rs34364959
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014555.4(TRPM5):c.2698G>A(p.Gly900Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0849 in 1,612,000 control chromosomes in the GnomAD database, including 6,331 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 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
Consequence
NM_014555.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPM5 | NM_014555.4 | c.2698G>A | p.Gly900Ser | missense_variant | 23/29 | ENST00000696290.1 | |
TRPM5 | XM_017017628.2 | c.2752G>A | p.Gly918Ser | missense_variant | 20/26 | ||
TRPM5 | XM_047426858.1 | c.2752G>A | p.Gly918Ser | missense_variant | 20/26 | ||
TRPM5 | XM_047426859.1 | c.1549G>A | p.Gly517Ser | missense_variant | 11/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPM5 | ENST00000696290.1 | c.2698G>A | p.Gly900Ser | missense_variant | 23/29 | NM_014555.4 | P2 | ||
TRPM5 | ENST00000533060.5 | c.2698G>A | p.Gly900Ser | missense_variant | 18/24 | 1 | A2 | ||
TRPM5 | ENST00000528453.1 | c.2698G>A | p.Gly900Ser | missense_variant | 18/24 | 1 | A2 | ||
TRPM5 | ENST00000533881.5 | c.2680G>A | p.Gly894Ser | missense_variant | 18/24 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0768 AC: 11682AN: 152194Hom.: 518 Cov.: 33
GnomAD3 exomes AF: 0.0724 AC: 17989AN: 248326Hom.: 801 AF XY: 0.0738 AC XY: 9961AN XY: 134954
GnomAD4 exome AF: 0.0857 AC: 125159AN: 1459688Hom.: 5813 Cov.: 31 AF XY: 0.0839 AC XY: 60908AN XY: 726036
GnomAD4 genome ? AF: 0.0767 AC: 11687AN: 152312Hom.: 518 Cov.: 33 AF XY: 0.0767 AC XY: 5713AN XY: 74470
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at