chr12-18088912-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001286201.2(RERGL):c.97G>T(p.Ala33Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000193 in 1,605,992 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001286201.2 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 |
---|---|---|---|---|---|---|---|---|
RERGL | NM_001286201.2 | c.97G>T | p.Ala33Ser | missense_variant | Exon 2 of 5 | ENST00000538724.6 | NP_001273130.1 | |
RERGL | NM_024730.4 | c.100G>T | p.Ala34Ser | missense_variant | Exon 3 of 6 | NP_079006.1 | ||
RERGL | NR_104413.1 | n.150G>T | non_coding_transcript_exon_variant | Exon 2 of 5 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152066Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250950Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135664
GnomAD4 exome AF: 0.0000165 AC: 24AN: 1453808Hom.: 0 Cov.: 28 AF XY: 0.0000193 AC XY: 14AN XY: 723776
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74410
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.100G>T (p.A34S) alteration is located in exon 3 (coding exon 2) of the RERGL gene. This alteration results from a G to T substitution at nucleotide position 100, causing the alanine (A) at amino acid position 34 to be replaced by a serine (S). 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