chr3-123567768-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198402.5(HACD2):c.286G>T(p.Ala96Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000032 in 1,498,854 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198402.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151966Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000154 AC: 3AN: 194312Hom.: 0 AF XY: 0.0000280 AC XY: 3AN XY: 107326
GnomAD4 exome AF: 0.0000327 AC: 44AN: 1346888Hom.: 0 Cov.: 24 AF XY: 0.0000432 AC XY: 29AN XY: 671844
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151966Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74234
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.286G>T (p.A96S) alteration is located in exon 3 (coding exon 3) of the HACD2 gene. This alteration results from a G to T substitution at nucleotide position 286, causing the alanine (A) at amino acid position 96 to be replaced by a serine (S). 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