3-52204006-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000688.6(ALAS1):c.571C>A(p.Pro191Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000689 in 1,450,932 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000688.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALAS1 | ENST00000484952.6 | c.571C>A | p.Pro191Thr | missense_variant | Exon 5 of 12 | 1 | NM_000688.6 | ENSP00000418779.1 | ||
ALAS1 | ENST00000310271.6 | c.571C>A | p.Pro191Thr | missense_variant | Exon 4 of 11 | 1 | ENSP00000309259.2 | |||
ALAS1 | ENST00000469224.5 | c.571C>A | p.Pro191Thr | missense_variant | Exon 4 of 11 | 1 | ENSP00000417719.1 | |||
ALAS1 | ENST00000394965.6 | c.571C>A | p.Pro191Thr | missense_variant | Exon 5 of 12 | 2 | ENSP00000378416.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450932Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 721142
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.571C>A (p.P191T) alteration is located in exon 5 (coding exon 3) of the ALAS1 gene. This alteration results from a C to A substitution at nucleotide position 571, causing the proline (P) at amino acid position 191 to be replaced by a threonine (T). 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