rs146361892
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_201550.4(LRRC10):āc.521T>Cā(p.Leu174Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000329 in 1,613,236 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L174V) has been classified as Uncertain significance.
Frequency
Consequence
NM_201550.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRRC10 | NM_201550.4 | c.521T>C | p.Leu174Pro | missense_variant | 1/1 | ENST00000361484.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRRC10 | ENST00000361484.5 | c.521T>C | p.Leu174Pro | missense_variant | 1/1 | NM_201550.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00178 AC: 271AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000490 AC: 123AN: 251030Hom.: 1 AF XY: 0.000464 AC XY: 63AN XY: 135702
GnomAD4 exome AF: 0.000177 AC: 259AN: 1460870Hom.: 1 Cov.: 31 AF XY: 0.000162 AC XY: 118AN XY: 726520
GnomAD4 genome AF: 0.00179 AC: 272AN: 152366Hom.: 0 Cov.: 33 AF XY: 0.00187 AC XY: 139AN XY: 74510
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Aug 25, 2023 | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015) - |
Dilated Cardiomyopathy, Dominant Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at