chr12-55957383-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001384361.1(PMEL):c.920C>A(p.Pro307Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000138 in 1,446,032 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P307T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001384361.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PMEL | NM_001384361.1 | c.920C>A | p.Pro307Gln | missense_variant | 6/11 | ENST00000548747.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PMEL | ENST00000548747.6 | c.920C>A | p.Pro307Gln | missense_variant | 6/11 | 1 | NM_001384361.1 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 238822Hom.: 0 AF XY: 0.00000779 AC XY: 1AN XY: 128416
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1446032Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 717324
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2023 | The c.920C>A (p.P307Q) alteration is located in exon 6 (coding exon 6) of the PMEL gene. This alteration results from a C to A substitution at nucleotide position 920, causing the proline (P) at amino acid position 307 to be replaced by a glutamine (Q). 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