chr14-38014310-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_943760.4(LOC105370456):n.2814-7057C>A 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 0.0848 in 152,196 control chromosomes in the GnomAD database, including 1,309 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
Consequence
XR_943760.4 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105370456 | XR_943760.4 | n.2814-7057C>A | intron_variant, non_coding_transcript_variant | ||||
LOC105370456 | XR_943761.4 | n.3061-10942C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC6 | ENST00000533625.5 | c.*1934-26948G>T | intron_variant, NMD_transcript_variant | 2 | |||||
TTC6 | ENST00000553887.1 | n.121-26948G>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0846 AC: 12866AN: 152078Hom.: 1299 Cov.: 32
GnomAD4 genome AF: 0.0848 AC: 12902AN: 152196Hom.: 1309 Cov.: 32 AF XY: 0.0846 AC XY: 6297AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at