NM_016562.4:c.1343C>T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_016562.4(TLR7):c.1343C>T(p.Ala448Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00416 in 1,208,256 control chromosomes in the GnomAD database, including 24 homozygotes. There are 1,602 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_016562.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00284 AC: 317AN: 111780Hom.: 1 Cov.: 23 AF XY: 0.00209 AC XY: 71AN XY: 33992
GnomAD3 exomes AF: 0.00290 AC: 525AN: 181053Hom.: 3 AF XY: 0.00270 AC XY: 180AN XY: 66687
GnomAD4 exome AF: 0.00429 AC: 4708AN: 1096425Hom.: 23 Cov.: 32 AF XY: 0.00423 AC XY: 1531AN XY: 361869
GnomAD4 genome AF: 0.00283 AC: 317AN: 111831Hom.: 1 Cov.: 23 AF XY: 0.00208 AC XY: 71AN XY: 34053
ClinVar
Submissions by phenotype
not provided Benign:3
TLR7: BP4, BS1, BS2 -
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TLR7-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at