rs1553673680

Variant names:

• chr3-65132271-AATATCTACTAGATACTTTCCAAAGGGTTAATCAGCTTTAACATGGGGTGATGCCACTGTGCTGGTCTAAAATGTGTGATTTGCAGATGGAGGTTGGTGGGATCAACCACAAAGTCTGTCATCAAATGAAACACAAATGTGTTCACCTCTGGTCACTGGTTCAGGTTCTGGGCAGTCTGTCCCTTTGGCTGGAGGTAGAAGAACACTTTGGTAACTGTTGTGAGTGTGGTGGTGCAAGCTGAATAAGTTGATGTCCCCTTGGACTTCTATTTGAGATTTCTCCTCTGGTATTTTTATGGTACAGGTTTTGGGCAGTTGAATGAGAGTATGTAGGGACTGATCTTAGAAAACCAATGTAAGTCCAGGCATAGTGGCTCACACTTGTAATTCCAGCAGTTTGGGAGGCTGAGGCGAGTGGATCACTCAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGACAGGCGCCTGTAGTCCCAGCTGCTTAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTCGGTGACAGAGCAACACTCCATCTCAAAAAAAAAAAAAAAGAAAAAAAAGAAAGAAAACCAACATAAATCAGACTGTTACCTTCTATCCCTTTTCCCTGTCTAATAGGAGGAGAATGCCCCCTCTTATAACCCATTTGCTATACCTCTGCCAGCAATCTTTCACACATGCAGCAGCTGAATTGTCACTTCTTCAAAGACAT-A
• rs1553673680

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The variant was absent in control chromosomes in GnomAD project. 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: 0.827

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

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

Normal pregnancy Other:1

-

Institute of Molecular and Cell Biology, University of Tartu

Significance: not provided

Review Status: no classification provided

Collection Method: case-control

- -

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: rs1553673680; hg19: chr3-65117946;