14-31302447-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015473.4(HEATR5A):c.5312C>T(p.Pro1771Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00001 in 1,597,992 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HEATR5A | NM_015473.4 | c.5312C>T | p.Pro1771Leu | missense_variant | 33/36 | ENST00000543095.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HEATR5A | ENST00000543095.7 | c.5312C>T | p.Pro1771Leu | missense_variant | 33/36 | 5 | NM_015473.4 | P1 | |
ENST00000551799.1 | n.683G>A | non_coding_transcript_exon_variant | 6/6 | 3 | |||||
HEATR5A | ENST00000538864.6 | c.4122+2458C>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 151982Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000134 AC: 3AN: 224462Hom.: 0 AF XY: 0.00000826 AC XY: 1AN XY: 121020
GnomAD4 exome AF: 0.00000899 AC: 13AN: 1446010Hom.: 0 Cov.: 30 AF XY: 0.00000975 AC XY: 7AN XY: 717626
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 151982Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74222
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2023 | The c.5312C>T (p.P1771L) alteration is located in exon 33 (coding exon 32) of the HEATR5A gene. This alteration results from a C to T substitution at nucleotide position 5312, causing the proline (P) at amino acid position 1771 to be replaced by a leucine (L). 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