rs3821186

Variant names:

• chr2-172088439-C-A
• rs3821186
• NM_178120.5:c.*182C>A

Your query was ambiguous. Multiple possible variants found:

• chr2-172088439-C-A
• chr2-172088439-C-G
• chr2-172088439-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_178120.5(DLX1):​c.*182C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000164 in 609,988 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: not found (cov: 33)
  • Exomes 𝑓: 0.0000016 (0 hom.)
• Consequence: DLX1 NM_178120.5 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0640
• Publications: 0 publications found

Genes affected

DLX1 (HGNC:2914): (distal-less homeobox 1) This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

ENSG00000288958 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DLX1	NM_178120.5	c.*182C>A		3_prime_UTR_variant	Exon 3 of 3	ENST00000361725.5	NP_835221.2
DLX1	NM_001038493.2	c.*360C>A		3_prime_UTR_variant	Exon 2 of 2		NP_001033582.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DLX1	ENST00000361725.5	c.*182C>A		3_prime_UTR_variant	Exon 3 of 3	1	NM_178120.5	ENSP00000354478.4

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome AF: 0.00000164 AC: 1 AN: 609988 Hom.: 0 Cov.: 8 AF XY: 0.00000331 AC XY: 1 AN XY: 302302

⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.00 AC: 0 AN: 13412

American (AMR) AF: 0.00 AC: 0 AN: 8290

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 12316

East Asian (EAS) AF: 0.00 AC: 0 AN: 24474

South Asian (SAS) AF: 0.00 AC: 0 AN: 23140

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 24488

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 2074

European-Non Finnish (NFE) AF: 0.00000211 AC: 1 AN: 472936

Other (OTH) AF: 0.00 AC: 0 AN: 28858

⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0.000000), which strongly suggests a high chance of mosaicism in these individuals.

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	6.6
DANN	Benign	0.78
PhyloP100		0.064

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

Other links and lift over

dbSNP: rs3821186; hg19: chr2-172953167;