rs288463

Positions:

• chr11-31042354-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001387274.1(DCDC1):​c.2591+22115A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.514 in 152,012 control chromosomes in the GnomAD database, including 20,767 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 0.51 (20767 hom., cov: 32)
• Consequence: DCDC1 NM_001387274.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00200

Genes affected

DCDC1 (HGNC:20625): (doublecortin domain containing 1) This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog. [provided by RefSeq, Sep 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.649 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DCDC1	NM_001387274.1	c.2591+22115A>C		intron_variant		ENST00000684477.1	NP_001374203.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DCDC1	ENST00000684477.1	c.2591+22115A>C		intron_variant			NM_001387274.1	ENSP00000507427	A2
DCDC1	ENST00000597505.5	c.2591+22115A>C		intron_variant		5		ENSP00000472625	A2
DCDC1	ENST00000342355.8	c.*1666+22115A>C		intron_variant, NMD_transcript_variant		2		ENSP00000343496
DCDC1	ENST00000437348.5	n.1299+22115A>C		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.514 AC: 78103 AN: 151894 Hom.: 20734 Cov.: 32

Gnomad AFR AF: 0.655

Gnomad AMI AF: 0.580

Gnomad AMR AF: 0.513

Gnomad ASJ AF: 0.543

Gnomad EAS AF: 0.331

Gnomad SAS AF: 0.455

Gnomad FIN AF: 0.472

Gnomad MID AF: 0.580

Gnomad NFE AF: 0.450

Gnomad OTH AF: 0.536

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

GnomAD4 genome AF: 0.514 AC: 78186 AN: 152012 Hom.: 20767 Cov.: 32 AF XY: 0.512 AC XY: 38048 AN XY: 74306

Gnomad4 AFR AF: 0.655

Gnomad4 AMR AF: 0.513

Gnomad4 ASJ AF: 0.543

Gnomad4 EAS AF: 0.332

Gnomad4 SAS AF: 0.455

Gnomad4 FIN AF: 0.472

Gnomad4 NFE AF: 0.450

Gnomad4 OTH AF: 0.529

Alfa AF: 0.473 Hom.: 31146

Bravo AF: 0.529

Asia WGS AF: 0.410 AC: 1425 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	4.1
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs288463; hg19: chr11-31063901;