chr22-41256749-T-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_002883.4(RANGAP1):āc.850A>Gā(p.Ile284Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000124 in 1,614,000 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. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002883.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RANGAP1 | NM_002883.4 | c.850A>G | p.Ile284Val | missense_variant | 8/16 | ENST00000356244.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RANGAP1 | ENST00000356244.8 | c.850A>G | p.Ile284Val | missense_variant | 8/16 | 1 | NM_002883.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000718 AC: 18AN: 250864Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135712
GnomAD4 exome AF: 0.000131 AC: 191AN: 1461792Hom.: 0 Cov.: 33 AF XY: 0.000116 AC XY: 84AN XY: 727200
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2022 | The c.850A>G (p.I284V) alteration is located in exon 8 (coding exon 7) of the RANGAP1 gene. This alteration results from a A to G substitution at nucleotide position 850, causing the isoleucine (I) at amino acid position 284 to be replaced by a valine (V). 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