11-31092650-G-T

Position:

• chr11-31092650-G-T

Variant summary

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

The NM_001387274.1(DCDC1):​c.2119-1139C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.489 in 152,022 control chromosomes in the GnomAD database, including 18,402 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 0.49 (18402 hom., cov: 32)
• Consequence: DCDC1 NM_001387274.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.768

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]

DCDC1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.561 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DCDC1	NM_001387274.1	c.2119-1139C>A		intron_variant		ENST00000684477.1	NP_001374203.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DCDC1	ENST00000684477.1	c.2119-1139C>A		intron_variant			NM_001387274.1	ENSP00000507427.1
DCDC1	ENST00000597505.5	c.2119-1139C>A		intron_variant		5		ENSP00000472625.1
DCDC1	ENST00000342355.8	n.*1194-1139C>A		intron_variant		2		ENSP00000343496.4
DCDC1	ENST00000437348.5	n.827-1139C>A		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.488 AC: 74193 AN: 151902 Hom.: 18369 Cov.: 32

Gnomad AFR AF: 0.567

Gnomad AMI AF: 0.581

Gnomad AMR AF: 0.500

Gnomad ASJ AF: 0.543

Gnomad EAS AF: 0.331

Gnomad SAS AF: 0.451

Gnomad FIN AF: 0.472

Gnomad MID AF: 0.583

Gnomad NFE AF: 0.450

Gnomad OTH AF: 0.517

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

GnomAD4 genome AF: 0.489 AC: 74274 AN: 152022 Hom.: 18402 Cov.: 32 AF XY: 0.488 AC XY: 36214 AN XY: 74272

Gnomad4 AFR AF: 0.567

Gnomad4 AMR AF: 0.500

Gnomad4 ASJ AF: 0.543

Gnomad4 EAS AF: 0.332

Gnomad4 SAS AF: 0.451

Gnomad4 FIN AF: 0.472

Gnomad4 NFE AF: 0.450

Gnomad4 OTH AF: 0.510

Alfa AF: 0.299 Hom.: 664

Bravo AF: 0.498

Asia WGS AF: 0.403 AC: 1401 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.3
DANN	Benign	0.28

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs621549; hg19: chr11-31114197;