1-183024024-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_002293.4(LAMC1):c.308C>T(p.Ala103Val) variant causes a missense change. The variant allele was found at a frequency of 0.000165 in 1,612,964 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002293.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000566 AC: 14AN: 247284Hom.: 0 AF XY: 0.0000595 AC XY: 8AN XY: 134362
GnomAD4 exome AF: 0.000174 AC: 254AN: 1460732Hom.: 0 Cov.: 34 AF XY: 0.000154 AC XY: 112AN XY: 726666
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.308C>T (p.A103V) alteration is located in exon 1 (coding exon 1) of the LAMC1 gene. This alteration results from a C to T substitution at nucleotide position 308, causing the alanine (A) at amino acid position 103 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