11-64270304-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000546139(GPR137):c.-355C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000444 in 1,576,282 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000546139 5_prime_UTR_premature_start_codon_gain
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 |
---|---|---|---|---|---|---|---|---|
BAD | NM_032989.3 | c.412G>A | p.Ala138Thr | missense_variant | Exon 4 of 4 | ENST00000309032.8 | NP_116784.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152272Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000211 AC: 3AN: 1424010Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 702620
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152272Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74398
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.412G>A (p.A138T) alteration is located in exon 3 (coding exon 3) of the BAD gene. This alteration results from a G to A substitution at nucleotide position 412, causing the alanine (A) at amino acid position 138 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