16-81999991-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145168.3(SDR42E1):āc.302G>Cā(p.Arg101Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,614,110 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_145168.3 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 |
---|---|---|---|---|---|---|---|
SDR42E1 | NM_145168.3 | c.302G>C | p.Arg101Thr | missense_variant | 3/3 | ENST00000328945.7 | |
SDR42E1 | XM_005256257.5 | c.302G>C | p.Arg101Thr | missense_variant | 4/4 | ||
SDR42E1 | XM_011523471.4 | c.293G>C | p.Arg98Thr | missense_variant | 3/3 | ||
SDR42E1 | XM_047434925.1 | c.293G>C | p.Arg98Thr | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SDR42E1 | ENST00000328945.7 | c.302G>C | p.Arg101Thr | missense_variant | 3/3 | 1 | NM_145168.3 | P1 | |
SDR42E1 | ENST00000532128.5 | c.293G>C | p.Arg98Thr | missense_variant | 4/4 | 5 | |||
SDR42E1 | ENST00000534209.1 | n.635G>C | non_coding_transcript_exon_variant | 4/4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249536Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135380
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727244
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 17, 2023 | The c.302G>C (p.R101T) alteration is located in exon 3 (coding exon 2) of the SDR42E1 gene. This alteration results from a G to C substitution at nucleotide position 302, causing the arginine (R) at amino acid position 101 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