rs7756992

Variant names:

• chr6-20679478-A-G
• rs7756992
• NM_017774.3:c.371+30101A>G

Your query was ambiguous. Multiple possible variants found:

• chr6-20679478-A-G
• chr6-20679478-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_017774.3(CDKAL1):​c.371+30101A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.371 in 152,020 control chromosomes in the GnomAD database, including 11,801 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).

• Frequency: Genomes: 𝑓 0.37 (11801 hom., cov: 32)
• Consequence: CDKAL1 NM_017774.3 intron
• Clinical Significance: Uncertain significance no assertion criteria provided U:1
• Conservation: PhyloP100: -1.87

Genes affected

CDKAL1 (HGNC:21050): (CDK5 regulatory subunit associated protein 1 like 1) The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.557 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CDKAL1	NM_017774.3	c.371+30101A>G		intron_variant	Intron 5 of 15	ENST00000274695.8	NP_060244.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CDKAL1	ENST00000274695.8	c.371+30101A>G		intron_variant	Intron 5 of 15	1	NM_017774.3	ENSP00000274695.4
CDKAL1	ENST00000378610.1	c.371+30101A>G		intron_variant	Intron 3 of 13	2		ENSP00000367873.1

Frequencies

GnomAD3 genomes AF: 0.371 AC: 56381 AN: 151902 Hom.: 11781 Cov.: 32

Gnomad AFR AF: 0.563

Gnomad AMI AF: 0.363

Gnomad AMR AF: 0.311

Gnomad ASJ AF: 0.316

Gnomad EAS AF: 0.475

Gnomad SAS AF: 0.273

Gnomad FIN AF: 0.350

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.274

Gnomad OTH AF: 0.346

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.371 AC: 56440 AN: 152020 Hom.: 11801 Cov.: 32 AF XY: 0.374 AC XY: 27767 AN XY: 74316

Gnomad4 AFR AF: 0.563 AC: 0.563254 AN: 0.563254

Gnomad4 AMR AF: 0.310 AC: 0.310462 AN: 0.310462

Gnomad4 ASJ AF: 0.316 AC: 0.316138 AN: 0.316138

Gnomad4 EAS AF: 0.474 AC: 0.474324 AN: 0.474324

Gnomad4 SAS AF: 0.273 AC: 0.273067 AN: 0.273067

Gnomad4 FIN AF: 0.350 AC: 0.350019 AN: 0.350019

Gnomad4 NFE AF: 0.274 AC: 0.274253 AN: 0.274253

Gnomad4 OTH AF: 0.346 AC: 0.3463 AN: 0.3463

Alfa AF: 0.304 Hom.: 35644

Bravo AF: 0.379

Asia WGS AF: 0.351 AC: 1216 AN: 3472

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: no assertion criteria provided

Submissions by phenotype

Type 2 diabetes mellitus Uncertain:1

Sep 01, 2014

OMIM

Significance: Uncertain significance

Review Status: no assertion criteria provided

Collection Method: literature only

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.48
DANN	Benign	0.47
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs7756992; hg19: chr6-20679709;