2-187467845-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006287.6(TFPI):āc.716T>Cā(p.Ile239Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000298 in 1,612,718 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006287.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TFPI | NM_006287.6 | c.716T>C | p.Ile239Thr | missense_variant | 7/8 | ENST00000233156.9 | NP_006278.1 | |
CALCRL-AS1 | XR_007087504.1 | n.3420-31661A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TFPI | ENST00000233156.9 | c.716T>C | p.Ile239Thr | missense_variant | 7/8 | 1 | NM_006287.6 | ENSP00000233156 | P1 | |
CALCRL-AS1 | ENST00000412276.6 | n.190-31661A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152034Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000280 AC: 7AN: 250252Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135286
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1460684Hom.: 0 Cov.: 30 AF XY: 0.0000303 AC XY: 22AN XY: 726688
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152034Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74252
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 26, 2023 | The c.716T>C (p.I239T) alteration is located in exon 7 (coding exon 6) of the TFPI gene. This alteration results from a T to C substitution at nucleotide position 716, causing the isoleucine (I) at amino acid position 239 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at