chr17-1872510-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002945.5(RPA1):c.438T>G(p.Asn146Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002945.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPA1 | NM_002945.5 | c.438T>G | p.Asn146Lys | missense_variant | 6/17 | ENST00000254719.10 | NP_002936.1 | |
RPA1 | NM_001355120.2 | c.399T>G | p.Asn133Lys | missense_variant | 6/17 | NP_001342049.1 | ||
RPA1 | NM_001355121.2 | c.438T>G | p.Asn146Lys | missense_variant | 6/16 | NP_001342050.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPA1 | ENST00000254719.10 | c.438T>G | p.Asn146Lys | missense_variant | 6/17 | 1 | NM_002945.5 | ENSP00000254719 | P1 | |
RPA1 | ENST00000570451.5 | c.399T>G | p.Asn133Lys | missense_variant | 6/7 | 3 | ENSP00000459788 | |||
RPA1 | ENST00000573924.1 | n.162T>G | non_coding_transcript_exon_variant | 2/6 | 4 | |||||
RPA1 | ENST00000571058.5 | downstream_gene_variant | 4 | ENSP00000461733 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2023 | The c.438T>G (p.N146K) alteration is located in exon 6 (coding exon 6) of the RPA1 gene. This alteration results from a T to G substitution at nucleotide position 438, causing the asparagine (N) at amino acid position 146 to be replaced by a lysine (K). 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.