NM_003098.3(SNTA1):c.459G>T (p.Gln153His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 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:: RCV003372937.2

Allele description [Variation Report for NM_003098.3(SNTA1):c.459G>T (p.Gln153His)]

NM_003098.3(SNTA1):c.459G>T (p.Gln153His)

Genes:

LOC130065678:ATAC-STARR-seq lymphoblastoid active region 17731 [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.459G>T (p.Gln153His)

HGVS:

NC_000020.11:g.33438878C>A
NG_011622.1:g.10015G>T
NM_003098.3:c.459G>TMANE SELECT
NP_003089.1:p.Gln153His
LRG_332:g.10015G>T
NC_000020.10:g.32026684C>A
NM_003098.2:c.459G>T

Protein change:

Q153H

Links:

dbSNP: rs1471172997

NCBI 1000 Genomes Browser:

rs1471172997

Molecular consequence:

NM_003098.3:c.459G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

GNPDA1 [Vulpes lagopus]
GNPDA1 [Vulpes lagopus]
Gene ID:121496906

Gene
LIPC [Alligator mississippiensis]
LIPC [Alligator mississippiensis]
Gene ID:102563015

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004096779	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004096779

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 11, 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, SCV004096779.2

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

Description

The p.Q153H variant (also known as c.459G>T), located in coding exon 2 of the SNTA1 gene, results from a G to T substitution at nucleotide position 459. The glutamine at codon 153 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is 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: May 1, 2024

ClinVar

Relating variation to medicine