17-64859787-G-A
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_199340.5(LRRC37A3):c.4359C>T(p.Asp1453Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,288 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_199340.5 synonymous
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LRRC37A3 | NM_199340.5 | c.4359C>T | p.Asp1453Asp | synonymous_variant | Exon 12 of 15 | ENST00000584306.6 | NP_955372.2 | |
LRRC37A3 | NM_001303255.3 | c.1713C>T | p.Asp571Asp | synonymous_variant | Exon 8 of 11 | NP_001290184.1 | ||
LOC105376844 | XR_934912.4 | n.177+9800G>A | intron_variant | Intron 1 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460288Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726440 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
Age Distribution
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at