NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 24, 2023
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:: RCV003308262.2

Allele description [Variation Report for NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)]

NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)

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.28A>G (p.Asn10Asp)

HGVS:

NC_000015.10:g.38253213A>G
NG_008980.1:g.5363A>G
NM_152594.2:c.28A>G
NM_152594.3:c.28A>GMANE SELECT
NP_689807.1:p.Asn10Asp
NC_000015.9:g.38545414A>G

Protein change:

N10D

Molecular consequence:

NM_152594.3:c.28A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Trichoderma gamsii strain QTYC7 internal transcribed spacer 1, partial sequence;...
Trichoderma gamsii strain QTYC7 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|696739237|gb|KM103339.1|

Nucleotide
Trichoderma harzianum strain QTYC64 internal transcribed spacer 1, partial seque...
Trichoderma harzianum strain QTYC64 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|696739234|gb|KM103336.1|

Nucleotide
Homo sapiens beclin 1 (BECN1), transcript variant 3, mRNA
Homo sapiens beclin 1 (BECN1), transcript variant 3, mRNA
gi|929524268|ref|NM_001313999.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004000274	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004000274

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 24, 2023)

germline

clinical testing

Citation Link

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 Ambry Genetics, SCV004000274.2

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

Description

The p.N10D variant (also known as c.28A>G), located in coding exon 1 of the SPRED1 gene, results from an A to G substitution at nucleotide position 28. The asparagine at codon 10 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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