chr10-95414595-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001034954.3(SORBS1):āc.709A>Gā(p.Thr237Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0683 in 1,605,834 control chromosomes in the GnomAD database, including 6,871 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T237M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001034954.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SORBS1 | NM_001034954.3 | c.709A>G | p.Thr237Ala | missense_variant | 9/33 | ENST00000371247.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SORBS1 | ENST00000371247.7 | c.709A>G | p.Thr237Ala | missense_variant | 9/33 | 5 | NM_001034954.3 | P3 |
Frequencies
GnomAD3 genomes AF: 0.123 AC: 18736AN: 151882Hom.: 2111 Cov.: 31
GnomAD3 exomes AF: 0.0822 AC: 20047AN: 243874Hom.: 1468 AF XY: 0.0817 AC XY: 10736AN XY: 131484
GnomAD4 exome AF: 0.0625 AC: 90870AN: 1453834Hom.: 4758 Cov.: 32 AF XY: 0.0643 AC XY: 46464AN XY: 722148
GnomAD4 genome AF: 0.123 AC: 18771AN: 152000Hom.: 2113 Cov.: 31 AF XY: 0.121 AC XY: 9001AN XY: 74310
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at