NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 17, 2013
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000079372.16

Allele description [Variation Report for NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del)]

NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del)

Gene:

PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p23.2

Genomic location:

Preferred name:

NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del)

HGVS:

NC_000002.11:g.29293862_29293864del
NC_000002.12:g.29070997_29070999del
NG_021427.1:g.8264_8266del
NM_001029883.3:c.3264_3266delMANE SELECT
NP_001025054.1:p.Pro1089del
NC_000002.11:g.29293862_29293864del
NC_000002.11:g.29293863_29293865del
NC_000002.11:g.29293863_29293865del
NC_000002.11:g.29293863_29293865delGGG
NM_001029883.2:c.3264_3266del
NM_001029883.2:c.3264_3266delCCC

Protein change:

P1089del

Links:

dbSNP: rs138020654

NCBI 1000 Genomes Browser:

rs138020654

Molecular consequence:

NM_001029883.3:c.3264_3266del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Phytophthora internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA...
Phytophthora internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence.
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000111242	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Sep 17, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000111242

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Sep 17, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	4	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111242.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		4	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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