U.S. flag

An official website of the United States government

NM_022369.4(STRA6):c.1167-2_1167-1del AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 30, 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:
RCV001797203.2

Allele description [Variation Report for NM_022369.4(STRA6):c.1167-2_1167-1del]

NM_022369.4(STRA6):c.1167-2_1167-1del

Gene:
STRA6:signaling receptor and transporter of retinol STRA6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_022369.4(STRA6):c.1167-2_1167-1del
HGVS:
  • NC_000015.10:g.74183990_74183991del
  • NG_009207.1:g.30040_30041del
  • NM_001142617.2:c.1167-2_1167-1del
  • NM_001142618.2:c.1167-2_1167-1del
  • NM_001142619.2:c.1140-2_1140-1del
  • NM_001199040.2:c.1278-2_1278-1del
  • NM_001199041.2:c.1212-2_1212-1del
  • NM_001199042.2:c.1284-2_1284-1del
  • NM_022369.4:c.1167-2_1167-1delMANE SELECT
  • NC_000015.9:g.74476331_74476332del
Links:
dbSNP: rs770136705
NCBI 1000 Genomes Browser:
rs770136705
Molecular consequence:
  • NM_001142617.2:c.1167-2_1167-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001142618.2:c.1167-2_1167-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001142619.2:c.1140-2_1140-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001199040.2:c.1278-2_1278-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001199041.2:c.1212-2_1212-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001199042.2:c.1284-2_1284-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_022369.4:c.1167-2_1167-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002038602GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(May 30, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002038602.2

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

Description

Deletion of the canonical splice acceptor site in intron 13 in STRA6 predicted to alter gene splicing; loss-of-function is a known mechanism of disease for STRA6; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023