NM_198252.3:c.-10+1747_-10+1754dupTTTTTTTT

Variant names:

• chr9-121283301-C-CTTTTTTTT
• rs56834014
• NM_198252.3:c.-10+1747_-10+1754dupTTTTTTTT

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_198252.3(GSN):​c.-10+1747_-10+1754dupTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: GSN NM_198252.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.469
• 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)

ENSG00000239593 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_198252.3. 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	NM_198252.3	MANE Select	c.-10+1747_-10+1754dupTTTTTTTT		intron	N/A	NP_937895.1	P06396-2
	GSN	NM_001127663.2		c.99+759_99+766dupTTTTTTTT		intron	N/A	NP_001121135.2	A0A0A0MT01
	GSN	NM_001353076.2		c.-48+1747_-48+1754dupTTTTTTTT		intron	N/A	NP_001340005.1	A0A8V8TND7

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GSN	ENST00000432226.7	TSL:5 MANE Select	c.-10+1747_-10+1754dupTTTTTTTT		intron	N/A	ENSP00000404226.2	P06396-2
	GSN	ENST00000972594.1		c.-93_-86dupTTTTTTTT		5_prime_UTR	Exon 2 of 18	ENSP00000642653.1
	GSN	ENST00000900575.1		c.-10+1747_-10+1754dupTTTTTTTT		intron	N/A	ENSP00000570634.1

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.47

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs56834014; hg19: chr9-124045579;