10-95318371-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001034954.3(SORBS1):c.3760G>T(p.Asp1254Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000995 in 1,607,650 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D1254G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001034954.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SORBS1 | NM_001034954.3 | c.3760G>T | p.Asp1254Tyr | missense_variant | 32/33 | ENST00000371247.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SORBS1 | ENST00000371247.7 | c.3760G>T | p.Asp1254Tyr | missense_variant | 32/33 | 5 | NM_001034954.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000365 AC: 9AN: 246686Hom.: 0 AF XY: 0.0000525 AC XY: 7AN XY: 133284
GnomAD4 exome AF: 0.00000893 AC: 13AN: 1455392Hom.: 0 Cov.: 28 AF XY: 0.0000152 AC XY: 11AN XY: 723832
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74436
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 13, 2021 | The c.3760G>T (p.D1254Y) alteration is located in exon 30 (coding exon 30) of the SORBS1 gene. This alteration results from a G to T substitution at nucleotide position 3760, causing the aspartic acid (D) at amino acid position 1254 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