chr17-79735617-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_178543.5(ENPP7):c.974C>A(p.Pro325His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,486 control chromosomes in the GnomAD database, with no homozygous occurrence. 11/19 in silico tools predict a benign outcome for this variant. 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ENPP7 | NM_178543.5 | c.974C>A | p.Pro325His | missense_variant | 3/6 | ENST00000328313.10 | |
ENPP7 | XM_011524737.2 | c.1067C>A | p.Pro356His | missense_variant | 3/5 | ||
ENPP7 | XR_001752505.2 | n.1171C>A | non_coding_transcript_exon_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENPP7 | ENST00000328313.10 | c.974C>A | p.Pro325His | missense_variant | 3/6 | 1 | NM_178543.5 | P1 | |
ENPP7 | ENST00000576512.1 | c.77C>A | p.Pro26His | missense_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461486Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 727042
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 25, 2023 | The c.974C>A (p.P325H) alteration is located in exon 3 (coding exon 3) of the ENPP7 gene. This alteration results from a C to A substitution at nucleotide position 974, causing the proline (P) at amino acid position 325 to be replaced by a histidine (H). 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
Publications
No publications associated with this variant yet.