14-31293508-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015473.4(HEATR5A):c.5938G>A(p.Ala1980Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,546 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A1980P) has been classified as Uncertain significance.
Frequency
Consequence
NM_015473.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HEATR5A | ENST00000543095.7 | c.5938G>A | p.Ala1980Thr | missense_variant | Exon 36 of 36 | 5 | NM_015473.4 | ENSP00000437968.2 | ||
HEATR5A | ENST00000538864.6 | c.4594G>A | p.Ala1532Thr | missense_variant | Exon 28 of 28 | 5 | ENSP00000439979.2 | |||
HEATR5A | ENST00000551414.1 | n.2131G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
ENSG00000257831 | ENST00000551799.1 | n.401-1924C>T | intron_variant | Intron 4 of 5 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461546Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727060
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.