ENST00000759543.1:n.436-24165_436-23350del

Variant names:

• chr3-65132271-AATATCTACTAGATACTTTCCAAAGGGTTAATCAGCTTTAACATGGGGTGATGCCACTGTGCTGGTCTAAAATGTGTGATTTGCAGATGGAGGTTGGTGGGATCAACCACAAAGTCTGTCATCAAATGAAACACAAATGTGTTCACCTCTGGTCACTGGTTCAGGTTCTGGGCAGTCTGTCCCTTTGGCTGGAGGTAGAAGAACACTTTGGTAACTGTTGTGAGTGTGGTGGTGCAAGCTGAATAAGTTGATGTCCCCTTGGACTTCTATTTGAGATTTCTCCTCTGGTATTTTTATGGTACAGGTTTTGGGCAGTTGAATGAGAGTATGTAGGGACTGATCTTAGAAAACCAATGTAAGTCCAGGCATAGTGGCTCACACTTGTAATTCCAGCAGTTTGGGAGGCTGAGGCGAGTGGATCACTCAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGACAGGCGCCTGTAGTCCCAGCTGCTTAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTCGGTGACAGAGCAACACTCCATCTCAAAAAAAAAAAAAAAGAAAAAAAAGAAAGAAAACCAACATAAATCAGACTGTTACCTTCTATCCCTTTTCCCTGTCTAATAGGAGGAGAATGCCCCCTCTTATAACCCATTTGCTATACCTCTGCCAGCAATCTTTCACACATGCAGCAGCTGAATTGTCACTTCTTCAAAGACAT-A
• rs1553673680
• ENST00000759543.1:n.436-24165_436-23350del

Variant summary

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

The ENST00000759543.1(ENSG00000298971):​n.436-24165_436-23350del 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. Variant has been reported in ClinVar as not provided (no stars).

• Frequency: Genomes: not found (cov: 31)
• Consequence: ENSG00000298971 ENST00000759543.1 intron
• Clinical Significance: not provided no classification provided O:1
• Conservation: PhyloP100: 0.827
• Publications: 0 publications found

Genes affected

ENSG00000298971 (HGNC:):

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000759543.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000298971	ENST00000759543.1		n.436-24165_436-23350del		intron	N/A
	ENSG00000298971	ENST00000759544.1		n.634-24165_634-23350del		intron	N/A

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

ClinVar submissions as Germline

Significance: not provided

Revision: no classification provided

Pathogenic	VUS	Benign	Condition
-	-	-	Normal pregnancy (1)

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.83

Splicing

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

Other links and lift over

dbSNP: rs1553673680; hg19: chr3-65117946;