NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001001156.1

Allele description [Variation Report for NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn)]

NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn)

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.1114G>A (p.Asp372Asn)
HGVS:
  • NC_000002.12:g.29073148C>T
  • NG_021427.1:g.6114G>A
  • NM_001029883.3:c.1114G>AMANE SELECT
  • NP_001025054.1:p.Asp372Asn
  • NC_000002.11:g.29296014C>T
  • NM_001029883.2:c.1114G>A
Protein change:
D372N
Links:
dbSNP: rs201284350
NCBI 1000 Genomes Browser:
rs201284350
Molecular consequence:
  • NM_001029883.3:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001158305ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Apr 9, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001158305.1

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

Description

The C2orf71 (PCARE) c.1114G>A; p.Asp372Asn variant (rs201284350) is reported in the literature in an individual affected with retinitis pigmentosa, though it was not demonstrated to be disease-causing (Audo 2011). This variant is found on nine chromosomes (9/280902 alleles) in the Genome Aggregation Database. The aspartate at codon 372 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Asp372Asn variant is uncertain at this time. References: Audo I et al. Novel C2orf71 mutations account for 1% of cases in a large French arRP cohort. Hum Mutat. 2011 Apr;32(4):E2091-103

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

Last Updated: Jan 16, 2021

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