7-141973041-T-C

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate

The NM_176817.5(TAS2R38):​c.649A>G​(p.Thr217Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 31)

Consequence

TAS2R38
NM_176817.5 missense

Scores

2
17

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.0470
Variant links:
Genes affected
TAS2R38 (HGNC:9584): (taste 2 receptor member 38) This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 2009]
MGAM (HGNC:7043): (maltase-glucoamylase) This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.08682299).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
TAS2R38NM_176817.5 linkc.649A>G p.Thr217Ala missense_variant Exon 1 of 1 ENST00000547270.1 NP_789787.5 P59533

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
TAS2R38ENST00000547270.1 linkc.649A>G p.Thr217Ala missense_variant Exon 1 of 1 6 NM_176817.5 ENSP00000448219.1 P59533
MGAMENST00000465654.5 linkc.-3+27044T>C intron_variant Intron 2 of 5 3 ENSP00000419372.1 E7EW87

Frequencies

GnomAD3 genomes
Cov.:
31
GnomAD4 exome
Cov.:
62
GnomAD4 genome
Cov.:
31
Bravo
AF:
0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.085
BayesDel_addAF
Benign
-0.31
T
BayesDel_noAF
Benign
-0.69
CADD
Benign
18
DANN
Benign
0.97
DEOGEN2
Benign
0.0076
T
Eigen
Benign
-0.83
Eigen_PC
Benign
-0.84
FATHMM_MKL
Benign
0.033
N
LIST_S2
Benign
0.77
T
M_CAP
Benign
0.014
T
MetaRNN
Benign
0.087
T
MetaSVM
Benign
-0.90
T
MutationAssessor
Benign
0.69
N
PrimateAI
Benign
0.24
T
PROVEAN
Benign
-0.18
N
REVEL
Benign
0.034
Sift
Uncertain
0.0050
D
Sift4G
Uncertain
0.041
D
Polyphen
0.027
B
Vest4
0.10
MutPred
0.54
Gain of MoRF binding (P = 0.126);
MVP
0.095
MPC
0.22
ClinPred
0.19
T
GERP RS
0.65
Varity_R
0.057
gMVP
0.056

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.010
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.

Other links and lift over

dbSNP: rs142321204; hg19: chr7-141672841; API