rs7593557
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_024080.5(TRPM8):c.1256G>A(p.Ser419Asn) variant causes a missense change. The variant allele was found at a frequency of 0.101 in 1,613,196 control chromosomes in the GnomAD database, including 22,097 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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_024080.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRPM8 | NM_024080.5 | c.1256G>A | p.Ser419Asn | missense_variant | 11/26 | ENST00000324695.9 | NP_076985.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRPM8 | ENST00000324695.9 | c.1256G>A | p.Ser419Asn | missense_variant | 11/26 | 1 | NM_024080.5 | ENSP00000323926 | P1 | |
ENST00000455991.1 | n.292C>T | non_coding_transcript_exon_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.219 AC: 33281AN: 152068Hom.: 7355 Cov.: 32
GnomAD3 exomes AF: 0.148 AC: 37194AN: 251112Hom.: 5982 AF XY: 0.139 AC XY: 18863AN XY: 135704
GnomAD4 exome AF: 0.0891 AC: 130135AN: 1461010Hom.: 14707 Cov.: 30 AF XY: 0.0905 AC XY: 65774AN XY: 726856
GnomAD4 genome AF: 0.219 AC: 33377AN: 152186Hom.: 7390 Cov.: 32 AF XY: 0.218 AC XY: 16243AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at