2-45393100-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_018079.5(SRBD1):āc.2543A>Gā(p.Tyr848Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000707 in 1,612,674 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_018079.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRBD1 | NM_018079.5 | c.2543A>G | p.Tyr848Cys | missense_variant | 20/21 | ENST00000263736.5 | NP_060549.4 | |
SRBD1 | XM_011532946.3 | c.2495A>G | p.Tyr832Cys | missense_variant | 20/21 | XP_011531248.1 | ||
SRBD1 | XM_047444861.1 | c.1100A>G | p.Tyr367Cys | missense_variant | 12/13 | XP_047300817.1 | ||
SRBD1 | XM_047444862.1 | c.1100A>G | p.Tyr367Cys | missense_variant | 11/12 | XP_047300818.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRBD1 | ENST00000263736.5 | c.2543A>G | p.Tyr848Cys | missense_variant | 20/21 | 2 | NM_018079.5 | ENSP00000263736 | P1 | |
SRBD1 | ENST00000490133.5 | n.1440A>G | non_coding_transcript_exon_variant | 5/6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 249480Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134802
GnomAD4 exome AF: 0.0000726 AC: 106AN: 1460356Hom.: 0 Cov.: 30 AF XY: 0.0000619 AC XY: 45AN XY: 726434
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152318Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74486
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | 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