rs34877486

Variant names:

• chr1-1585290-TTTTGTTTG-T
• rs34877486
• ENST00000763257.1:n.247-6814_247-6807delTTTGTTTG

Your query was ambiguous. Multiple possible variants found:

• chr1-1585290-TTTTGTTTG-T
• chr1-1585290-TTTTGTTTG-TTTTG
• chr1-1585290-TTTTGTTTG-TTTTGTTTGTTTG

Variant summary

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

The ENST00000763257.1(ENSG00000299413):​n.247-6814_247-6807delTTTGTTTG 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: not found (cov: 0)
• Consequence: ENSG00000299413 ENST00000763257.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.212
• Publications: 1 publications found

Genes affected

ENSG00000299413 (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
ENSG00000299413	ENST00000763257.1	n.247-6814_247-6807delTTTGTTTG		intron_variant	Intron 1 of 1

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

Alfa AF: 0.00 Hom.: 339

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs34877486; hg19: chr1-1520670;