rs6132094

Variant names:

• chr20-18643193-T-A
• rs6132094
• NM_080820.6:c.477+14960T>A

Your query was ambiguous. Multiple possible variants found:

• chr20-18643193-T-A
• chr20-18643193-T-G

Variant summary

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

The NM_080820.6(DTD1):​c.477+14960T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: DTD1 NM_080820.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.799
• Publications: 3 publications found

Genes affected

DTD1 (HGNC:16219): (D-aminoacyl-tRNA deacylase 1) The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ENSG00000284776 (HGNC:):

DUXAP7 (HGNC:32186): (double homeobox A pseudogene 7) Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]

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=-0.99).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DTD1	NM_080820.6	c.477+14960T>A		intron_variant	Intron 4 of 5	ENST00000377452.4	NP_543010.3
DUXAP7		n.18643193T>A		intragenic_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DTD1	ENST00000377452.4	c.477+14960T>A		intron_variant	Intron 4 of 5	1	NM_080820.6	ENSP00000366672.4
ENSG00000284776	ENST00000618693.4	c.552+14960T>A		intron_variant	Intron 4 of 4	5		ENSP00000482916.1
DUXAP7	ENST00000431038.2	n.442A>T		non_coding_transcript_exon_variant	Exon 1 of 2	6
DTD1	ENST00000647441.1	n.*140+14960T>A		intron_variant	Intron 5 of 6			ENSP00000493969.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 88940 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 50208

African (AFR) AF: 0.00 AC: 0 AN: 2210

American (AMR) AF: 0.00 AC: 0 AN: 8680

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 2486

East Asian (EAS) AF: 0.00 AC: 0 AN: 2026

South Asian (SAS) AF: 0.00 AC: 0 AN: 17018

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 4372

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 354

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 47354

Other (OTH) AF: 0.00 AC: 0 AN: 4440

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 2586

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.79
DANN	Benign	0.21
PhyloP100		-0.80

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: rs6132094; hg19: chr20-18623837;