chr14-70978353-G-A
Position:
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_014982.3(PCNX1):c.2016G>A(p.Lys672=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00581 in 1,614,142 control chromosomes in the GnomAD database, including 449 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.032 ( 221 hom., cov: 31)
Exomes 𝑓: 0.0031 ( 228 hom. )
Consequence
PCNX1
NM_014982.3 synonymous
NM_014982.3 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 3.25
Genes affected
PCNX1 (HGNC:19740): (pecanex 1) This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -19 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.45).
BP6
Variant 14-70978353-G-A is Benign according to our data. Variant chr14-70978353-G-A is described in ClinVar as [Benign]. Clinvar id is 768660.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
Synonymous conserved (PhyloP=3.25 with no splicing effect.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.106 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PCNX1 | NM_014982.3 | c.2016G>A | p.Lys672= | synonymous_variant | 6/36 | ENST00000304743.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PCNX1 | ENST00000304743.7 | c.2016G>A | p.Lys672= | synonymous_variant | 6/36 | 1 | NM_014982.3 | P4 | |
PCNX1 | ENST00000439984.7 | c.2016G>A | p.Lys672= | synonymous_variant | 6/34 | 1 | A1 | ||
PCNX1 | ENST00000554879.5 | n.2462G>A | non_coding_transcript_exon_variant | 6/10 | 1 | ||||
PCNX1 | ENST00000556846.1 | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0315 AC: 4787AN: 152136Hom.: 220 Cov.: 31
GnomAD3 genomes
AF:
AC:
4787
AN:
152136
Hom.:
Cov.:
31
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD3 exomes AF: 0.00818 AC: 2057AN: 251372Hom.: 93 AF XY: 0.00569 AC XY: 773AN XY: 135860
GnomAD3 exomes
AF:
AC:
2057
AN:
251372
Hom.:
AF XY:
AC XY:
773
AN XY:
135860
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad SAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.00313 AC: 4577AN: 1461888Hom.: 228 Cov.: 35 AF XY: 0.00262 AC XY: 1902AN XY: 727248
GnomAD4 exome
AF:
AC:
4577
AN:
1461888
Hom.:
Cov.:
35
AF XY:
AC XY:
1902
AN XY:
727248
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome AF: 0.0316 AC: 4804AN: 152254Hom.: 221 Cov.: 31 AF XY: 0.0297 AC XY: 2211AN XY: 74454
GnomAD4 genome
AF:
AC:
4804
AN:
152254
Hom.:
Cov.:
31
AF XY:
AC XY:
2211
AN XY:
74454
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
25
AN:
3478
EpiCase
AF:
EpiControl
AF:
ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 31, 2019 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at