NM_003098.3(SNTA1):c.346A>G (p.Lys116Glu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 14, 2024
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:: RCV002457275.3

Allele description [Variation Report for NM_003098.3(SNTA1):c.346A>G (p.Lys116Glu)]

NM_003098.3(SNTA1):c.346A>G (p.Lys116Glu)

Gene:

SNTA1:syntrophin alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

Preferred name:

NM_003098.3(SNTA1):c.346A>G (p.Lys116Glu)

HGVS:

NC_000020.11:g.33438991T>C
NG_011622.1:g.9902A>G
NM_003098.3:c.346A>GMANE SELECT
NP_003089.1:p.Lys116Glu
NP_003089.1:p.Lys116Glu
LRG_332t1:c.346A>G
LRG_332:g.9902A>G
LRG_332p1:p.Lys116Glu
NC_000020.10:g.32026797T>C
NM_003098.2:c.346A>G

Protein change:

K116E

Molecular consequence:

NM_003098.3:c.346A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002612985	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 14, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002612985

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 14, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.

Na I, Redmon D, Kopa M, Qin Y, Xue B, Uversky VN.

PLoS One. 2013;8(8):e73476. doi: 10.1371/journal.pone.0073476.

PubMed [citation]

PMID:: 24014171
PMCID:: PMC3754965

Details of each submission

From Ambry Genetics, SCV002612985.3

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

Description

The p.K116E variant (also known as c.346A>G), located in coding exon 2 of the SNTA1 gene, results from an A to G substitution at nucleotide position 346. The lysine at codon 116 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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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