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NM_003978.5(PSTPIP1):c.355-16C>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 2016
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:
RCV000236191.1

Allele description [Variation Report for NM_003978.5(PSTPIP1):c.355-16C>G]

NM_003978.5(PSTPIP1):c.355-16C>G

Gene:
PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.3
Genomic location:
Preferred name:
NM_003978.5(PSTPIP1):c.355-16C>G
HGVS:
  • NC_000015.10:g.77027836C>G
  • NG_007526.1:g.37713C>G
  • NM_001321135.2:c.355-16C>G
  • NM_001321136.2:c.328-16C>G
  • NM_001321137.1:c.550-16C>G
  • NM_003978.5:c.355-16C>GMANE SELECT
  • LRG_172t1:c.355-16C>G
  • LRG_172:g.37713C>G
  • NC_000015.9:g.77320177C>G
  • NM_003978.3:c.355-16C>G
  • NM_003978.4:c.355-16C>G
Links:
dbSNP: rs767272289
NCBI 1000 Genomes Browser:
rs767272289
Molecular consequence:
  • NM_001321135.2:c.355-16C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321136.2:c.328-16C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321137.1:c.550-16C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003978.5:c.355-16C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293838GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 11, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293838.10

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

Description

The c.355-16 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.355-16 C>G damages the natural splice acceptor site in intron 5 and leads to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Mar 10, 2024