chr7-93890175-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006528.4(TFPI2):c.233C>G(p.Thr78Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,613,098 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 (★).
Frequency
Consequence
NM_006528.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TFPI2 | NM_006528.4 | c.233C>G | p.Thr78Ser | missense_variant | 2/5 | ENST00000222543.11 | |
TFPI2 | NM_001271003.2 | c.200C>G | p.Thr67Ser | missense_variant | 2/5 | ||
TFPI2 | NM_001271004.2 | c.233C>G | p.Thr78Ser | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TFPI2 | ENST00000222543.11 | c.233C>G | p.Thr78Ser | missense_variant | 2/5 | 1 | NM_006528.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250592Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135528
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1460874Hom.: 0 Cov.: 31 AF XY: 0.0000344 AC XY: 25AN XY: 726586
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152224Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.233C>G (p.T78S) alteration is located in exon 2 (coding exon 2) of the TFPI2 gene. This alteration results from a C to G substitution at nucleotide position 233, causing the threonine (T) at amino acid position 78 to be replaced by a serine (S). 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