10-95318370-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001034954.3(SORBS1):c.3761A>G(p.Asp1254Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000563 in 1,455,692 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. D1254N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001034954.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SORBS1 | NM_001034954.3 | c.3761A>G | p.Asp1254Gly | missense_variant | 32/33 | ENST00000371247.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SORBS1 | ENST00000371247.7 | c.3761A>G | p.Asp1254Gly | missense_variant | 32/33 | 5 | NM_001034954.3 | P3 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 246880Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133402
GnomAD4 exome AF: 0.0000563 AC: 82AN: 1455692Hom.: 0 Cov.: 28 AF XY: 0.0000497 AC XY: 36AN XY: 723976
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2022 | The c.3761A>G (p.D1254G) alteration is located in exon 30 (coding exon 30) of the SORBS1 gene. This alteration results from a A to G substitution at nucleotide position 3761, causing the aspartic acid (D) at amino acid position 1254 to be replaced by a glycine (G). 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