X-47573982-TGCTGTAGGGGTC-A

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate

The NM_006950.3(SYN1):​c.1982+8_1982+20delGACCCCTACAGCAinsT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: not found (cov: 23)

Consequence

SYN1
NM_006950.3 splice_region, intron

Scores

Not classified

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: 1.57
Variant links:
Genes affected
SYN1 (HGNC:11494): (synapsin I) This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP6
Variant X-47573982-TGCTGTAGGGGTC-A is Benign according to our data. Variant chrX-47573982-TGCTGTAGGGGTC-A is described in ClinVar as [Likely_benign]. Clinvar id is 3010198.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SYN1NM_006950.3 linkc.1982+8_1982+20delGACCCCTACAGCAinsT splice_region_variant, intron_variant Intron 12 of 12 ENST00000295987.13 NP_008881.2 P17600-1
SYN1NM_133499.2 linkc.1982+8_1982+20delGACCCCTACAGCAinsT splice_region_variant, intron_variant Intron 12 of 12 NP_598006.1 P17600-2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SYN1ENST00000295987.13 linkc.1982+8_1982+20delGACCCCTACAGCAinsT splice_region_variant, intron_variant Intron 12 of 12 2 NM_006950.3 ENSP00000295987.7 P17600-1
SYN1ENST00000340666.5 linkc.1982+8_1982+20delGACCCCTACAGCAinsT splice_region_variant, intron_variant Intron 12 of 12 1 ENSP00000343206.4 P17600-2
SYN1ENST00000640721.1 linkc.70+694_70+706delGACCCCTACAGCAinsT intron_variant Intron 1 of 1 5 ENSP00000492857.1 A0A1W2PSE9

Frequencies

GnomAD3 genomes
Cov.:
23
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
Cov.:
23

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders Benign:1
Aug 09, 2022
Labcorp Genetics (formerly Invitae), Labcorp
Significance: Likely benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing

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Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chrX-47433381; API