chr5-147831542-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001379610.1(SPINK1):āc.36G>Cā(p.Leu12Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0053 in 1,613,622 control chromosomes in the GnomAD database, including 418 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001379610.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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SPINK1 | NM_001379610.1 | c.36G>C | p.Leu12Phe | missense_variant | Exon 1 of 4 | ENST00000296695.10 | NP_001366539.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0290 AC: 4419AN: 152160Hom.: 238 Cov.: 33
GnomAD3 exomes AF: 0.00745 AC: 1866AN: 250630Hom.: 103 AF XY: 0.00514 AC XY: 696AN XY: 135444
GnomAD4 exome AF: 0.00283 AC: 4131AN: 1461344Hom.: 180 Cov.: 30 AF XY: 0.00240 AC XY: 1743AN XY: 726996
GnomAD4 genome AF: 0.0291 AC: 4427AN: 152278Hom.: 238 Cov.: 33 AF XY: 0.0276 AC XY: 2057AN XY: 74450
ClinVar
Submissions by phenotype
Hereditary pancreatitis Benign:6
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
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This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
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not provided Benign:4
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This variant is associated with the following publications: (PMID: 27086061, 17568390, 20981092, 28994706, 17274009, 17003641) -
not specified Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at