GeneBe

rs1046926270

Variant names:

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

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.381
Variant links:
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]

Genome browser will be placed here

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

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
NCALDNM_001040630.2 linkc.-123+71_-123+73delGGG intron_variant Intron 1 of 5 NP_001035720.1 P61601B2RB70
NCALDXM_047422315.1 linkc.-210+71_-210+73delGGG intron_variant Intron 1 of 6 XP_047278271.1
NCALDNM_001040624.2 linkc.-559_-557delGGG upstream_gene_variant NP_001035714.1 P61601B2RB70

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
NCALDENST00000395923.5 linkc.-123+71_-123+73delGGG intron_variant Intron 1 of 5 5 ENSP00000379256.1 P61601
NCALDENST00000522206.5 linkc.-241+128_-241+130delGGG intron_variant Intron 1 of 4 4 ENSP00000429296.1 E5RIX3
NCALDENST00000522078.5 linkc.-210+71_-210+73delGGG intron_variant Intron 1 of 4 4 ENSP00000429162.1 E5RJA1

Frequencies

GnomAD3 genomes
AF:
0.0000264
AC:
2
AN:
75838
Hom.:
0
Cov.:
25
show subpopulations
Gnomad AFR
AF:
0.0000845
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00
Gnomad OTH
AF:
0.00
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
188
Hom.:
0
AF XY:
0.00
AC XY:
0
AN XY:
134
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
AF:
0.0000264
AC:
2
AN:
75838
Hom.:
0
Cov.:
25
AF XY:
0.0000547
AC XY:
2
AN XY:
36574
show subpopulations
Gnomad4 AFR
AF:
0.0000845
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.00
Gnomad4 OTH
AF:
0.00
Bravo
AF:
0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1046926270; hg19: chr8-103136724; API