NM_018115.4:c.1492G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018115.4(SDAD1):c.1492G>A(p.Glu498Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,460,322 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018115.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
SDAD1 | ENST00000356260.10 | c.1492G>A | p.Glu498Lys | missense_variant | Exon 18 of 22 | 1 | NM_018115.4 | ENSP00000348596.5 | ||
SDAD1 | ENST00000395710.5 | n.*1348G>A | non_coding_transcript_exon_variant | Exon 18 of 22 | 1 | ENSP00000379060.1 | ||||
SDAD1 | ENST00000395710.5 | n.*1348G>A | 3_prime_UTR_variant | Exon 18 of 22 | 1 | ENSP00000379060.1 | ||||
SDAD1 | ENST00000395711.8 | c.1381G>A | p.Glu461Lys | missense_variant | Exon 17 of 21 | 2 | ENSP00000379061.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251418Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135882
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460322Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726466
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1492G>A (p.E498K) alteration is located in exon 18 (coding exon 18) of the SDAD1 gene. This alteration results from a G to A substitution at nucleotide position 1492, causing the glutamic acid (E) at amino acid position 498 to be replaced by a lysine (K). 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