chr1-92855312-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001006605.5(DIPK1A):​c.190-4357G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.231 in 151,820 control chromosomes in the GnomAD database, including 4,386 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.23 ( 4386 hom., cov: 31)

Consequence

DIPK1A
NM_001006605.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.14
Variant links:
Genes affected
DIPK1A (HGNC:32213): (divergent protein kinase domain 1A) This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.264 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
DIPK1ANM_001006605.5 linkc.190-4357G>A intron_variant Intron 2 of 4 ENST00000370310.5 NP_001006606.2 Q5T7M9-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
DIPK1AENST00000370310.5 linkc.190-4357G>A intron_variant Intron 2 of 4 2 NM_001006605.5 ENSP00000359333.4 Q5T7M9-1

Frequencies

GnomAD3 genomes
AF:
0.232
AC:
35119
AN:
151702
Hom.:
4382
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.197
Gnomad AMI
AF:
0.263
Gnomad AMR
AF:
0.243
Gnomad ASJ
AF:
0.208
Gnomad EAS
AF:
0.0148
Gnomad SAS
AF:
0.145
Gnomad FIN
AF:
0.268
Gnomad MID
AF:
0.268
Gnomad NFE
AF:
0.267
Gnomad OTH
AF:
0.250
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.231
AC:
35137
AN:
151820
Hom.:
4386
Cov.:
31
AF XY:
0.229
AC XY:
17015
AN XY:
74172
show subpopulations
Gnomad4 AFR
AF:
0.197
Gnomad4 AMR
AF:
0.244
Gnomad4 ASJ
AF:
0.208
Gnomad4 EAS
AF:
0.0151
Gnomad4 SAS
AF:
0.144
Gnomad4 FIN
AF:
0.268
Gnomad4 NFE
AF:
0.267
Gnomad4 OTH
AF:
0.246
Alfa
AF:
0.157
Hom.:
359
Bravo
AF:
0.226
Asia WGS
AF:
0.0980
AC:
345
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.93
CADD
Benign
0.22
DANN
Benign
0.58

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs7514280; hg19: chr1-93320869; API