rs10610693

Variant names:

• chr10-29445302-C-G
• rs10610693
• ENST00000413405.7:n.211+29890C>G

Your query was ambiguous. Multiple possible variants found:

• chr10-29445302-C-G
• chr10-29445302-C-T

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_Strong BS2

The ENST00000413405.7(SVIL-AS1):​n.211+29890C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.011 (14 hom., cov: 13)
• Consequence: SVIL-AS1 ENST00000413405.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.99
• Publications: 1 publications found

Genes affected

SVIL-AS1 (HGNC:):

SVIL-AS1 (HGNC:51219): (SVIL antisense RNA 1)

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BS2: High Homozygotes in GnomAd4 at 14 gene

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000413405.7. 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
	SVIL-AS1	NR_110920.1		n.207-12972C>G		intron	N/A
	SVIL-AS1	NR_110921.1		n.206+29890C>G		intron	N/A
	SVIL-AS1	NR_110922.1		n.181+29890C>G		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SVIL-AS1	ENST00000413405.7	TSL:1	n.211+29890C>G		intron	N/A
	SVIL-AS1	ENST00000414457.7	TSL:1	n.212+29890C>G		intron	N/A
	SVIL-AS1	ENST00000423223.7	TSL:2	n.182+29890C>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0110 AC: 1054 AN: 96136 Hom.: 14 Cov.: 13

Gnomad AFR AF: 0.0121

Gnomad AMI AF: 0.0259

Gnomad AMR AF: 0.00911

Gnomad ASJ AF: 0.0514

Gnomad EAS AF: 0.00365

Gnomad SAS AF: 0.00878

Gnomad FIN AF: 0.00145

Gnomad MID AF: 0.0278

Gnomad NFE AF: 0.00983

Gnomad OTH AF: 0.0133

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

GnomAD4 genome AF: 0.0110 AC: 1056 AN: 96216 Hom.: 14 Cov.: 13 AF XY: 0.0109 AC XY: 490 AN XY: 44930

African (AFR) AF: 0.0122 AC: 313 AN: 25710

American (AMR) AF: 0.00910 AC: 74 AN: 8132

Ashkenazi Jewish (ASJ) AF: 0.0514 AC: 126 AN: 2452

East Asian (EAS) AF: 0.00365 AC: 12 AN: 3288

South Asian (SAS) AF: 0.00881 AC: 24 AN: 2724

European-Finnish (FIN) AF: 0.00145 AC: 7 AN: 4814

Middle Eastern (MID) AF: 0.0290 AC: 4 AN: 138

European-Non Finnish (NFE) AF: 0.00983 AC: 463 AN: 47092

Other (OTH) AF: 0.0132 AC: 16 AN: 1210

Alfa AF: 0.294 Hom.: 1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.4
DANN	Benign	0.47
PhyloP100		-2.0
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs10610693;

hg19: chr10-29734231;