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NM_006017.3(PROM1):c.784+1G>A AND Retinitis pigmentosa 41

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000987424.1

Allele description [Variation Report for NM_006017.3(PROM1):c.784+1G>A]

NM_006017.3(PROM1):c.784+1G>A

Gene:
PROM1:prominin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p15.32
Genomic location:
Preferred name:
NM_006017.3(PROM1):c.784+1G>A
Other names:
NP_006008.1:p.?
HGVS:
  • NC_000004.12:g.16023325C>T
  • NG_011696.2:g.65735G>A
  • NM_001145847.2:c.757+1G>A
  • NM_001145848.2:c.757+1G>A
  • NM_001145849.2:c.784+1G>A
  • NM_001145850.2:c.784+1G>A
  • NM_001145851.2:c.757+1G>A
  • NM_001145852.2:c.757+1G>A
  • NM_001371406.1:c.757+1G>A
  • NM_001371407.1:c.757+1G>A
  • NM_001371408.1:c.757+1G>A
  • NM_006017.3:c.784+1G>AMANE SELECT
  • NC_000004.11:g.16024948C>T
  • NM_006017.2:c.784+1G>A
Links:
dbSNP: rs745704627
NCBI 1000 Genomes Browser:
rs745704627
Molecular consequence:
  • NM_001145847.2:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001145848.2:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001145849.2:c.784+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001145850.2:c.784+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001145851.2:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001145852.2:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371406.1:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371407.1:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371408.1:c.757+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_006017.3:c.784+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Retinitis pigmentosa 41 (RP41)
Synonyms:
RP 41; Retinal degeneration, autosomal recessive, prominin-related
Identifiers:
MONDO: MONDO:0012796; MedGen: C2677516; Orphanet: 791; OMIM: 612095

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001136714Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001136714.1

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

Last Updated: Feb 28, 2024