10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTTT

Variant names:

• chr10-70170920-C-CTTTTTTT
• rs5785963
• ENST00000948610.1:c.-133_-132insAAAAAAA

Variant summary

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

The ENST00000948610.1(SAR1A):​c.-133_-132insAAAAAAA variant causes a upstream gene 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: 𝑓 0.00079 (0 hom., cov: 0)
• Consequence: SAR1A ENST00000948610.1 upstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.120
• Publications: 1 publications found

Genes affected

SAR1A (HGNC:10534): (secretion associated Ras related GTPase 1A) Predicted to enable GTPase activity. Involved in COPII-coated vesicle cargo loading. Part of COPII vesicle coat. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000948610.1. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SAR1A	ENST00000948610.1		c.-133_-132insAAAAAAA		upstream_gene	N/A	ENSP00000618669.1

Frequencies

GnomAD3 genomes AF: 0.000794 AC: 58 AN: 73070 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00218

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000546

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000602

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.0125

Gnomad NFE AF: 0.000400

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.000794 AC: 58 AN: 73070 Hom.: 0 Cov.: 0 AF XY: 0.000995 AC XY: 32 AN XY: 32164

African (AFR) AF: 0.00218 AC: 36 AN: 16520

American (AMR) AF: 0.000546 AC: 3 AN: 5494

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 2338

East Asian (EAS) AF: 0.00 AC: 0 AN: 2066

South Asian (SAS) AF: 0.000602 AC: 1 AN: 1662

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 928

Middle Eastern (MID) AF: 0.0125 AC: 1 AN: 80

European-Non Finnish (NFE) AF: 0.000400 AC: 17 AN: 42484

Other (OTH) AF: 0.00 AC: 0 AN: 916

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.12

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: rs5785963;

hg19: chr10-71930676;