rs1044573

Variant names:

• chr20-25226018-A-C
• rs1044573
• NM_001247.5:c.*421A>C

Your query was ambiguous. Multiple possible variants found:

• chr20-25226018-A-C
• chr20-25226018-A-G
• chr20-25226018-A-T

Variant summary

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

The NM_001247.5(ENTPD6):​c.*421A>C variant causes a 3 prime UTR 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: 34)
• Consequence: ENTPD6 NM_001247.5 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.988
• Publications: 46 publications found

Genes affected

ENTPD6 (HGNC:3368): (ectonucleoside triphosphate diphosphohydrolase 6) ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

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=-0.92).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001247.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENTPD6	NM_001247.5	MANE Select	c.*421A>C		3_prime_UTR	Exon 15 of 15	NP_001238.3	O75354-1
	ENTPD6	NM_001322378.2		c.*421A>C		3_prime_UTR	Exon 15 of 15	NP_001309307.2	O75354-1
	ENTPD6	NM_001317941.3		c.*421A>C		3_prime_UTR	Exon 15 of 15	NP_001304870.2	O75354-3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENTPD6	ENST00000376652.9	TSL:1 MANE Select	c.*421A>C		3_prime_UTR	Exon 15 of 15	ENSP00000365840.4	O75354-1
	ENTPD6	ENST00000360031.6	TSL:1	c.*421A>C		3_prime_UTR	Exon 15 of 15	ENSP00000353131.2	O75354-3
	ENTPD6	ENST00000354989.10	TSL:1	c.*421A>C		3_prime_UTR	Exon 14 of 14	ENSP00000347084.6

Frequencies

GnomAD3 genomes Cov.: 34

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 34

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.3
DANN	Benign	0.49
PhyloP100		-0.99
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.0

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: rs1044573; hg19: chr20-25206654;