1-15660053-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006511.3(RSC1A1):āc.185T>Gā(p.Phe62Cys) 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. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F62L) has been classified as Likely benign.
Frequency
Consequence
NM_006511.3 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 | UniProt |
---|---|---|---|---|---|---|---|
RSC1A1 | NM_006511.3 | c.185T>G | p.Phe62Cys | missense_variant | 1/1 | ENST00000345034.2 | |
DDI2 | NM_032341.5 | c.*263T>G | 3_prime_UTR_variant | 10/10 | ENST00000480945.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RSC1A1 | ENST00000345034.2 | c.185T>G | p.Phe62Cys | missense_variant | 1/1 | NM_006511.3 | P1 | ||
DDI2 | ENST00000480945.6 | c.*263T>G | 3_prime_UTR_variant | 10/10 | 2 | NM_032341.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461424Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727012
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 13, 2021 | The c.185T>G (p.F62C) alteration is located in exon 1 (coding exon 1) of the RSC1A1 gene. This alteration results from a T to G substitution at nucleotide position 185, causing the phenylalanine (F) at amino acid position 62 to be replaced by a cysteine (C). 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