rs11267092

Variant names:

• chr5-76715788-ACGGCCGCGGGAAG-A
• rs11267092
• ENST00000507514.1:n.39+376_39+388delCTTCCCGCGGCCG

Your query was ambiguous. Multiple possible variants found:

• chr5-76715788-ACGGCCGCGGGAAG-A
• chr5-76715788-ACGGCCGCGGGAAG-ACGGCCGCGGGAAGCGGCCGCGGGAAG
• chr5-76715788-ACGGCCGCGGGAAG-ACGGCCGCGGGAAGCGGCCGCGGGAAGCGGCCGCGGGAAG

Variant summary

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

The ENST00000507514.1(ENSG00000225407):​n.39+376_39+388delCTTCCCGCGGCCG variant causes a intron change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: ENSG00000225407 ENST00000507514.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.632
• Publications: 0 publications found

Genes affected

ENSG00000225407 (HGNC:):

ACMG classification

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000225407	ENST00000507514.1	n.39+376_39+388delCTTCCCGCGGCCG		intron_variant	Intron 1 of 3	3

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.63

Splicing

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

Other links and lift over

dbSNP: rs11267092; hg19: chr5-76011613;