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NM_015272.5(RPGRIP1L):c.776+1G>A AND Familial aplasia of the vermis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 3, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001828525.1

Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.776+1G>A]

NM_015272.5(RPGRIP1L):c.776+1G>A

Gene:
RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.2
Genomic location:
Preferred name:
NM_015272.5(RPGRIP1L):c.776+1G>A
HGVS:
  • NC_000016.10:g.53686432C>T
  • NG_008991.2:g.22428G>A
  • NM_001127897.4:c.776+1G>A
  • NM_001308334.3:c.776+1G>A
  • NM_001330538.2:c.776+1G>A
  • NM_015272.5:c.776+1G>AMANE SELECT
  • LRG_696t1:c.776+1G>A
  • LRG_696t2:c.776+1G>A
  • LRG_696:g.22428G>A
  • NC_000016.9:g.53720344C>T
  • NM_015272.2:c.776+1G>A
Links:
dbSNP: rs771226563
NCBI 1000 Genomes Browser:
rs771226563
Molecular consequence:
  • NM_001127897.4:c.776+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001308334.3:c.776+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330538.2:c.776+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015272.5:c.776+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial aplasia of the vermis
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

Recent activity

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  • Xenopus laevis nuclear receptor coactivator 2 S homeolog (ncoa2.S), mRNA
    Xenopus laevis nuclear receptor coactivator 2 S homeolog (ncoa2.S), mRNA
    gi|148230518|ref|NM_001087670.1|
    Nucleotide
  • Head Protective Devices
    Head Protective Devices
    Personal devices for protection of heads from impact, penetration from falling and flying objects, and from limited electric shock and burn.<br/>Year introduced: 1991(1975)
    MeSH
  • Space Suits
    Space Suits
    Pressure suits for wear in space or at very low ambient pressures within the atmosphere, designed to permit the wearer to leave the protection of a pressurized cabin. (NASA Th...<br/>Year introduced: 1997
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002085752Natera, Inc.
no assertion criteria provided
Likely pathogenic
(May 3, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002085752.1

#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: Sep 29, 2024