chr14-81823593-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000554814.1(ENSG00000259035):n.221-4214T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.221 in 152,014 control chromosomes in the GnomAD database, including 3,872 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC107984704 | XR_001750835.1 | n.626-4214T>C | intron_variant, non_coding_transcript_variant | ||||
LOC107984704 | XR_001750836.3 | n.747-4214T>C | intron_variant, non_coding_transcript_variant | ||||
LOC107984704 | XR_001750837.1 | n.626-4214T>C | intron_variant, non_coding_transcript_variant | ||||
LOC107984704 | XR_007064292.1 | n.747-4214T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000554814.1 | n.221-4214T>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.221 AC: 33507AN: 151896Hom.: 3867 Cov.: 31
GnomAD4 genome AF: 0.221 AC: 33537AN: 152014Hom.: 3872 Cov.: 31 AF XY: 0.226 AC XY: 16814AN XY: 74308
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at