11-30930127-C-T

Position:

• chr11-30930127-C-T

Variant summary

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

The NM_001387274.1(DCDC1):​c.2897+1644G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.617 in 151,918 control chromosomes in the GnomAD database, including 29,754 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 0.62 (29754 hom., cov: 32)
• Consequence: DCDC1 NM_001387274.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.34

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=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.677 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DCDC1	NM_001387274.1	c.2897+1644G>A		intron_variant		ENST00000684477.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DCDC1	ENST00000684477.1	c.2897+1644G>A		intron_variant			NM_001387274.1	A2
DCDC1	ENST00000406071.6	c.218+1644G>A		intron_variant		5		A2
DCDC1	ENST00000597505.5	c.2897+1644G>A		intron_variant		5		A2
DCDC1	ENST00000483396.5	n.532+1644G>A		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.617 AC: 93728 AN: 151800 Hom.: 29731 Cov.: 32

Gnomad AFR AF: 0.499

Gnomad AMI AF: 0.803

Gnomad AMR AF: 0.668

Gnomad ASJ AF: 0.797

Gnomad EAS AF: 0.457

Gnomad SAS AF: 0.618

Gnomad FIN AF: 0.582

Gnomad MID AF: 0.758

Gnomad NFE AF: 0.682

Gnomad OTH AF: 0.663

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

GnomAD4 genome AF: 0.617 AC: 93796 AN: 151918 Hom.: 29754 Cov.: 32 AF XY: 0.614 AC XY: 45609 AN XY: 74252

Gnomad4 AFR AF: 0.499

Gnomad4 AMR AF: 0.667

Gnomad4 ASJ AF: 0.797

Gnomad4 EAS AF: 0.456

Gnomad4 SAS AF: 0.619

Gnomad4 FIN AF: 0.582

Gnomad4 NFE AF: 0.682

Gnomad4 OTH AF: 0.667

Alfa AF: 0.664 Hom.: 20331

Bravo AF: 0.618

Asia WGS AF: 0.582 AC: 2024 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.091
DANN	Benign	0.22

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs163879; hg19: chr11-30951674;