7-107975725-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BS1_Supporting
The NM_002291.3(LAMB1):c.1153C>G(p.Pro385Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000316 in 1,612,900 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P385L) has been classified as Uncertain significance.
Frequency
Consequence
NM_002291.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LAMB1 | NM_002291.3 | c.1153C>G | p.Pro385Ala | missense_variant | 10/34 | ENST00000222399.11 | |
LAMB1 | XM_047420359.1 | c.1153C>G | p.Pro385Ala | missense_variant | 10/28 | ||
LAMB1 | XM_047420360.1 | c.1153C>G | p.Pro385Ala | missense_variant | 10/25 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LAMB1 | ENST00000222399.11 | c.1153C>G | p.Pro385Ala | missense_variant | 10/34 | 1 | NM_002291.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000330 AC: 5AN: 151730Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000678 AC: 17AN: 250566Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135352
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1461052Hom.: 0 Cov.: 31 AF XY: 0.0000440 AC XY: 32AN XY: 726694
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 151848Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74196
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Feb 08, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at