NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 20, 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:: RCV004725338.3

Allele description [Variation Report for NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)]

NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)

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.1004C>T (p.Ala335Val)

HGVS:

NC_000022.11:g.19765970C>T
NG_009229.1:g.14268C>T
NM_001379200.1:c.1004C>TMANE SELECT
NM_005992.1:c.977C>T
NM_080646.2:c.977C>T
NM_080647.1:c.977C>T
NP_001366129.1:p.Ala335Val
NP_005983.1:p.Ala326Val
NP_542377.1:p.Ala326Val
NP_542378.1:p.Ala326Val
LRG_226t1:c.977C>T
LRG_226:g.14268C>T
LRG_226p1:p.Ala326Val
NC_000022.10:g.19753493C>T

Protein change:

A326V

Links:

dbSNP: rs1936824289

Molecular consequence:

NM_001379200.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005992.1:c.977C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_080646.2:c.977C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_080647.1:c.977C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Conotruncal heart malformations (CTHM)
Synonyms:: Conotruncal heart malformations, variable
Identifiers:: MONDO: MONDO:0016581; MedGen: C1857586; Orphanet: 3384; Orphanet: 3426; OMIM: 217095

Name:: Velocardiofacial syndrome (VCFS)
Synonyms:: SHPRINTZEN VCF SYNDROME; VCF SYNDROME; Shprintzen syndrome
Identifiers:: MONDO: MONDO:0008644; MedGen: C0220704; Orphanet: 567; OMIM: 192430

Name:: DiGeorge syndrome
Synonyms:: THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME; Catch22
Identifiers:: MONDO: MONDO:0008564; MedGen: C0012236; Orphanet: 567; OMIM: 188400

Name:: Tetralogy of Fallot (TOF)
Identifiers:: MONDO: MONDO:0008542; MedGen: C0039685; Orphanet: 3303; OMIM: 187500; Human Phenotype Ontology: HP:0001636

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005328754	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 20, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005328754

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Sep 20, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From 3billion, SCV005328754.1

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

Description

The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 23, 2026

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