chr20-1310476-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080489.5(SDCBP2):c.844C>T(p.His282Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,422 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080489.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SDCBP2 | NM_080489.5 | c.844C>T | p.His282Tyr | missense_variant | 9/9 | ENST00000360779.4 | |
FKBP1A-SDCBP2 | NR_037661.1 | n.1122C>T | non_coding_transcript_exon_variant | 10/10 | |||
SDCBP2 | NM_001199784.2 | c.844C>T | p.His282Tyr | missense_variant | 9/9 | ||
SDCBP2 | NM_015685.6 | c.589C>T | p.His197Tyr | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SDCBP2 | ENST00000360779.4 | c.844C>T | p.His282Tyr | missense_variant | 9/9 | 1 | NM_080489.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461422Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727032
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 19, 2023 | The c.844C>T (p.H282Y) alteration is located in exon 9 (coding exon 8) of the SDCBP2 gene. This alteration results from a C to T substitution at nucleotide position 844, causing the histidine (H) at amino acid position 282 to be replaced by a tyrosine (Y). 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.