8-144522244-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014665.4(LRRC14):c.*766T>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000537 in 372,518 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NM_014665.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LRRC14 | ENST00000292524.6 | c.*766T>G | 3_prime_UTR_variant | Exon 4 of 4 | 1 | NM_014665.4 | ENSP00000292524.1 | |||
LRRC24 | ENST00000529415.7 | c.*231A>C | downstream_gene_variant | 1 | NM_001024678.4 | ENSP00000434849.1 | ||||
LRRC14 | ENST00000529022.5 | c.*766T>G | downstream_gene_variant | 1 | ENSP00000434768.1 | |||||
LRRC24 | ENST00000533758.1 | c.*231A>C | downstream_gene_variant | 5 | ENSP00000435653.1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 0.00000537 AC: 2AN: 372518Hom.: 0 Cov.: 6 AF XY: 0.00000530 AC XY: 1AN XY: 188636
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.