2-187484906-G-T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_006287.6(TFPI):c.440C>A(p.Thr147Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00167 in 1,588,708 control chromosomes in the GnomAD database, including 17 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006287.6 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: 0.00116 AC: 176AN: 151728Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00194 AC: 454AN: 233666Hom.: 4 AF XY: 0.00262 AC XY: 332AN XY: 126728
GnomAD4 exome AF: 0.00172 AC: 2473AN: 1436862Hom.: 17 Cov.: 30 AF XY: 0.00207 AC XY: 1474AN XY: 713062
GnomAD4 genome AF: 0.00115 AC: 174AN: 151846Hom.: 0 Cov.: 32 AF XY: 0.00135 AC XY: 100AN XY: 74230
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at