rs56834014
Variant names:
Your query was ambiguous. Multiple possible variants found:
- chr9-121283301-CTTTTTTTTTTTTTT-C
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTT
- chr9-121283301-CTTTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTTTTTT
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001353074.2(GSN):c.-121-16_-121-3delTTTTTTTTTTTTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000022 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
GSN
NM_001353074.2 splice_region, intron
NM_001353074.2 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.476
Publications
1 publications found
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]
GSN-AS1 (HGNC:23372): (GSN antisense RNA 1)
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001353074.2. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| GSN | MANE Select | c.-10+1741_-10+1754delTTTTTTTTTTTTTT | intron | N/A | NP_937895.1 | P06396-2 | |||
| GSN | c.99+753_99+766delTTTTTTTTTTTTTT | intron | N/A | NP_001121135.2 | A0A0A0MT01 | ||||
| GSN | c.-48+1741_-48+1754delTTTTTTTTTTTTTT | intron | N/A | NP_001340005.1 | A0A8V8TND7 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| GSN | TSL:5 MANE Select | c.-10+1741_-10+1754delTTTTTTTTTTTTTT | intron | N/A | ENSP00000404226.2 | P06396-2 | |||
| GSN | c.-99_-86delTTTTTTTTTTTTTT | 5_prime_UTR | Exon 2 of 18 | ENSP00000642653.1 | |||||
| GSN | c.-10+1741_-10+1754delTTTTTTTTTTTTTT | intron | N/A | ENSP00000570634.1 |
Frequencies
GnomAD3 genomes 0.0000220 AC: 3AN: 136070Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
3
AN:
136070
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 4724Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 2252
GnomAD4 exome
Data not reliable, filtered out with message: AC0;AS_VQSR
AF:
AC:
0
AN:
4724
Hom.:
AF XY:
AC XY:
0
AN XY:
2252
African (AFR)
AC:
0
AN:
0
American (AMR)
AF:
AC:
0
AN:
2
Ashkenazi Jewish (ASJ)
AC:
0
AN:
0
East Asian (EAS)
AF:
AC:
0
AN:
6
South Asian (SAS)
AC:
0
AN:
0
European-Finnish (FIN)
AF:
AC:
0
AN:
4636
Middle Eastern (MID)
AC:
0
AN:
0
European-Non Finnish (NFE)
AF:
AC:
0
AN:
50
Other (OTH)
AF:
AC:
0
AN:
30
GnomAD4 genome 0.0000220 AC: 3AN: 136070Hom.: 0 Cov.: 0 AF XY: 0.0000153 AC XY: 1AN XY: 65286 show subpopulations
GnomAD4 genome
AF:
AC:
3
AN:
136070
Hom.:
Cov.:
0
AF XY:
AC XY:
1
AN XY:
65286
show subpopulations
African (AFR)
AF:
AC:
3
AN:
37280
American (AMR)
AF:
AC:
0
AN:
13624
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3302
East Asian (EAS)
AF:
AC:
0
AN:
4702
South Asian (SAS)
AF:
AC:
0
AN:
4164
European-Finnish (FIN)
AF:
AC:
0
AN:
7098
Middle Eastern (MID)
AF:
AC:
0
AN:
292
European-Non Finnish (NFE)
AF:
AC:
0
AN:
62928
Other (OTH)
AF:
AC:
0
AN:
1840
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.608
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
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0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Variant carriers
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10
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Age
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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