rs35854821

Variant names:

• chr1-189502601-TAAAAAAAAAAA-T
• rs35854821
• XR_002958413.2:n.483-65719_483-65709delAAAAAAAAAAA

Your query was ambiguous. Multiple possible variants found:

• chr1-189502601-TAAAAAAAAAAA-T
• chr1-189502601-TAAAAAAAAAAA-TAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAA
• chr1-189502601-TAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Variant summary

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

The XR_002958413.2(LOC105371657):​n.483-65719_483-65709delAAAAAAAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: 31)
• Consequence: LOC105371657 XR_002958413.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.337
• Publications: 0 publications found

Genes affected

LOC105371657 (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
LOC105371657	XR_002958413.2	n.483-65719_483-65709delAAAAAAAAAAA		intron_variant	Intron 3 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes Cov.: 31

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

GnomAD4 genome Cov.: 31

Alfa AF: 0.00 Hom.: 1

Bravo AF: 0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs35854821; hg19: chr1-189471731;