NM_152594.3(SPRED1):c.424-4A>G AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412862.1

Allele description [Variation Report for NM_152594.3(SPRED1):c.424-4A>G]

NM_152594.3(SPRED1):c.424-4A>G

Gene:
SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_152594.3(SPRED1):c.424-4A>G
HGVS:
  • NC_000015.10:g.38339733A>G
  • NG_008980.1:g.91883A>G
  • NM_152594.3:c.424-4A>GMANE SELECT
  • NC_000015.9:g.38631934A>G
  • NM_152594.2:c.424-4A>G
Links:
dbSNP: rs1057518328
NCBI 1000 Genomes Browser:
rs1057518328
Molecular consequence:
  • NM_152594.3:c.424-4A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000491872GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 14, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491872.1

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

Description

The c.424-4 A>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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In-silico splice prediction models are uninformative for the variant's effect on the natural splice acceptor site of intron 4. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual 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: Feb 27, 2021

Support Center