chr6-116117886-A-G
Position:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152729.3(NT5DC1):āc.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
NM_152729.3 missense
Scores
2
8
9
Clinical Significance
Conservation
PhyloP100: 5.30
Genes affected
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 |
---|---|---|---|---|---|---|---|
NT5DC1 | NM_152729.3 | c.470A>G | p.Asp157Gly | missense_variant | 6/12 | ENST00000319550.9 | |
NT5DC1 | XM_006715378.4 | c.470A>G | p.Asp157Gly | missense_variant | 6/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NT5DC1 | ENST00000319550.9 | c.470A>G | p.Asp157Gly | missense_variant | 6/12 | 1 | NM_152729.3 | P1 | |
NT5DC1 | ENST00000419791.3 | c.470A>G | p.Asp157Gly | missense_variant | 6/7 | 3 | |||
NT5DC1 | ENST00000417846.2 | n.211A>G | non_coding_transcript_exon_variant | 3/3 | 3 | ||||
NT5DC1 | ENST00000460749.1 | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 genomes
Cov.:
33
GnomAD4 exome AF: 0.00000491 AC: 7AN: 1426206Hom.: 0 Cov.: 25 AF XY: 0.00000844 AC XY: 6AN XY: 711218
GnomAD4 exome
AF:
AC:
7
AN:
1426206
Hom.:
Cov.:
25
AF XY:
AC XY:
6
AN XY:
711218
Gnomad4 AFR exome
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Gnomad4 ASJ exome
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Gnomad4 EAS exome
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GnomAD4 genome Cov.: 33
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 submitter | clinical testing | Ambry Genetics | Nov 29, 2021 | The 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:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Uncertain
D
BayesDel_noAF
Benign
CADD
Uncertain
DANN
Uncertain
DEOGEN2
Benign
T;T
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Pathogenic
D
LIST_S2
Benign
D;D
M_CAP
Benign
T
MetaRNN
Uncertain
D;D
MetaSVM
Benign
T
MutationAssessor
Pathogenic
M;.
MutationTaster
Benign
D
PrimateAI
Uncertain
T
PROVEAN
Uncertain
D;D
REVEL
Benign
Sift
Benign
D;D
Sift4G
Uncertain
D;D
Polyphen
D;.
Vest4
MutPred
Gain of methylation at K160 (P = 0.036);Gain of methylation at K160 (P = 0.036);
MVP
MPC
ClinPred
D
GERP RS
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at