chr10-122457305-GTGATAGGCATTAACTAAAATTAAATAAAAATTCAGATCATCCTTGCACTTGCTGCATTTCAAATGCTTGGCAGTCACATGTAGTTAGTGGCTACCCTCTTGGACAGCACAGATAGAGATTATTTCCATCACTGCAGAAAATTCTAGACTTTGAGCTTCTTGAGGACAGGGGCTTGATCATTCGACACTGCTTTACAGTGTCTAGCAGTGTCTACCCTGTGGCAGGGGCTCAGGAAATTTTTCCTGAACCGAACCTAACTGAACTGATGTGGGTTTGTCATCAGGGTGTACCTGCTGTTAAAGGAGGTTACGACCTCTGATGCTGGGGTGGCCAGAGGGGATGGGAGTGGGTCTGGCACTCTGAGGAAAGGGGGTGAAACCAGCTGAGAAGTCATCTTTTACCTGCTGGCATGGCCCCAGCCAGGGTTCTGTTGCTATGGGAGA-TTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The 10-122457305-GTGATAGGCATTAACTAAAATTAAATAAAAATTCAGATCATCCTTGCACTTGCTGCATTTCAAATGCTTGGCAGTCACATGTAGTTAGTGGCTACCCTCTTGGACAGCACAGATAGAGATTATTTCCATCACTGCAGAAAATTCTAGACTTTGAGCTTCTTGAGGACAGGGGCTTGATCATTCGACACTGCTTTACAGTGTCTAGCAGTGTCTACCCTGTGGCAGGGGCTCAGGAAATTTTTCCTGAACCGAACCTAACTGAACTGATGTGGGTTTGTCATCAGGGTGTACCTGCTGTTAAAGGAGGTTACGACCTCTGATGCTGGGGTGGCCAGAGGGGATGGGAGTGGGTCTGGCACTCTGAGGAAAGGGGGTGAAACCAGCTGAGAAGTCATCTTTTACCTGCTGGCATGGCCCCAGCCAGGGTTCTGTTGCTATGGGAGA-TTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as risk factor (no stars).
Frequency
Consequence
NM_001099667.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARMS2 | NM_001099667.3 | 3_prime_UTR_variant | 2/2 | ENST00000528446.1 | |||
LOC105378525 | XR_946382.3 | n.1874+747_1874+1190delinsAGTTTAGTTAATTAAATTAACTAAATAATTTAATTTTAGTTAATTAATTAATAA | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARMS2 | ENST00000528446.1 | 3_prime_UTR_variant | 2/2 | 1 | NM_001099667.3 | P1 | |||
ENST00000650300.1 | n.1852+747_1852+1190delinsAGTTTAGTTAATTAAATTAACTAAATAATTTAATTTTAGTTAATTAATTAATAA | intron_variant, non_coding_transcript_variant | |||||||
ENST00000647969.1 | n.182+747_182+1190delinsAGTTTAGTTAATTAAATTAACTAAATAATTTAATTTTAGTTAATTAATTAATAA | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? Cov.: 25
GnomAD4 genome ? Cov.: 25
ClinVar
Submissions by phenotype
Age related macular degeneration 8 Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Jul 01, 2008 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.