NM_198252.3:c.-10+1754dupT
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Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_198252.3(GSN):c.-10+1754dupT variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.0012 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0032 ( 0 hom. )
Consequence
GSN
NM_198252.3 intron
NM_198252.3 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.469
Genes affected
GSN (HGNC:4620): (gelsolin) The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High AC in GnomAd4 at 165 AD gene.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00121 AC: 165AN: 136052Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.00318 AC: 15AN: 4716Hom.: 0 Cov.: 0 AF XY: 0.00311 AC XY: 7AN XY: 2248
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GnomAD4 genome AF: 0.00121 AC: 165AN: 136054Hom.: 0 Cov.: 0 AF XY: 0.000919 AC XY: 60AN XY: 65306
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Finnish type amyloidosis Uncertain:1
May 05, 2022
Department of Pathology and Laboratory Medicine, Sinai Health System
Significance: Uncertain significance
Review Status: criteria provided, single submitter
Collection Method: research
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Computational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at