chr12-55957193-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001384361.1(PMEL):c.1110G>C(p.Glu370Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00594 in 1,614,200 control chromosomes in the GnomAD database, including 245 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001384361.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PMEL | NM_001384361.1 | c.1110G>C | p.Glu370Asp | missense_variant | 6/11 | ENST00000548747.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PMEL | ENST00000548747.6 | c.1110G>C | p.Glu370Asp | missense_variant | 6/11 | 1 | NM_001384361.1 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0234 AC: 3569AN: 152210Hom.: 116 Cov.: 32
GnomAD3 exomes AF: 0.00789 AC: 1984AN: 251480Hom.: 58 AF XY: 0.00669 AC XY: 909AN XY: 135920
GnomAD4 exome AF: 0.00412 AC: 6016AN: 1461872Hom.: 129 Cov.: 32 AF XY: 0.00387 AC XY: 2811AN XY: 727242
GnomAD4 genome ? AF: 0.0235 AC: 3577AN: 152328Hom.: 116 Cov.: 32 AF XY: 0.0227 AC XY: 1694AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 23, 2019 | This variant is associated with the following publications: (PMID: 30561643) - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at