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NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 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:
RCV001388651.3

Allele description [Variation Report for NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)]

NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)

Gene:
GNAT1:G protein subunit alpha transducin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)
HGVS:
  • NC_000003.12:g.50193388C>A
  • NG_009831.1:g.6779C>A
  • NM_000172.4:c.273C>A
  • NM_144499.3:c.273C>AMANE SELECT
  • NP_000163.2:p.Tyr91Ter
  • NP_653082.1:p.Tyr91Ter
  • NC_000003.11:g.50230821C>A
Protein change:
Y91*
Links:
dbSNP: rs143481438
NCBI 1000 Genomes Browser:
rs143481438
Molecular consequence:
  • NM_000172.4:c.273C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_144499.3:c.273C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001589724Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jul 22, 2022)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Phototransduction in transgenic mice after targeted deletion of the rod transducin alpha -subunit.

Calvert PD, Krasnoperova NV, Lyubarsky AL, Isayama T, Nicoló M, Kosaras B, Wong G, Gannon KS, Margolskee RF, Sidman RL, Pugh EN Jr, Makino CL, Lem J.

Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):13913-8. Erratum in: Proc Natl Acad Sci U S A 2001 Aug 28;98(18):10515.

PubMed [citation]
PMID:
11095744
PMCID:
PMC17675

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC, García-Montaño LA, Cruz-Aguilar M, Ronquillo J, Rodas-Serrano A, Aguilar-Castul L, Matsui R, Vencedor-Meraz CI, Arce-González R, Graue-Wiechers F, Gutiérrez-Paz M, Urrea-Victoria T, de Dios Cuadras U, Chacón-Camacho OF.

Mol Genet Genomic Med. 2020 Jan;8(1). doi: 10.1002/mgg3.1044. Epub 2019 Nov 17.

PubMed [citation]
PMID:
31736247
PMCID:
PMC6978239
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001589724.3

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

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1075132). This variant has not been reported in the literature in individuals affected with GNAT1-related conditions. This variant is present in population databases (rs143481438, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Tyr91*) in the GNAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNAT1 are known to be pathogenic (PMID: 11095744, 31736247).

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

Last Updated: Feb 20, 2024