rs10514062

Positions:

• chr5-76182391-T-A
• chr5-76182391-T-C
• chr5-76182391-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_014979.4(SV2C):​c.581-12528T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.794 in 152,124 control chromosomes in the GnomAD database, including 48,534 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.79 (48534 hom., cov: 32)
• Consequence: SV2C NM_014979.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.10

Genes affected

SV2C (HGNC:30670): (synaptic vesicle glycoprotein 2C) Predicted to enable transmembrane transporter activity. Predicted to be involved in chemical synaptic transmission; neurotransmitter transport; and transmembrane transport. Predicted to be located in plasma membrane and synaptic vesicle. Predicted to be active in neuron projection and synaptic vesicle membrane. Predicted to be integral component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.897 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SV2C	NM_014979.4	c.581-12528T>A		intron_variant		ENST00000502798.7	NP_055794.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SV2C	ENST00000502798.7	c.581-12528T>A		intron_variant		1	NM_014979.4	ENSP00000423541	P1
SV2C	ENST00000322285.7	c.581-12528T>A		intron_variant		2		ENSP00000316983

Frequencies

GnomAD3 genomes AF: 0.794 AC: 120664 AN: 152006 Hom.: 48473 Cov.: 32

Gnomad AFR AF: 0.904

Gnomad AMI AF: 0.789

Gnomad AMR AF: 0.840

Gnomad ASJ AF: 0.822

Gnomad EAS AF: 0.914

Gnomad SAS AF: 0.705

Gnomad FIN AF: 0.674

Gnomad MID AF: 0.753

Gnomad NFE AF: 0.731

Gnomad OTH AF: 0.799

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.794 AC: 120784 AN: 152124 Hom.: 48534 Cov.: 32 AF XY: 0.792 AC XY: 58912 AN XY: 74342

Gnomad4 AFR AF: 0.904

Gnomad4 AMR AF: 0.840

Gnomad4 ASJ AF: 0.822

Gnomad4 EAS AF: 0.914

Gnomad4 SAS AF: 0.705

Gnomad4 FIN AF: 0.674

Gnomad4 NFE AF: 0.731

Gnomad4 OTH AF: 0.800

Alfa AF: 0.762 Hom.: 5177

Bravo AF: 0.815

Asia WGS AF: 0.822 AC: 2859 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.28
DANN	Benign	0.51

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs10514062; hg19: chr5-75478216;