rs11466655
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_030956.4(TLR10):c.1142G>A(p.Gly381Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0167 in 1,611,924 control chromosomes in the GnomAD database, including 1,328 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_030956.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TLR10 | NM_030956.4 | c.1142G>A | p.Gly381Asp | missense_variant | 4/4 | ENST00000308973.9 | NP_112218.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TLR10 | ENST00000308973.9 | c.1142G>A | p.Gly381Asp | missense_variant | 4/4 | 5 | NM_030956.4 | ENSP00000308925 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0222 AC: 3383AN: 152156Hom.: 159 Cov.: 32
GnomAD3 exomes AF: 0.0323 AC: 8021AN: 248502Hom.: 555 AF XY: 0.0338 AC XY: 4534AN XY: 134222
GnomAD4 exome AF: 0.0161 AC: 23531AN: 1459650Hom.: 1169 Cov.: 35 AF XY: 0.0178 AC XY: 12912AN XY: 725976
GnomAD4 genome AF: 0.0222 AC: 3387AN: 152274Hom.: 159 Cov.: 32 AF XY: 0.0239 AC XY: 1780AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at