20-62308045-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_007002.4(ADRM1):c.881C>T(p.Pro294Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,611,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007002.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADRM1 | ENST00000253003.7 | c.881C>T | p.Pro294Leu | missense_variant | Exon 8 of 10 | 1 | NM_007002.4 | ENSP00000253003.2 | ||
ADRM1 | ENST00000491935.5 | c.881C>T | p.Pro294Leu | missense_variant | Exon 9 of 11 | 5 | ENSP00000478877.1 | |||
ADRM1 | ENST00000620230.4 | c.764C>T | p.Pro255Leu | missense_variant | Exon 7 of 9 | 5 | ENSP00000480756.1 | |||
LAMA5 | ENST00000492698.1 | n.804G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152240Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 247812Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134550
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1458876Hom.: 0 Cov.: 35 AF XY: 0.0000221 AC XY: 16AN XY: 725484
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152240Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.881C>T (p.P294L) alteration is located in exon 8 (coding exon 7) of the ADRM1 gene. This alteration results from a C to T substitution at nucleotide position 881, causing the proline (P) at amino acid position 294 to be replaced by a leucine (L). 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