7-102467750-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152892.3(LRWD1):c.605C>T(p.Ala202Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000429 in 1,399,542 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152892.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LRWD1 | NM_152892.3 | c.605C>T | p.Ala202Val | missense_variant | Exon 5 of 15 | ENST00000292616.10 | NP_690852.1 | |
LRWD1 | NM_001317721.2 | c.149C>T | p.Ala50Val | missense_variant | Exon 5 of 15 | NP_001304650.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000191 AC: 3AN: 156768Hom.: 0 AF XY: 0.0000242 AC XY: 2AN XY: 82566
GnomAD4 exome AF: 0.00000429 AC: 6AN: 1399542Hom.: 0 Cov.: 33 AF XY: 0.00000435 AC XY: 3AN XY: 690320
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.605C>T (p.A202V) alteration is located in exon 5 (coding exon 5) of the LRWD1 gene. This alteration results from a C to T substitution at nucleotide position 605, causing the alanine (A) at amino acid position 202 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