chr7:142750561:C>T Detail (hg38) (PRSS1, TRB)

Information

Genome

Assembly Position
hg19 chr7:142,458,412-142,458,412 View the variant detail on this assembly version.
hg38 chr7:142,750,561-142,750,561

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000311737.12:c.47C>T ENST00000311737.12:p.Ala16Val
ENST00000486171.5:c.47C>T ENST00000486171.5:p.Ala16Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.021
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 276000 OMIM
HGNC 9475 HGNC
Ensembl ENSG00000204983 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31280015 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-18 criteria provided, multiple submitters, no conflicts Hereditary pancreatitis germline unknown Detail
no classifications from unflagged records 2023-12-07 no classifications from unflagged records unknown Detail
Pathogenic 2023-05-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.268 Hereditary pancreatitis Three-point mutations (R117H, N211, A16V) within the cationic trypsinogen gene h... BeFree 11138965 Detail
0.414 pancreatitis The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in... BeFree 19951905 Detail
0.414 pancreatitis Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and tw... BeFree 17148697 Detail
0.268 Hereditary pancreatitis The most common mutations in hereditary pancreatitis are R122H, N29I and A16V bu... BeFree 16358943 Detail
0.268 Hereditary pancreatitis Among the known PRSS1 mutations, only the R122H was detected in a single subject... BeFree 11260229 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) AND Hereditary pancreatitis ClinVar Detail
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) AND Recurrent pancreatitis ClinVar Detail
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) AND not provided ClinVar Detail
Three-point mutations (R117H, N211, A16V) within the cationic trypsinogen gene have been identified ... DisGeNET Detail
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis famili... DisGeNET Detail
Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S an... DisGeNET Detail
The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have... DisGeNET Detail
Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs202003805 dbSNP
Genome
hg38
Position
chr7:142,750,561-142,750,561
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
484
Mean of sample read depth (HGVD)
27.45
Standard deviation of sample read depth (HGVD)
82.33
Number of reference allele (HGVD)
948
Number of alternative allele (HGVD)
20
Allele Frequency (HGVD)
0.02066115702479339
Gene Symbol (HGVD)
PRSS1
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
18
East Asian Heterozygous Counts (ExAC)
18
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0020823692734844978
Chromosome Counts in All Race (ExAC)
120642
Allele Counts in All Race (ExAC)
1935
Heterozygous Counts in All Race (ExAC)
1935
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.01603919033172527
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