6-25708782-CTT-CTTTT

Position:

• chr6-25708782-CTT-CTTTT

Variant summary

Our verdict is Uncertain significance. Variant got 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

Genes affected

ENSG00000290217 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.25708782_25708783insTT		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ENSG00000290217	ENST00000703602.1	c.703-9986_703-9985insTT		intron_variant				ENSP00000515390.1

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

Gnomad4 AFR AF: 0.00394

Gnomad4 AMR AF: 0.00195

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.000430

Gnomad4 FIN AF: 0.000638

Gnomad4 NFE AF: 0.000180

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11441045; hg19: chr6-25709010;