NM_138463.4:c.187C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138463.4(TLCD1):āc.187C>Gā(p.Leu63Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000452 in 1,612,974 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_138463.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000368 AC: 56AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000250 AC: 61AN: 243806Hom.: 0 AF XY: 0.000240 AC XY: 32AN XY: 133062
GnomAD4 exome AF: 0.000461 AC: 673AN: 1460752Hom.: 0 Cov.: 31 AF XY: 0.000446 AC XY: 324AN XY: 726664
GnomAD4 genome AF: 0.000368 AC: 56AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.187C>G (p.L63V) alteration is located in exon 1 (coding exon 1) of the TLCD1 gene. This alteration results from a C to G substitution at nucleotide position 187, causing the leucine (L) at amino acid position 63 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at