12-96001014-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000895.3(LTA4H):c.1811T>C(p.Val604Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000467 in 1,613,474 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. V604L) has been classified as Uncertain significance.
Frequency
Consequence
NM_000895.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LTA4H | NM_000895.3 | c.1811T>C | p.Val604Ala | missense_variant | 19/19 | ENST00000228740.7 | |
LOC102723340 | XR_945236.4 | n.740+754A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LTA4H | ENST00000228740.7 | c.1811T>C | p.Val604Ala | missense_variant | 19/19 | 1 | NM_000895.3 | P1 | |
ENST00000551849.2 | n.341+754A>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000322 AC: 49AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000258 AC: 65AN: 251478Hom.: 0 AF XY: 0.000265 AC XY: 36AN XY: 135910
GnomAD4 exome AF: 0.000482 AC: 704AN: 1461202Hom.: 0 Cov.: 30 AF XY: 0.000464 AC XY: 337AN XY: 726988
GnomAD4 genome ? AF: 0.000322 AC: 49AN: 152272Hom.: 0 Cov.: 32 AF XY: 0.000295 AC XY: 22AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 10, 2022 | The c.1811T>C (p.V604A) alteration is located in exon 19 (coding exon 19) of the LTA4H gene. This alteration results from a T to C substitution at nucleotide position 1811, causing the valine (V) at amino acid position 604 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