chr9-137605818-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152285.4(ARRDC1):c.101C>T(p.Ala34Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000892 in 1,121,394 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152285.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARRDC1 | NM_152285.4 | c.101C>T | p.Ala34Val | missense_variant | 1/8 | ENST00000371421.9 | |
ARRDC1 | NM_001317968.2 | c.101C>T | p.Ala34Val | missense_variant | 1/7 | ||
ARRDC1 | XM_005266119.2 | c.101C>T | p.Ala34Val | missense_variant | 1/7 | ||
ARRDC1 | XM_047424069.1 | c.101C>T | p.Ala34Val | missense_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARRDC1 | ENST00000371421.9 | c.101C>T | p.Ala34Val | missense_variant | 1/8 | 1 | NM_152285.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 8.92e-7 AC: 1AN: 1121394Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 540182
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 12, 2022 | The c.101C>T (p.A34V) alteration is located in exon 1 (coding exon 1) of the ARRDC1 gene. This alteration results from a C to T substitution at nucleotide position 101, causing the alanine (A) at amino acid position 34 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
Publications
No publications associated with this variant yet.