rs200207416

Variant names:

• chr6-85467120-G-A
• rs200207416
• NM_002526.4:c.400G>A

Your query was ambiguous. Multiple possible variants found:

• chr6-85467120-G-A
• chr6-85467120-G-C
• chr6-85467120-G-T

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_002526.4(NT5E):​c.400G>A​(p.Glu134Lys) variant causes a missense 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. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E134Q) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 32)
• Consequence: NT5E NM_002526.4 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.393

Genes affected

NT5E (HGNC:8021): (5'-nucleotidase ecto) The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.06791806).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NT5E	NM_002526.4	c.400G>A	p.Glu134Lys	missense_variant	Exon 2 of 9	ENST00000257770.8	NP_002517.1
NT5E	NM_001204813.2	c.400G>A	p.Glu134Lys	missense_variant	Exon 2 of 8		NP_001191742.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NT5E	ENST00000257770.8	c.400G>A	p.Glu134Lys	missense_variant	Exon 2 of 9	1	NM_002526.4	ENSP00000257770.3
NT5E	ENST00000369646.7	c.400G>A	p.Glu134Lys	missense_variant	Exon 2 of 3	1		ENSP00000358660.3
NT5E	ENST00000369651.7	c.400G>A	p.Glu134Lys	missense_variant	Exon 2 of 8	2		ENSP00000358665.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 32

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.092
BayesDel_addAF	Benign	-0.16	T
BayesDel_noAF	Benign	-0.46
CADD	Benign	6.7
DANN	Benign	0.45
DEOGEN2	Benign	0.31	.;.;T
Eigen	Benign	-1.1
Eigen_PC	Benign	-1.0
FATHMM_MKL	Benign	0.042	N
LIST_S2	Benign	0.77	T;T;T
M_CAP	Benign	0.019	T
MetaRNN	Benign	0.068	T;T;T
MetaSVM	Benign	-0.92	T
MutationAssessor	Benign	0.60	N;.;N
PrimateAI	Benign	0.29	T
PROVEAN	Benign	-0.47	N;N;N
REVEL	Benign	0.17
Sift	Benign	0.28	T;T;T
Sift4G	Benign	0.33	T;T;T
Polyphen		0.0020, 0.0010	.;B;B
Vest4		0.23
MutPred		0.40		Loss of helix (P = 0.079);Loss of helix (P = 0.079);Loss of helix (P = 0.079);
MVP		0.67
MPC		0.20
ClinPred		0.046	T
GERP RS		-1.3
Varity_R		0.17
gMVP		0.72

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: rs200207416; hg19: chr6-86176838; COSMIC: COSV57628519; COSMIC: COSV57628519;