NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) AND Familial aplasia of the vermis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 24, 2020
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:: RCV001280355.1

Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)]

NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)

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.999T>G (p.Ser333=)

HGVS:

NC_000016.10:g.53672900A>C
NG_008991.2:g.35960T>G
NM_001127897.4:c.999T>G
NM_001308334.3:c.999T>G
NM_001330538.2:c.999T>G
NM_015272.5:c.999T>GMANE SELECT
NP_001121369.1:p.Ser333=
NP_001295263.1:p.Ser333=
NP_001317467.1:p.Ser333=
NP_056087.2:p.Ser333=
LRG_696t1:c.999T>G
LRG_696t2:c.999T>G
LRG_696:g.35960T>G
LRG_696p1:p.Ser333=
LRG_696p2:p.Ser333=
NC_000016.9:g.53706812A>C
NM_015272.4:c.999T>G

Links:

dbSNP: rs1022259426

NCBI 1000 Genomes Browser:

rs1022259426

Molecular consequence:

NM_001127897.4:c.999T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001308334.3:c.999T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001330538.2:c.999T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_015272.5:c.999T>G - synonymous variant - [Sequence Ontology: SO:0001819]

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001467531	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 24, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001467531

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 24, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001467531.1

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine