U.S. flag

An official website of the United States government

NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) AND Long QT syndrome 12

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV001143394.12

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:
Long QT syndrome 12 (LQT12)
Identifiers:
MONDO: MONDO:0013062; MedGen: C2751830; Orphanet: 101016; Orphanet: 768; OMIM: 612955

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001303917Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 28, 2017) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

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
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001303917.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024