rs1051849

chr17-37513222-T-C

Variant summary

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

The NM_007026.4(DUSP14):c.*353T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.104 in 249,120 control chromosomes in the GnomAD database, including 1,604 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 0.10 (931 hom., cov: 31)
  • Exomes 𝑓: 0.11 (673 hom.)
• Consequence: DUSP14 NM_007026.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.880

Genes affected

DUSP14 (HGNC:17007): (dual specificity phosphatase 14) Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP14 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.233 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DUSP14	NM_007026.4	c.*353T>C		3_prime_UTR_variant	3/3	ENST00000617516.5
DUSP14	XM_005256977.4	c.*353T>C		3_prime_UTR_variant	3/3
DUSP14	XM_011524234.2	c.*353T>C		3_prime_UTR_variant	3/3
DUSP14	XM_047435217.1	c.*353T>C		3_prime_UTR_variant	3/3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DUSP14	ENST00000617516.5	c.*353T>C		3_prime_UTR_variant	3/3	1	NM_007026.4	P1
DUSP14	ENST00000613659.1	c.*353T>C		3_prime_UTR_variant	3/3	2		P1
DUSP14	ENST00000614411.1	c.*353T>C		3_prime_UTR_variant	2/2	2		P1

Frequencies

GnomAD3 genomes AF: 0.102 AC: 15559 AN: 152090 Hom.: 929 Cov.: 31

Gnomad AFR AF: 0.0573

Gnomad AMI AF: 0.0945

Gnomad AMR AF: 0.104

Gnomad ASJ AF: 0.0862

Gnomad EAS AF: 0.244

Gnomad SAS AF: 0.134

Gnomad FIN AF: 0.0904

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.119

Gnomad OTH AF: 0.117

GnomAD4 exome AF: 0.108 AC: 10433 AN: 96912 Hom.: 673 Cov.: 0 AF XY: 0.110 AC XY: 5340 AN XY: 48666

Gnomad4 AFR exome AF: 0.0557

Gnomad4 AMR exome AF: 0.0944

Gnomad4 ASJ exome AF: 0.0830

Gnomad4 EAS exome AF: 0.204

Gnomad4 SAS exome AF: 0.114

Gnomad4 FIN exome AF: 0.0900

Gnomad4 NFE exome AF: 0.108

Gnomad4 OTH exome AF: 0.109

GnomAD4 genome AF: 0.102 AC: 15559 AN: 152208 Hom.: 931 Cov.: 31 AF XY: 0.103 AC XY: 7638 AN XY: 74406

Gnomad4 AFR AF: 0.0571

Gnomad4 AMR AF: 0.104

Gnomad4 ASJ AF: 0.0862

Gnomad4 EAS AF: 0.244

Gnomad4 SAS AF: 0.134

Gnomad4 FIN AF: 0.0904

Gnomad4 NFE AF: 0.119

Gnomad4 OTH AF: 0.118

Alfa AF: 0.113 Hom.: 1126

Bravo AF: 0.104

Asia WGS AF: 0.170 AC: 588 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
Cadd	Benign	3.0
Dann	Benign	0.81

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: rs1051849; hg19: chr17-35873324;