rs1046926270
Your query was ambiguous. Multiple possible variants found:
- chr8-102124496-GCCC-G
- chr8-102124496-GCCC-GC
- chr8-102124496-GCCC-GCC
- chr8-102124496-GCCC-GCCCC
- chr8-102124496-GCCC-GCCCCC
- chr8-102124496-GCCC-GCCCCCCC
- chr8-102124496-GCCC-GCCCCCCCC
- chr8-102124496-GCCC-GCCCCCCCCCC
- chr8-102124496-GCCC-GCCCCCCCCCCC
- chr8-102124496-GCCC-GCCCCCCCCCCCC
- chr8-102124496-GCCC-GCCCCCCCCCCCCC
- chr8-102124496-GCCC-GCCCCCCCCCCCCCCCC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001040630.2(NCALD):c.-123+71_-123+73delGGG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000264 in 75,838 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000026 ( 0 hom., cov: 25)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
NCALD
NM_001040630.2 intron
NM_001040630.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.381
Genes affected
NCALD (HGNC:7655): (neurocalcin delta) This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NCALD | ENST00000395923.5 | c.-123+71_-123+73delGGG | intron_variant | Intron 1 of 5 | 5 | ENSP00000379256.1 | ||||
NCALD | ENST00000522206.5 | c.-241+128_-241+130delGGG | intron_variant | Intron 1 of 4 | 4 | ENSP00000429296.1 | ||||
NCALD | ENST00000522078.5 | c.-210+71_-210+73delGGG | intron_variant | Intron 1 of 4 | 4 | ENSP00000429162.1 |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 2AN: 75838Hom.: 0 Cov.: 25
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 188Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134
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GnomAD4 genome AF: 0.0000264 AC: 2AN: 75838Hom.: 0 Cov.: 25 AF XY: 0.0000547 AC XY: 2AN XY: 36574
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at