NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 23, 2019
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:: RCV000618648.11

Allele description [Variation Report for NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)]

NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)

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.440C>A (p.Thr147Asn)

Other names:

p.T147N:ACC>AAC

HGVS:

NC_000020.11:g.33438897G>T
NG_011622.1:g.9996C>A
NM_003098.3:c.440C>AMANE SELECT
NP_003089.1:p.Thr147Asn
NP_003089.1:p.Thr147Asn
LRG_332t1:c.440C>A
LRG_332:g.9996C>A
LRG_332p1:p.Thr147Asn
NC_000020.10:g.32026703G>T
NM_003098.2:c.440C>A

Protein change:

T147N

Links:

dbSNP: rs141724500

NCBI 1000 Genomes Browser:

rs141724500

Molecular consequence:

NM_003098.3:c.440C>A - 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
SCV000736196	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Sep 23, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22584458, 23861362 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000736196

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Sep 23, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.

Ramirez AH, Shaffer CM, Delaney JT, Sexton DP, Levy SE, Rieder MJ, Nickerson DA, George AL Jr, Roden DM.

Pharmacogenomics J. 2013 Aug;13(4):325-9. doi: 10.1038/tpj.2012.14. Epub 2012 May 15.

PubMed [citation]

PMID:: 22584458
PMCID:: PMC3422407

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]

PMID:: 23861362
PMCID:: PMC3887521

Details of each submission

From Ambry Genetics, SCV000736196.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Oct 8, 2024

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