chr4-185622955-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001395207.1(SORBS2):āc.3062A>Gā(p.Asn1021Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000218 in 1,613,586 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001395207.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SORBS2 | NM_001395207.1 | c.3062A>G | p.Asn1021Ser | missense_variant | 19/27 | ENST00000695409.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SORBS2 | ENST00000695409.1 | c.3062A>G | p.Asn1021Ser | missense_variant | 19/27 | NM_001395207.1 |
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000917 AC: 23AN: 250950Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135602
GnomAD4 exome AF: 0.000221 AC: 323AN: 1461446Hom.: 1 Cov.: 32 AF XY: 0.000234 AC XY: 170AN XY: 726956
GnomAD4 genome AF: 0.000191 AC: 29AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74332
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 23, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at