17-39971570-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_178171.5(GSDMA):c.605T>C(p.Val202Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,666 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V202I) has been classified as Likely benign.
Frequency
Consequence
NM_178171.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GSDMA | NM_178171.5 | c.605T>C | p.Val202Ala | missense_variant | Exon 5 of 12 | ENST00000301659.9 | NP_835465.2 | |
GSDMA | XM_006721832.4 | c.605T>C | p.Val202Ala | missense_variant | Exon 5 of 12 | XP_006721895.1 | ||
GSDMA | XM_017024502.3 | c.605T>C | p.Val202Ala | missense_variant | Exon 5 of 11 | XP_016879991.1 | ||
GSDMA | XM_011524651.4 | c.179T>C | p.Val60Ala | missense_variant | Exon 3 of 10 | XP_011522953.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249218Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135190
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461666Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727118
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.605T>C (p.V202A) alteration is located in exon 5 (coding exon 4) of the GSDMA gene. This alteration results from a T to C substitution at nucleotide position 605, causing the valine (V) at amino acid position 202 to be replaced by an alanine (A). 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