rs10413280
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003721.4(RFXANK):c.*12C>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,520 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003721.4 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RFXANK | NM_003721.4 | c.*12C>G | 3_prime_UTR_variant | Exon 10 of 10 | ENST00000303088.9 | NP_003712.1 | ||
NR2C2AP | NM_176880.6 | c.*194G>C | 3_prime_UTR_variant | Exon 5 of 5 | ENST00000331552.12 | NP_795361.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RFXANK | ENST00000303088.9 | c.*12C>G | 3_prime_UTR_variant | Exon 10 of 10 | 1 | NM_003721.4 | ENSP00000305071.2 | |||
NR2C2AP | ENST00000331552.12 | c.*194G>C | 3_prime_UTR_variant | Exon 5 of 5 | 1 | NM_176880.6 | ENSP00000332823.6 | |||
NR2C2AP | ENST00000420605.7 | c.415-168G>C | intron_variant | Intron 5 of 5 | 2 | ENSP00000402756.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461520Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727080 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at