chr6-116117886-A-G

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_152729.3(NT5DC1):ā€‹c.470A>Gā€‹(p.Asp157Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000491 in 1,426,206 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā˜…).

Frequency

Genomes: not found (cov: 33)
Exomes š‘“: 0.0000049 ( 0 hom. )

Consequence

NT5DC1
NM_152729.3 missense

Scores

2
8
9

Clinical Significance

Uncertain significance criteria provided, single submitter U:1

Conservation

PhyloP100: 5.30
Variant links:
Genes affected
NT5DC1 (HGNC:21556): (5'-nucleotidase domain containing 1) While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
NT5DC1NM_152729.3 linkuse as main transcriptc.470A>G p.Asp157Gly missense_variant 6/12 ENST00000319550.9
NT5DC1XM_006715378.4 linkuse as main transcriptc.470A>G p.Asp157Gly missense_variant 6/10

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
NT5DC1ENST00000319550.9 linkuse as main transcriptc.470A>G p.Asp157Gly missense_variant 6/121 NM_152729.3 P1Q5TFE4-1
NT5DC1ENST00000419791.3 linkuse as main transcriptc.470A>G p.Asp157Gly missense_variant 6/73
NT5DC1ENST00000417846.2 linkuse as main transcriptn.211A>G non_coding_transcript_exon_variant 3/33
NT5DC1ENST00000460749.1 linkuse as main transcript upstream_gene_variant 5

Frequencies

GnomAD3 genomes
Cov.:
33
GnomAD4 exome
AF:
0.00000491
AC:
7
AN:
1426206
Hom.:
0
Cov.:
25
AF XY:
0.00000844
AC XY:
6
AN XY:
711218
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000647
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
33

ClinVar

Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not specified Uncertain:1
Uncertain significance, criteria provided, single submitterclinical testingAmbry GeneticsNov 29, 2021The c.470A>G (p.D157G) alteration is located in exon 6 (coding exon 6) of the NT5DC1 gene. This alteration results from a A to G substitution at nucleotide position 470, causing the aspartic acid (D) at amino acid position 157 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.17
BayesDel_addAF
Uncertain
0.071
D
BayesDel_noAF
Benign
-0.14
CADD
Uncertain
24
DANN
Uncertain
1.0
DEOGEN2
Benign
0.076
T;T
Eigen
Uncertain
0.44
Eigen_PC
Uncertain
0.51
FATHMM_MKL
Pathogenic
0.99
D
LIST_S2
Benign
0.85
D;D
M_CAP
Benign
0.018
T
MetaRNN
Uncertain
0.72
D;D
MetaSVM
Benign
-0.55
T
MutationAssessor
Pathogenic
3.0
M;.
MutationTaster
Benign
1.0
D
PrimateAI
Uncertain
0.53
T
PROVEAN
Uncertain
-3.3
D;D
REVEL
Benign
0.22
Sift
Benign
0.035
D;D
Sift4G
Uncertain
0.029
D;D
Polyphen
0.98
D;.
Vest4
0.77
MutPred
0.79
Gain of methylation at K160 (P = 0.036);Gain of methylation at K160 (P = 0.036);
MVP
0.23
MPC
0.24
ClinPred
0.98
D
GERP RS
5.8
Varity_R
0.25
gMVP
0.78

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1304268799; hg19: chr6-116439049; API