8-103066434-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001695.5(ATP6V1C1):c.1040C>T(p.Ala347Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000456 in 1,599,558 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001695.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATP6V1C1 | NM_001695.5 | c.1040C>T | p.Ala347Val | missense_variant | Exon 12 of 13 | ENST00000518738.2 | NP_001686.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151998Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000944 AC: 22AN: 233118Hom.: 0 AF XY: 0.000111 AC XY: 14AN XY: 126082
GnomAD4 exome AF: 0.0000470 AC: 68AN: 1447560Hom.: 0 Cov.: 31 AF XY: 0.0000458 AC XY: 33AN XY: 719948
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151998Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74228
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1040C>T (p.A347V) alteration is located in exon 12 (coding exon 11) of the ATP6V1C1 gene. This alteration results from a C to T substitution at nucleotide position 1040, causing the alanine (A) at amino acid position 347 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