rs1556314
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003307.4(TRPM2):āc.1629T>Gā(p.Asp543Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.21 in 1,612,776 control chromosomes in the GnomAD database, including 36,494 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003307.4 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 |
---|---|---|---|---|---|---|---|
TRPM2 | NM_003307.4 | c.1629T>G | p.Asp543Glu | missense_variant | 11/32 | ENST00000397928.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPM2 | ENST00000397928.6 | c.1629T>G | p.Asp543Glu | missense_variant | 11/32 | 1 | NM_003307.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.226 AC: 34367AN: 152026Hom.: 4031 Cov.: 32
GnomAD3 exomes AF: 0.208 AC: 51583AN: 247730Hom.: 5703 AF XY: 0.202 AC XY: 27233AN XY: 134510
GnomAD4 exome AF: 0.208 AC: 303876AN: 1460632Hom.: 32441 Cov.: 34 AF XY: 0.206 AC XY: 149863AN XY: 726582
GnomAD4 genome ? AF: 0.226 AC: 34448AN: 152144Hom.: 4053 Cov.: 32 AF XY: 0.227 AC XY: 16843AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at