chr1-2476619-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014638.4(PLCH2):c.31C>T(p.Arg11Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00015 in 1,595,370 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014638.4 missense
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 |
---|---|---|---|---|---|---|---|
PLCH2 | NM_014638.4 | c.31C>T | p.Arg11Trp | missense_variant | 1/22 | ENST00000378486.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLCH2 | ENST00000378486.8 | c.31C>T | p.Arg11Trp | missense_variant | 1/22 | 1 | NM_014638.4 | P2 | |
PLCH2 | ENST00000419816.6 | c.31C>T | p.Arg11Trp | missense_variant | 1/22 | 5 | P2 | ||
PLCH2 | ENST00000449969.5 | c.44-1857C>T | intron_variant | 5 | A2 | ||||
PLCH2 | ENST00000609981.5 | c.116-1857C>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000204 AC: 31AN: 152236Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000164 AC: 36AN: 218884Hom.: 0 AF XY: 0.000117 AC XY: 14AN XY: 119512
GnomAD4 exome AF: 0.000144 AC: 208AN: 1443134Hom.: 0 Cov.: 31 AF XY: 0.000131 AC XY: 94AN XY: 716814
GnomAD4 genome ? AF: 0.000204 AC: 31AN: 152236Hom.: 0 Cov.: 34 AF XY: 0.000269 AC XY: 20AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 06, 2021 | The c.31C>T (p.R11W) alteration is located in exon 1 (coding exon 1) of the PLCH2 gene. This alteration results from a C to T substitution at nucleotide position 31, causing the arginine (R) at amino acid position 11 to be replaced by a tryptophan (W). 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