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NM_178429.5(LCE2C):c.128C>A (p.Ala43Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 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:
RCV004412434.1

Allele description [Variation Report for NM_178429.5(LCE2C):c.128C>A (p.Ala43Glu)]

NM_178429.5(LCE2C):c.128C>A (p.Ala43Glu)

Gene:
LCE2C:late cornified envelope 2C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_178429.5(LCE2C):c.128C>A (p.Ala43Glu)
HGVS:
  • NC_000001.11:g.152676143C>A
  • NM_178429.5:c.128C>AMANE SELECT
  • NP_848516.1:p.Ala43Glu
  • NC_000001.10:g.152648619C>A
  • NM_178429.2:c.128C>A
Protein change:
A43E
Molecular consequence:
  • NM_178429.5:c.128C>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
SCV004895774Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 16, 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, SCV004895774.1

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

Description

The c.128C>A (p.A43E) alteration is located in exon 2 (coding exon 1) of the LCE2C gene. This alteration results from a C to A substitution at nucleotide position 128, causing the alanine (A) at amino acid position 43 to be replaced by a glutamic acid (E). 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 7, 2024