rs1555628672

Variant names:

• chr18-30235354-GTTACTCAAGAGAATAATACTAATAGCCTGTCACAGACTGATCACAAGCCTTTTTAATAAAGCATATAAGACCATTATTCATAGTTCTGTTATCCTATATAAGCAAGCATTGTATTTGAAGTGGGCTCATTCTTCCTCTTGCTTCCTGAGGACTCCCTGTAATAGTGTACTACTCTGCAATAGAGGAGTCTTTAATAAACCTGCCTCTTTCACTGTGCTTTGTGACTTGTCCTGAATTATTTCCCTCATGATATCAAAGAACCCACCCTTAGGGTCTGGGATGAGACCACTTTCCGGTAAAGAAGTGTCTGAGACTAGGACACAGAAAAGAAATAGCCCAAAAACTCTTTCCTTCTACCCACATAGCTCCTGCTTGTGTCTCCCATTGGTTGAACCCAAGCAGAAACCAGGGGAAAGAGACCCCTAGGGATGCAGCCCCCAGGAGTTTAGCCTATAGGACATAGGGCAGAGCAAAAAAGAACAGAGGGAAGTAGTCCAATGCAGAATAACTAGCACTGTGGGAACTGACAACCAACTTATTTTGTAGAATCAGAAACACTTTCTACTGTCTTTTCTTTCCTGAAAGACACTCACAACTGCAAAGTGATTACAACTCTTTTCCCTAGAAAATCAGTTACAGGTAAAATCTA-G
• rs1555628672

Variant summary

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

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. Variant has been reported in ClinVar as not provided (no stars).

• Frequency: Genomes: not found (cov: 31)
• Consequence: Unknown
• Clinical Significance: not provided no classification provided O:1
• Conservation: PhyloP100: 0.630
• Publications: 0 publications found

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

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

ClinVar

Significance: not provided

Submissions summary: Other:1

Revision: no classification provided

Submissions by phenotype

Preeclampsia Other:1

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Institute of Molecular and Cell Biology, University of Tartu

Significance: not provided

Review Status: no classification provided

Collection Method: case-control

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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: rs1555628672; hg19: chr18-27815319;