17-1844734-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002945.5(RPA1):c.272+48A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.893 in 1,403,766 control chromosomes in the GnomAD database, including 562,255 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002945.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPA1 | NM_002945.5 | c.272+48A>G | intron_variant | Intron 4 of 16 | ENST00000254719.10 | NP_002936.1 | ||
RPA1 | NM_001355120.2 | c.233+48A>G | intron_variant | Intron 4 of 16 | NP_001342049.1 | |||
RPA1 | NM_001355121.2 | c.272+48A>G | intron_variant | Intron 4 of 15 | NP_001342050.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPA1 | ENST00000254719.10 | c.272+48A>G | intron_variant | Intron 4 of 16 | 1 | NM_002945.5 | ENSP00000254719.4 | |||
RPA1 | ENST00000570451.5 | c.233+48A>G | intron_variant | Intron 4 of 6 | 3 | ENSP00000459788.1 | ||||
RPA1 | ENST00000571058.5 | c.233+48A>G | intron_variant | Intron 4 of 5 | 4 | ENSP00000461733.1 | ||||
RPA1 | ENST00000571725.1 | n.188+48A>G | intron_variant | Intron 2 of 3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.866 AC: 131610AN: 152016Hom.: 57292 Cov.: 31
GnomAD3 exomes AF: 0.859 AC: 179444AN: 208944Hom.: 77511 AF XY: 0.857 AC XY: 95891AN XY: 111830
GnomAD4 exome AF: 0.896 AC: 1121486AN: 1251632Hom.: 504920 Cov.: 15 AF XY: 0.891 AC XY: 555040AN XY: 622610
GnomAD4 genome AF: 0.866 AC: 131702AN: 152134Hom.: 57335 Cov.: 31 AF XY: 0.863 AC XY: 64217AN XY: 74394
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 95% of patients studied by a panel of primary immunodeficiencies. Number of patients: 90. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at