4-38774614-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_030956.4(TLR10):āc.977T>Cā(p.Met326Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0412 in 1,588,362 control chromosomes in the GnomAD database, including 2,771 homozygotes. In-silico tool predicts 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 | UniProt |
---|---|---|---|---|---|---|---|
TLR10 | NM_030956.4 | c.977T>C | p.Met326Thr | missense_variant | 4/4 | ENST00000308973.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR10 | ENST00000308973.9 | c.977T>C | p.Met326Thr | missense_variant | 4/4 | 5 | NM_030956.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0444 AC: 6760AN: 152190Hom.: 299 Cov.: 33
GnomAD3 exomes AF: 0.0642 AC: 14567AN: 226738Hom.: 782 AF XY: 0.0665 AC XY: 8138AN XY: 122368
GnomAD4 exome AF: 0.0409 AC: 58733AN: 1436054Hom.: 2466 Cov.: 36 AF XY: 0.0444 AC XY: 31637AN XY: 713088
GnomAD4 genome AF: 0.0445 AC: 6772AN: 152308Hom.: 305 Cov.: 33 AF XY: 0.0471 AC XY: 3507AN XY: 74476
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at