chr7-143478285-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_176883.2(TAS2R41):c.413T>A(p.Val138Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000224 in 1,613,930 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V138I) has been classified as Uncertain significance.
Frequency
Consequence
NM_176883.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R41 | NM_176883.2 | c.413T>A | p.Val138Asp | missense_variant | 1/1 | ENST00000408916.1 | |
EPHA1-AS1 | NR_033897.1 | n.207-26489T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R41 | ENST00000408916.1 | c.413T>A | p.Val138Asp | missense_variant | 1/1 | NM_176883.2 | P1 | ||
EPHA1-AS1 | ENST00000429289.5 | n.207-26489T>A | intron_variant, non_coding_transcript_variant | 1 | |||||
EPHA1-AS1 | ENST00000690912.1 | n.228-17681T>A | intron_variant, non_coding_transcript_variant | ||||||
EPHA1-AS1 | ENST00000703017.1 | n.206-17681T>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000125 AC: 19AN: 152052Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000108 AC: 27AN: 249196Hom.: 0 AF XY: 0.0000740 AC XY: 10AN XY: 135194
GnomAD4 exome AF: 0.000235 AC: 343AN: 1461878Hom.: 0 Cov.: 34 AF XY: 0.000204 AC XY: 148AN XY: 727238
GnomAD4 genome ? AF: 0.000125 AC: 19AN: 152052Hom.: 0 Cov.: 31 AF XY: 0.0000808 AC XY: 6AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 02, 2023 | The c.413T>A (p.V138D) alteration is located in exon 1 (coding exon 1) of the TAS2R41 gene. This alteration results from a T to A substitution at nucleotide position 413, causing the valine (V) at amino acid position 138 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at