U.S. flag

An official website of the United States government

NM_001379200.1(TBX1):c.324G>A (p.Ala108=) AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Dec 31, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000993260.4

Allele description [Variation Report for NM_001379200.1(TBX1):c.324G>A (p.Ala108=)]

NM_001379200.1(TBX1):c.324G>A (p.Ala108=)

Gene:
TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_001379200.1(TBX1):c.324G>A (p.Ala108=)
HGVS:
  • NC_000022.11:g.19761167G>A
  • NG_009229.1:g.9465G>A
  • NM_001379200.1:c.324G>AMANE SELECT
  • NM_005992.1:c.297G>A
  • NM_080646.2:c.297G>A
  • NM_080647.1:c.297G>A
  • NP_001366129.1:p.Ala108=
  • NP_005983.1:p.Ala99=
  • NP_542377.1:p.Ala99=
  • NP_542378.1:p.Ala99=
  • LRG_226t1:c.297G>A
  • LRG_226:g.9465G>A
  • LRG_226p1:p.Ala99=
  • NC_000022.10:g.19748690G>A
Links:
dbSNP: rs72646953
NCBI 1000 Genomes Browser:
rs72646953
Molecular consequence:
  • NM_001379200.1:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005992.1:c.297G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080646.2:c.297G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080647.1:c.297G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV001146089Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Dec 31, 2018) 		germlineclinical testing

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

SCV001944035GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Mar 3, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.

Rauch A, Devriendt K, Koch A, Rauch R, Gewillig M, Kraus C, Weyand M, Singer H, Reis A, Hofbeck M.

J Med Genet. 2004 Apr;41(4):e40. No abstract available.

PubMed [citation]
PMID:
15060116
PMCID:
PMC1735727

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV001146089.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001944035.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024