NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) AND not specified

Clinical significance:Likely benign (Last evaluated: Jun 5, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000489456.4

Allele description [Variation Report for NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)]

NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
HGVS:
  • NC_000002.12:g.29072965G>A
  • NG_021427.1:g.6297C>T
  • NM_001029883.3:c.1297C>TMANE SELECT
  • NP_001025054.1:p.Pro433Ser
  • NC_000002.11:g.29295831G>A
  • NM_001029883.2:c.1297C>T
Protein change:
P433S
Links:
dbSNP: rs200696965
NCBI 1000 Genomes Browser:
rs200696965
Molecular consequence:
  • NM_001029883.3:c.1297C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000860238EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Mar 27, 2018)
germlineclinical testing

Citation Link,

SCV001160584ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Jun 5, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000860238.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160584.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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