ENST00000703602.1:c.703-9986_703-9985insTT

Variant names:

• chr6-25708782-C-CTT
• rs11441045
• ENST00000703602.1:c.703-9986_703-9985insTT

Variant summary

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

The ENST00000703602.1(ENSG00000290217):​c.703-9986_703-9985insTT variant causes a intron 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 0.0014 (0 hom., cov: 0)
• Consequence: ENSG00000290217 ENST00000703602.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.377
• Publications: 5 publications found

Genes affected

ENSG00000290217 (HGNC:):

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000703602.1. 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
	ENSG00000290217	ENST00000703602.1		c.703-9986_703-9985insTT		intron	N/A	ENSP00000515390.1	A0A994J4C2

Frequencies

GnomAD3 genomes AF: 0.00141 AC: 208 AN: 147824 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00395

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00195

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000429

Gnomad FIN AF: 0.000638

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000179

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.00141 AC: 208 AN: 147898 Hom.: 0 Cov.: 0 AF XY: 0.00120 AC XY: 86 AN XY: 71858

African (AFR) AF: 0.00394 AC: 159 AN: 40386

American (AMR) AF: 0.00195 AC: 29 AN: 14880

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3422

East Asian (EAS) AF: 0.00 AC: 0 AN: 5056

South Asian (SAS) AF: 0.000430 AC: 2 AN: 4652

European-Finnish (FIN) AF: 0.000638 AC: 6 AN: 9398

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 290

European-Non Finnish (NFE) AF: 0.000180 AC: 12 AN: 66846

Other (OTH) AF: 0.00 AC: 0 AN: 2064

Alfa AF: 0.00 Hom.: 1612

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.38

Splicing

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

Other links and lift over

dbSNP: rs11441045; hg19: chr6-25709010;