chr10-95318371-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001034954.3(SORBS1):c.3760G>A(p.Asp1254Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000435 in 1,607,532 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. D1254G) 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.3760G>A | p.Asp1254Asn | missense_variant | 32/33 | ENST00000371247.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SORBS1 | ENST00000371247.7 | c.3760G>A | p.Asp1254Asn | missense_variant | 32/33 | 5 | NM_001034954.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 246686Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133284
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1455392Hom.: 0 Cov.: 28 AF XY: 0.00000414 AC XY: 3AN XY: 723832
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 04, 2022 | The c.3760G>A (p.D1254N) alteration is located in exon 30 (coding exon 30) of the SORBS1 gene. This alteration results from a G to A substitution at nucleotide position 3760, causing the aspartic acid (D) at amino acid position 1254 to be replaced by an asparagine (N). 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