chr11-61211183-C-T

Variant summary

Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7

The NM_001079807.4(PGA3):​c.867C>T​(p.Pro289Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: 𝑓 0.0046 ( 0 hom., cov: 7)
Exomes 𝑓: 0.0063 ( 1 hom. )
Failed GnomAD Quality Control

Consequence

PGA3
NM_001079807.4 synonymous

Scores

2

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.329
Variant links:
Genes affected
PGA3 (HGNC:8885): (pepsinogen A3) This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -7 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.77).
BP6
Variant 11-61211183-C-T is Benign according to our data. Variant chr11-61211183-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 3777979.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=0.329 with no splicing effect.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
PGA3NM_001079807.4 linkc.867C>T p.Pro289Pro synonymous_variant Exon 7 of 9 ENST00000325558.11 NP_001073275.1 P0DJD8

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
PGA3ENST00000325558.11 linkc.867C>T p.Pro289Pro synonymous_variant Exon 7 of 9 1 NM_001079807.4 ENSP00000322192.6 P0DJD8

Frequencies

GnomAD3 genomes
AF:
0.00456
AC:
281
AN:
61630
Hom.:
0
Cov.:
7
show subpopulations
Gnomad AFR
AF:
0.000667
Gnomad AMI
AF:
0.0234
Gnomad AMR
AF:
0.00744
Gnomad ASJ
AF:
0.0104
Gnomad EAS
AF:
0.000237
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.0185
Gnomad NFE
AF:
0.00759
Gnomad OTH
AF:
0.0106
GnomAD3 exomes
AF:
0.00521
AC:
315
AN:
60404
Hom.:
0
AF XY:
0.00545
AC XY:
167
AN XY:
30656
show subpopulations
Gnomad AFR exome
AF:
0.00107
Gnomad AMR exome
AF:
0.00607
Gnomad ASJ exome
AF:
0.0104
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00149
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.00875
Gnomad OTH exome
AF:
0.0101
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
AF:
0.00626
AC:
2760
AN:
440628
Hom.:
1
Cov.:
4
AF XY:
0.00603
AC XY:
1391
AN XY:
230626
show subpopulations
Gnomad4 AFR exome
AF:
0.00130
Gnomad4 AMR exome
AF:
0.00597
Gnomad4 ASJ exome
AF:
0.0100
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00143
Gnomad4 FIN exome
AF:
0.000640
Gnomad4 NFE exome
AF:
0.00826
Gnomad4 OTH exome
AF:
0.00782
GnomAD4 genome
Data not reliable, filtered out with message: AS_VQSR
AF:
0.00456
AC:
281
AN:
61652
Hom.:
0
Cov.:
7
AF XY:
0.00453
AC XY:
128
AN XY:
28278
show subpopulations
Gnomad4 AFR
AF:
0.000665
Gnomad4 AMR
AF:
0.00742
Gnomad4 ASJ
AF:
0.0104
Gnomad4 EAS
AF:
0.000238
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.00760
Gnomad4 OTH
AF:
0.0104
Alfa
AF:
0.00142
Hom.:
0

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Mar 01, 2025
CeGaT Center for Human Genetics Tuebingen
Significance: Likely benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing

PGA3: BP4, BP7 -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.77
CADD
Benign
11
DANN
Benign
0.78

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs769020840; hg19: chr11-60978655; API