1-67430098-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM1PM2BP4
The NM_001018069.2(SERBP1):c.203A>G(p.Lys68Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,612,918 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001018069.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERBP1 | NM_001018069.2 | c.203A>G | p.Lys68Arg | missense_variant | 1/8 | ENST00000361219.11 | |
SERBP1 | NM_001018067.2 | c.203A>G | p.Lys68Arg | missense_variant | 1/8 | ||
SERBP1 | NM_001018068.2 | c.203A>G | p.Lys68Arg | missense_variant | 1/8 | ||
SERBP1 | NM_015640.4 | c.203A>G | p.Lys68Arg | missense_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERBP1 | ENST00000361219.11 | c.203A>G | p.Lys68Arg | missense_variant | 1/8 | 1 | NM_001018069.2 | ||
SERBP1 | ENST00000370995.6 | c.203A>G | p.Lys68Arg | missense_variant | 1/8 | 1 | P3 | ||
SERBP1 | ENST00000370990.5 | c.203A>G | p.Lys68Arg | missense_variant | 1/8 | 1 | A1 | ||
SERBP1 | ENST00000370994.8 | c.203A>G | p.Lys68Arg | missense_variant | 1/8 | 1 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152244Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460556Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726502
GnomAD4 genome ? AF: 0.00000656 AC: 1AN: 152362Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2022 | The c.203A>G (p.K68R) alteration is located in exon 1 (coding exon 1) of the SERBP1 gene. This alteration results from a A to G substitution at nucleotide position 203, causing the lysine (K) at amino acid position 68 to be replaced by an arginine (R). 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
Publications
No publications associated with this variant yet.