chr17-79735220-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_178543.5(ENPP7):c.577C>T(p.Leu193Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178543.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENPP7 | NM_178543.5 | c.577C>T | p.Leu193Phe | missense_variant | Exon 3 of 6 | ENST00000328313.10 | NP_848638.3 | |
ENPP7 | XM_011524737.2 | c.670C>T | p.Leu224Phe | missense_variant | Exon 3 of 5 | XP_011523039.2 | ||
ENPP7 | XR_001752505.2 | n.774C>T | non_coding_transcript_exon_variant | Exon 3 of 5 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.577C>T (p.L193F) alteration is located in exon 3 (coding exon 3) of the ENPP7 gene. This alteration results from a C to T substitution at nucleotide position 577, causing the leucine (L) at amino acid position 193 to be replaced by a phenylalanine (F). 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