7-141837919-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001008270.3(PRSS37):āc.371A>Gā(p.Asn124Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000102 in 1,613,918 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001008270.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRSS37 | NM_001008270.3 | c.371A>G | p.Asn124Ser | missense_variant | 3/5 | ENST00000350549.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRSS37 | ENST00000350549.8 | c.371A>G | p.Asn124Ser | missense_variant | 3/5 | 1 | NM_001008270.3 | P1 | |
PRSS37 | ENST00000452758.1 | c.*141A>G | 3_prime_UTR_variant, NMD_transcript_variant | 3/5 | 1 | ||||
PRSS37 | ENST00000438520.1 | c.371A>G | p.Asn124Ser | missense_variant | 4/6 | 5 | P1 | ||
PRSS37 | ENST00000419085.5 | c.*1055A>G | 3_prime_UTR_variant, NMD_transcript_variant | 4/7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000199 AC: 50AN: 251378Hom.: 1 AF XY: 0.000169 AC XY: 23AN XY: 135844
GnomAD4 exome AF: 0.0000999 AC: 146AN: 1461796Hom.: 1 Cov.: 31 AF XY: 0.0000990 AC XY: 72AN XY: 727204
GnomAD4 genome AF: 0.000118 AC: 18AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 22, 2024 | The c.371A>G (p.N124S) alteration is located in exon 3 (coding exon 3) of the PRSS37 gene. This alteration results from a A to G substitution at nucleotide position 371, causing the asparagine (N) at amino acid position 124 to be replaced by a serine (S). 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