1-67415338-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001018069.2(SERBP1):c.953C>T(p.Ala318Val) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000141 in 1,416,272 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001018069.2 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERBP1 | NM_001018069.2 | c.953C>T | p.Ala318Val | missense_variant, splice_region_variant | 7/8 | ENST00000361219.11 | |
SERBP1 | NM_001018067.2 | c.998C>T | p.Ala333Val | missense_variant, splice_region_variant | 7/8 | ||
SERBP1 | NM_001018068.2 | c.980C>T | p.Ala327Val | missense_variant, splice_region_variant | 7/8 | ||
SERBP1 | NM_015640.4 | c.935C>T | p.Ala312Val | missense_variant, splice_region_variant | 7/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERBP1 | ENST00000361219.11 | c.953C>T | p.Ala318Val | missense_variant, splice_region_variant | 7/8 | 1 | NM_001018069.2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000141 AC: 2AN: 1416272Hom.: 0 Cov.: 30 AF XY: 0.00000143 AC XY: 1AN XY: 700422
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | The c.998C>T (p.A333V) alteration is located in exon 7 (coding exon 7) of the SERBP1 gene. This alteration results from a C to T substitution at nucleotide position 998, causing the alanine (A) at amino acid position 333 to be replaced by a valine (V). 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.