2-45418377-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018079.5(SRBD1):c.2321G>A(p.Arg774Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,886 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_018079.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRBD1 | NM_018079.5 | c.2321G>A | p.Arg774Gln | missense_variant | 18/21 | ENST00000263736.5 | NP_060549.4 | |
SRBD1 | XM_011532946.3 | c.2273G>A | p.Arg758Gln | missense_variant | 18/21 | XP_011531248.1 | ||
SRBD1 | XM_047444861.1 | c.878G>A | p.Arg293Gln | missense_variant | 10/13 | XP_047300817.1 | ||
SRBD1 | XM_047444862.1 | c.878G>A | p.Arg293Gln | missense_variant | 9/12 | XP_047300818.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRBD1 | ENST00000263736.5 | c.2321G>A | p.Arg774Gln | missense_variant | 18/21 | 2 | NM_018079.5 | ENSP00000263736.4 | ||
SRBD1 | ENST00000490133.5 | n.1218G>A | non_coding_transcript_exon_variant | 3/6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460886Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726788
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 01, 2024 | The c.2321G>A (p.R774Q) alteration is located in exon 18 (coding exon 17) of the SRBD1 gene. This alteration results from a G to A substitution at nucleotide position 2321, causing the arginine (R) at amino acid position 774 to be replaced by a glutamine (Q). 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
Publications
No publications associated with this variant yet.