16-28985436-G-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001014987.2(LAT):c.19G>T(p.Val7Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000207 in 1,613,732 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001014987.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LAT | NM_001014987.2 | c.19G>T | p.Val7Phe | missense_variant | Exon 1 of 12 | ENST00000395456.7 | NP_001014987.1 | |
LAT | NM_001014989.2 | c.127G>T | p.Val43Phe | missense_variant | Exon 2 of 13 | NP_001014989.2 | ||
LAT | NM_014387.4 | c.19G>T | p.Val7Phe | missense_variant | Exon 1 of 11 | NP_055202.1 | ||
LAT | NM_001014988.2 | c.19G>T | p.Val7Phe | missense_variant | Exon 1 of 12 | NP_001014988.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000361 AC: 55AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000801 AC: 201AN: 250956Hom.: 2 AF XY: 0.000789 AC XY: 107AN XY: 135672
GnomAD4 exome AF: 0.000191 AC: 279AN: 1461468Hom.: 4 Cov.: 33 AF XY: 0.000187 AC XY: 136AN XY: 727056
GnomAD4 genome AF: 0.000361 AC: 55AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74438
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at