Variant chr12-11092194-C-T details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1

The NM_176884.2(TAS2R43):c.36G>A(p.Leu12Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.248 in 657,874 control chromosomes in the GnomAD database, including 45,065 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.32 ( 2076 hom., cov: 21)

Exomes 𝑓: 0.25 ( 45065 hom. )

Failed GnomAD Quality Control

Consequence

TAS2R43
NM_176884.2 synonymous

Scores

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -1.60

Variant links:

Genes affected

TAS2R43 (HGNC:18875): (taste 2 receptor member 43) TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]

TAS2R43 links:

PRH1 (HGNC:9366): (proline rich protein HaeIII subfamily 1) This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

PRH1 links:

PRH1-TAS2R14 (HGNC:):

PRH1-TAS2R14 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -15 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.99).

BP6

Variant 12-11092194-C-T is Benign according to our data. Variant chr12-11092194-C-T is described in ClinVar as [Benign]. Clinvar id is 768528.Status of the report is criteria_provided_single_submitter, 1 stars.

BP7

Synonymous conserved (PhyloP=-1.6 with no splicing effect.

BA1

GnomAdExome4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.351 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TAS2R43	NM_176884.2 linkuse as main transcript	c.36G>A	p.Leu12Leu	synonymous_variant	1/1	ENST00000531678.1	NP_795365.2	P59537

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TAS2R43	ENST00000531678.1 linkuse as main transcript	c.36G>A	p.Leu12Leu	synonymous_variant	1/1	6	NM_176884.2	ENSP00000431719.1		P59537

Frequencies

GnomAD3 genomes

AF:

0.325

AC:

24999

AN:

76998

Hom.:

2076

Cov.:

show subpopulations

Gnomad AFR

AF:

0.164

Gnomad AMI

AF:

0.495

Gnomad AMR

AF:

0.349

Gnomad ASJ

AF:

0.364

Gnomad EAS

AF:

0.386

Gnomad SAS

AF:

0.315

Gnomad FIN

AF:

0.449

Gnomad MID

AF:

0.313

Gnomad NFE

AF:

0.416

Gnomad OTH

AF:

0.324

GnomAD3 exomes

AF:

0.00137

AC:

266

AN:

194368

Hom.:

109

AF XY:

0.000927

AC XY:

AN XY:

106770

show subpopulations

Gnomad AFR exome

AF:

0.000456

Gnomad AMR exome

AF:

0.000545

Gnomad ASJ exome

AF:

0.000450

Gnomad EAS exome

AF:

0.000116

Gnomad SAS exome

AF:

0.0000355

Gnomad FIN exome

AF:

0.00178

Gnomad NFE exome

AF:

0.00254

Gnomad OTH exome

AF:

0.00169

GnomAD4 exome

AF:

0.248

AC:

162864

AN:

657874

Hom.:

45065

Cov.:

AF XY:

0.254

AC XY:

83097

AN XY:

327412

show subpopulations

Gnomad4 AFR exome

AF:

0.0865

Gnomad4 AMR exome

AF:

0.358

Gnomad4 ASJ exome

AF:

0.198

Gnomad4 EAS exome

AF:

0.263

Gnomad4 SAS exome

AF:

0.224

Gnomad4 FIN exome

AF:

0.546

Gnomad4 NFE exome

AF:

0.237

Gnomad4 OTH exome

AF:

0.261

GnomAD4 genome

Data not reliable, filtered out with message: AS_VQSR

AF:

0.324

AC:

25008

AN:

77112

Hom.:

2076

Cov.:

AF XY:

0.328

AC XY:

12260

AN XY:

37370

show subpopulations

Gnomad4 AFR

AF:

0.163

Gnomad4 AMR

AF:

0.350

Gnomad4 ASJ

AF:

0.364

Gnomad4 EAS

AF:

0.386

Gnomad4 SAS

AF:

0.316

Gnomad4 FIN

AF:

0.449

Gnomad4 NFE

AF:

0.416

Gnomad4 OTH

AF:

0.322

Alfa

AF:

0.525

Hom.:

1928

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Benign:1

Benign, criteria provided, single submitter

clinical testing

Labcorp Genetics (formerly Invitae), Labcorp

Jul 25, 2017

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.99

CADD

Benign

0.25

DANN

Benign

0.45

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.020

Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over