6-132588872-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_003967.3(TAAR5):c.815C>T(p.Thr272Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00176 in 1,614,112 control chromosomes in the GnomAD database, including 27 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003967.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAAR5 | NM_003967.3 | c.815C>T | p.Thr272Met | missense_variant | 1/1 | ENST00000258034.4 | NP_003958.2 | |
TAAR5 | NM_001389527.1 | c.815C>T | p.Thr272Met | missense_variant | 4/4 | NP_001376456.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAAR5 | ENST00000258034.4 | c.815C>T | p.Thr272Met | missense_variant | 1/1 | 6 | NM_003967.3 | ENSP00000258034.2 |
Frequencies
GnomAD3 genomes AF: 0.00743 AC: 1131AN: 152144Hom.: 12 Cov.: 31
GnomAD3 exomes AF: 0.00216 AC: 542AN: 251090Hom.: 8 AF XY: 0.00171 AC XY: 232AN XY: 135700
GnomAD4 exome AF: 0.00117 AC: 1704AN: 1461850Hom.: 15 Cov.: 30 AF XY: 0.00105 AC XY: 765AN XY: 727230
GnomAD4 genome AF: 0.00743 AC: 1131AN: 152262Hom.: 12 Cov.: 31 AF XY: 0.00756 AC XY: 563AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at