NM_001061.7(TBXAS1):c.954G>T (p.Gln318His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 16, 2022
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:: RCV001874727.4

Allele description [Variation Report for NM_001061.7(TBXAS1):c.954G>T (p.Gln318His)]

NM_001061.7(TBXAS1):c.954G>T (p.Gln318His)

Gene:

TBXAS1:thromboxane A synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_001061.7(TBXAS1):c.954G>T (p.Gln318His)

HGVS:

NC_000007.14:g.139962053G>T
NG_008422.2:g.188672G>T
NM_001061.7:c.954G>TMANE SELECT
NM_001130966.5:c.954G>T
NM_001166253.4:c.1092G>T
NM_001166254.4:c.753G>T
NM_001314028.4:c.897G>T
NM_001366537.3:c.771G>T
NM_030984.6:c.954G>T
NP_001052.3:p.Gln318His
NP_001124438.2:p.Gln318His
NP_001159725.2:p.Gln364His
NP_001159726.1:p.Gln251His
NP_001300957.1:p.Gln299His
NP_001353466.1:p.Gln257His
NP_112246.3:p.Gln318His
LRG_579:g.188672G>T
NC_000007.13:g.139661852G>T

Protein change:

Q251H

Links:

dbSNP: rs2117380430

NCBI 1000 Genomes Browser:

rs2117380430

Molecular consequence:

NM_001061.7:c.954G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130966.5:c.954G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001166253.4:c.1092G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001166254.4:c.753G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001314028.4:c.897G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001366537.3:c.771G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_030984.6:c.954G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002138619	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 16, 2022)	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

SCV002138619

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 16, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002138619.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1372653). This variant has not been reported in the literature in individuals affected with TBXAS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 319 of the TBXAS1 protein (p.Gln319His).

#	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: Sep 29, 2024

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