6-160545521-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005577.4(LPA):āc.5317C>Gā(p.Pro1773Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000434 in 1,611,832 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005577.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151984Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459848Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 726388
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151984Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74230
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5317C>G (p.P1773A) alteration is located in exon 34 (coding exon 33) of the LPA gene. This alteration results from a C to G substitution at nucleotide position 5317, causing the proline (P) at amino acid position 1773 to be replaced by an alanine (A). 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