chr9-131436658-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013318.4(PRRC2B):c.332C>T(p.Pro111Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000108 in 1,614,030 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013318.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRRC2B | NM_013318.4 | c.332C>T | p.Pro111Leu | missense_variant | 4/32 | ENST00000683519.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRRC2B | ENST00000683519.1 | c.332C>T | p.Pro111Leu | missense_variant | 4/32 | NM_013318.4 | P2 | ||
ENST00000691540.1 | c.75C>T | p.Ala25= | synonymous_variant | 2/5 | P1 | ||||
PRRC2B | ENST00000684596.1 | c.332C>T | p.Pro111Leu | missense_variant | 4/32 | P2 | |||
PRRC2B | ENST00000682501.1 | c.332C>T | p.Pro111Leu | missense_variant | 4/31 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152240Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249174Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135190
GnomAD4 exome AF: 0.000111 AC: 162AN: 1461672Hom.: 0 Cov.: 30 AF XY: 0.000109 AC XY: 79AN XY: 727122
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152358Hom.: 0 Cov.: 32 AF XY: 0.0000805 AC XY: 6AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 22, 2021 | The c.332C>T (p.P111L) alteration is located in exon 3 (coding exon 3) of the PRRC2B gene. This alteration results from a C to T substitution at nucleotide position 332, causing the proline (P) at amino acid position 111 to be replaced by a leucine (L). 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