NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) AND not specified

Clinical significance:Likely benign (Last evaluated: Nov 4, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000152890.3

Allele description [Variation Report for NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)]

NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)

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.2600C>T (p.Pro867Leu)
HGVS:
  • NC_000002.12:g.29071662G>A
  • NG_021427.1:g.7600C>T
  • NM_001029883.3:c.2600C>TMANE SELECT
  • NP_001025054.1:p.Pro867Leu
  • NP_001025054.1:p.Pro867Leu
  • A6NGG8:p.Pro867Leu
  • NC_000002.11:g.29294528G>A
  • NM_001029883.2:c.2600C>T
Protein change:
P867L
Links:
UniProtKB: A6NGG8#VAR_063396; dbSNP: rs182248363
NCBI 1000 Genomes Browser:
rs182248363
Molecular consequence:
  • NM_001029883.3:c.2600C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

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
SCV000202314EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Nov 4, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000202314.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: Oct 16, 2021

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