rs776946965
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_006031.6(PCNT):c.4356G>A(p.Gly1452=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,860 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 (★). Synonymous variant affecting the same amino acid position (i.e. G1452G) has been classified as Likely benign.
Frequency
Consequence
NM_006031.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PCNT | NM_006031.6 | c.4356G>A | p.Gly1452= | synonymous_variant | 22/47 | ENST00000359568.10 | |
PCNT | NM_001315529.2 | c.4002G>A | p.Gly1334= | synonymous_variant | 22/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PCNT | ENST00000359568.10 | c.4356G>A | p.Gly1452= | synonymous_variant | 22/47 | 1 | NM_006031.6 | P2 | |
PCNT | ENST00000480896.5 | c.4002G>A | p.Gly1334= | synonymous_variant | 22/47 | 1 | A2 | ||
PCNT | ENST00000695558.1 | c.4389G>A | p.Gly1463= | synonymous_variant | 23/48 | A2 | |||
PCNT | ENST00000703224.1 | c.*3599G>A | 3_prime_UTR_variant, NMD_transcript_variant | 24/49 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461860Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727234
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Mar 01, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at