2-218228834-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_152862.3(ARPC2):c.206C>T(p.Ala69Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152862.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARPC2 | NM_152862.3 | c.206C>T | p.Ala69Val | missense_variant | Exon 4 of 11 | ENST00000315717.10 | NP_690601.1 | |
ARPC2 | NM_005731.3 | c.206C>T | p.Ala69Val | missense_variant | Exon 3 of 10 | NP_005722.1 | ||
ARPC2 | XM_017003113.2 | c.41C>T | p.Ala14Val | missense_variant | Exon 3 of 10 | XP_016858602.1 | ||
ARPC2 | XM_047442808.1 | c.-91C>T | 5_prime_UTR_variant | Exon 1 of 7 | XP_047298764.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1443848Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 719242
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.206C>T (p.A69V) alteration is located in exon 4 (coding exon 3) of the ARPC2 gene. This alteration results from a C to T substitution at nucleotide position 206, causing the alanine (A) at amino acid position 69 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