8-13499831-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_182643.3(DLC1):āc.241C>Gā(p.Leu81Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0265 in 1,614,030 control chromosomes in the GnomAD database, including 2,550 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_182643.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DLC1 | NM_182643.3 | c.241C>G | p.Leu81Val | missense_variant | 2/18 | ENST00000276297.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DLC1 | ENST00000276297.9 | c.241C>G | p.Leu81Val | missense_variant | 2/18 | 1 | NM_182643.3 |
Frequencies
GnomAD3 genomes AF: 0.0337 AC: 5123AN: 152144Hom.: 310 Cov.: 33
GnomAD3 exomes AF: 0.0617 AC: 15517AN: 251324Hom.: 1315 AF XY: 0.0569 AC XY: 7735AN XY: 135840
GnomAD4 exome AF: 0.0258 AC: 37663AN: 1461768Hom.: 2239 Cov.: 55 AF XY: 0.0266 AC XY: 19337AN XY: 727194
GnomAD4 genome AF: 0.0337 AC: 5126AN: 152262Hom.: 311 Cov.: 33 AF XY: 0.0373 AC XY: 2780AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at