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NM_001384732.1(CPLANE1):c.1438G>C (p.Gly480Arg) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 16, 2021
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:
RCV004374452.1

Allele description [Variation Report for NM_001384732.1(CPLANE1):c.1438G>C (p.Gly480Arg)]

NM_001384732.1(CPLANE1):c.1438G>C (p.Gly480Arg)

Gene:
CPLANE1:ciliogenesis and planar polarity effector complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_001384732.1(CPLANE1):c.1438G>C (p.Gly480Arg)
HGVS:
  • NC_000005.10:g.37227326C>G
  • NG_032772.2:g.27103G>C
  • NG_032772.3:g.27050G>C
  • NM_001384732.1:c.1438G>CMANE SELECT
  • NM_023073.4:c.1438G>C
  • NP_001371661.1:p.Gly480Arg
  • NP_075561.3:p.Gly480Arg
  • NC_000005.9:g.37227428C>G
  • NM_023073.3:c.1438G>C
Protein change:
G480R
Molecular consequence:
  • NM_001384732.1:c.1438G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023073.4:c.1438G>C - 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
SCV004850576Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 16, 2021) 		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, SCV004850576.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024