15-72265451-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001323532.2(PARP6):c.199G>A(p.Val67Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,613,348 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001323532.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PARP6 | NM_001323532.2 | c.199G>A | p.Val67Met | missense_variant | Exon 6 of 24 | ENST00000569795.6 | NP_001310461.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249578Hom.: 0 AF XY: 0.0000591 AC XY: 8AN XY: 135404
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461192Hom.: 0 Cov.: 30 AF XY: 0.0000289 AC XY: 21AN XY: 726978
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.199G>A (p.V67M) alteration is located in exon 5 (coding exon 4) of the PARP6 gene. This alteration results from a G to A substitution at nucleotide position 199, causing the valine (V) at amino acid position 67 to be replaced by a methionine (M). 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