5-96626749-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_130776.1(LOC101929710):n.355-4218T>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 0.319 in 152,048 control chromosomes in the GnomAD database, including 7,994 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
NR_130776.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC101929710 | NR_130776.1 | n.355-4218T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000502645.2 | n.355-4218T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
CAST | ENST00000505143.5 | c.61-48790T>C | intron_variant | 3 | |||||
ENST00000513158.1 | n.542-4218T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.319 AC: 48520AN: 151930Hom.: 7982 Cov.: 32
GnomAD4 genome AF: 0.319 AC: 48576AN: 152048Hom.: 7994 Cov.: 32 AF XY: 0.324 AC XY: 24106AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at