  • NM_000445.3:c.13552A>T
Protein change:
T3391S
Molecular consequence:
  • NM_000445.5:c.13552A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410941.1:c.10171A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201378.4:c.13429A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201379.3:c.13405A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201380.4:c.13882A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201381.3:c.13375A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201382.4:c.13471A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201383.3:c.13483A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201384.3:c.13471A>T - 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
SCV003968845Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 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, SCV003968845.2

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

Description

The c.13552A>T (p.T4518S) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a A to T substitution at nucleotide position 13552, causing the threonine (T) at amino acid position 4518 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: May 1, 2024