chr8-81443464-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_002677.5(PMP2):c.349-16C>G variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000713 in 1,401,560 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 Likely benign (★).
Frequency
Consequence
NM_002677.5 splice_polypyrimidine_tract, intron
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 | UniProt |
---|---|---|---|---|---|---|---|
PMP2 | NM_002677.5 | c.349-16C>G | splice_polypyrimidine_tract_variant, intron_variant | ENST00000256103.3 | |||
PMP2 | NM_001348381.2 | c.176-16C>G | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PMP2 | ENST00000256103.3 | c.349-16C>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_002677.5 | P1 | |||
PMP2 | ENST00000519260.1 | c.176-16C>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | |||||
ENST00000524085.2 | n.298+3371G>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.13e-7 AC: 1AN: 1401560Hom.: 0 Cov.: 22 AF XY: 0.00000143 AC XY: 1AN XY: 698942
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 14, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.