dbSNP rs8929: SYT13:c.*3477G>A (chr11-45240575-C-T) – ACMG Classification: Benign (-12 pts)

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_020826.3(SYT13):c.*3477G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.463 in 152,032 control chromosomes in the GnomAD database, including 16,789 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 0.46 ( 16787 hom., cov: 33)

Exomes 𝑓: 0.56 ( 2 hom. )

Consequence

SYT13
NM_020826.3 3_prime_UTR

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.420

Publications

10 publications found

Variant links:

Genes affected

SYT13 (HGNC:14962): (synaptotagmin 13) This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

SYT13 links:

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ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -12 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.82).

BA1

GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.526 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect	Exon rank	MANE	Protein	UniProt
SYT13	NM_020826.3 link	c.*3477G>A	3_prime_UTR_variant	Exon 6 of 6	ENST00000020926.8	NP_065877.1	Q7L8C5
SYT13	NM_001247987.2 link	c.*3477G>A	3_prime_UTR_variant	Exon 8 of 8		NP_001234916.1
SYT13	XM_047427338.1 link	c.*3477G>A	3_prime_UTR_variant	Exon 6 of 6		XP_047283294.1
SYT13	XM_047427339.1 link	c.*3477G>A	3_prime_UTR_variant	Exon 6 of 6		XP_047283295.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SYT13	ENST00000020926.8 link	c.*3477G>A		3_prime_UTR_variant	Exon 6 of 6	1	NM_020826.3	ENSP00000020926.3		Q7L8C5

Frequencies

GnomAD3 genomes

AF:

0.463

AC:

70316

AN:

151896

Hom.:

16783

Cov.:

show subpopulations

Gnomad AFR

AF:

0.384

Gnomad AMI

AF:

0.550

Gnomad AMR

AF:

0.393

Gnomad ASJ

AF:

0.528

Gnomad EAS

AF:

0.249

Gnomad SAS

AF:

0.469

Gnomad FIN

AF:

0.504

Gnomad MID

AF:

0.557

Gnomad NFE

AF:

0.530

Gnomad OTH

AF:

0.502

GnomAD4 exome

AF:

0.556

AC:

AN:

Hom.:

Cov.:

AF XY:

0.600

AC XY:

AN XY:

show subpopulations

African (AFR)

AC:

AN:

American (AMR)

AC:

AN:

Ashkenazi Jewish (ASJ)

AC:

AN:

East Asian (EAS)

AC:

AN:

South Asian (SAS)

AC:

AN:

European-Finnish (FIN)

AF:

0.625

AC:

AN:

Middle Eastern (MID)

AC:

AN:

European-Non Finnish (NFE)

AF:

0.00

AC:

AN:

Other (OTH)

AC:

AN:

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.442

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

GnomAD4 genome

AF:

0.463

AC:

70341

AN:

152014

Hom.:

16787

Cov.:

AF XY:

0.457

AC XY:

33958

AN XY:

74288

show subpopulations

African (AFR)

AF:

0.384

AC:

15906

AN:

41472

American (AMR)

AF:

0.392

AC:

5987

AN:

15270

Ashkenazi Jewish (ASJ)

AF:

0.528

AC:

1830

AN:

3468

East Asian (EAS)

AF:

0.249

AC:

1291

AN:

5176

South Asian (SAS)

AF:

0.469

AC:

2259

AN:

4820

European-Finnish (FIN)

AF:

0.504

AC:

5303

AN:

10526

Middle Eastern (MID)

AF:

0.541

AC:

159

AN:

294

European-Non Finnish (NFE)

AF:

0.530

AC:

36035

AN:

67966

Other (OTH)

AF:

0.507

AC:

1072

AN:

2114

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.504

Heterozygous variant carriers

1911

3821

5732

7642

9553

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

644

1288

1932

2576

3220

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.505

Hom.:

53922

Bravo

AF:

0.449

Asia WGS

AF:

0.407

AC:

1415

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.82

CADD

Benign

1.3

(source)

DANN

Benign

0.72

PhyloP100

-0.42

Mutation Taster

=100/0

polymorphism (auto)

(source)

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

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over